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Interviewer: Dystonia is a movement disorder. It causes muscles to contract involuntarily, and sometimes it can lead to repetitive or twisting movements in different parts of the body. The involuntary movements can really impact a person's daily life.

Neurologist and movement disorder specialist, Panagiotis Kassavetis, works with dystonia patients at University of Utah Health.

Dr. Kassavetis, it's my understanding that dystonia can sometimes be a difficult condition to diagnose. So when does a patient usually come to see you or somebody like you, a specialist, at a movement disorder clinic?

Dr. Kassavetis: Yeah, a lot of times patients would have an abnormal muscle contraction, abnormal movement, and they will refer to the movement disorders clinic. So when we see them, we have to think about dystonia and we have to think about how to diagnose dystonia.

Interviewer: So the referring physicians a lot of times know that there's some sort of movement disorder here. They might not be able to make that diagnosis, but they know that you would be able to do that.

Dr. Kassavetis: Yeah. So we take into account a lot of different elements, including the physical examination, the history of the patient, the family history. Sometimes we do some workup including brain imaging, laboratory tests in order to come up with a diagnosis.

Interviewer: So this isn't something that somebody could go on the internet and diagnose themselves very easily? Or could they get close? Have you had patients that did not receive a proper diagnosis, did some research, and said, "I think this is what I have"?

Dr. Kassavetis: This is very common in dystonia, a misdiagnosis of dystonia. The problem is that the definition of dystonia is abnormal, involuntary twisting movements, tremors that are repetitive. This can happen from many other different conditions. Strokes can have abnormal movements. Multiple sclerosis can cause abnormal movements, muscle conditions. Peripheral nerve conditions can cause abnormal movements. It's very common for the patients to misdiagnose themselves.

Also, on the internet, there is a lot of content that is not accurate. So a lot of patients, if you Google or if you go to YouTube and search for dystonia, you will see a lot of patients that are diagnosed with dystonia or present themselves as having dystonia, but they don't really have dystonia. And there are studies to prove that.

Interviewer: Wow. Okay. So it's a very difficult disease to diagnose. Really, it requires a professional, it requires imaging, it requires other tests as well. After a person has symptoms of dystonia, how long on average before they actually do receive that diagnosis?

Dr. Kassavetis: It can take years. Depending on the severity of the symptoms, it can take years. If it's a subtle symptom, the patients may bounce from one doctor to the other, and for many years they wouldn't have a diagnosis or treatment. If the symptoms are very severe, usually there is more pressure to reach movement disorders clinic and they get the diagnosis.

Interviewer: So it's difficult to diagnose. Is one of the reasons because it has many symptoms and presentations? Tell me more about that.

Dr. Kassavetis: Dystonia is very heterogeneous, so it can be very difficult to have a specific pattern that as a physician, when you see it, you're sure that this is dystonia. You have to know a lot of details about dystonia.

For example, dystonia can affect pretty much anybody. It can affect young children or it can affect older adults. It can be generalized when the abnormal muscle spasms happen throughout the body, or it can be focal with a very task-specific presentation where the pinky finger, for example, may contract when the patient writes. So it can be very heterogeneous, and for that reason, it's very difficult to diagnose.

Interviewer: How do patients describe their symptoms when they have dystonia? It's probably very difficult because you've already explained that it can be a lot of different symptoms seemingly. So how do they describe? What are some of the words they use when you talk to them?

Dr. Kassavetis: The way the patients describe the symptoms are actually very important for the diagnosis of dystonia. So the words that they use are muscle spasm or a pulling or muscle contraction, muscle spasm, cramp.

Usually, the dystonias are not painful. So the first, the chief complaint is usually the abnormal movement. It's not pain. When you hear a patient presenting with mostly complaining of pain and secondarily they say that there may be some abnormal movement, then this is a red flag for dystonia. Some dystonias are painful indeed, but usually the abnormal movement is more of a complaint than any other symptom, including pain.

Interviewer: And then as you're observing somebody, if the symptoms manifest while you're doing the consulting, what does that look like? Is it something the average person would notice?

Dr. Kassavetis: Sometimes it's very subtle and it's very difficult to notice. The neurological exam for dystonia has to be tailored to the specific dystonia. So sometimes we have to walk outside of the clinic to be able to see the dystonia.

For example, if somebody has stairs dystonia where the dystonia happens when they go up the stairs, we have to walk outside the clinic, find the stairs, ask the patient to go up and down in order to see the dystonia. So we have to trigger the dystonia. We have to find ways to be able to see the symptoms in the dystonia.

We have sometimes to bring tools. Patients that have a particular dystonia that's called musician's dystonia, the dystonia happens only when they play their musical instrument. We ask them to bring their guitar or their instrument to play it in the clinic so we can see the abnormal movement.

Interviewer: So how can dystonia interfere with a patient's daily life?

Dr. Kassavetis: Usually the abnormal movement is what interferes with activities of daily living. So if somebody has an abnormal movement when they write, they're not able to write. Or when they have an abnormal movement when they play their musical instrument, this can be very challenging for some people, especially for musicians.

Now, this is all about focal dystonia. There are other dystonias that can be generalized. For example, some genetic force of dystonia that affects young children can be very severe. These patients sometimes have difficulty walking. They have to be in a wheelchair. They have sometimes difficulties eating. They need support to communicate. So because dystonia is very heterogeneous, it can affect many aspects of life and with different severities.

Interviewer: Let's talk about treatment for a moment. So does treatment cure the disease or does it just help the patient manage the symptoms?

Dr. Kassavetis: So treatment will depend on the etiology of dystonia. Dystonia is very heterogeneous in the way it presents, but also the etiology, the reason why patients get dystonia is very heterogeneous. It varies a lot. So if dystonia, for example, is a side effect of a medication, by withdrawing this medication, the dystonia improves.

But most of the time, there is no cure for dystonia. So most of the time, we use medications or surgeries to manage the symptoms.

Interviewer: So tell me about the treatment options for dystonia. Is there some sort of an order that you generally go in, or does it really vary depending on the type of dystonia the patient has?

Dr. Kassavetis: Yes, it varies depending on the dystonia that the patient has. But a general rule of thumb is that the first-line treatment for dystonia management is botulinum toxin injections. This is a toxin that we inject in the muscles to make the muscles weak and prevent them from having the abnormal spasms that they have.

Interviewer: Same thing as Botox. Is that Botox you're talking about?

Dr. Kassavetis: Botox is a specific brand of botulinum toxin.

Interviewer: Oh, okay.

Dr. Kassavetis: There are different brands of botulinum toxin that we use.

Interviewer: Got it. Okay. So that's generally the first treatment. How effective generally is that?

Dr. Kassavetis: When there is a specific focal problem, botulinum toxin injections can be very successful. The problem with those injections is that the effect does not last for very long. It lasts for about three months. So the patients have to come back every three months to the clinic to get injections.

Interviewer: And there is no point where those injections would stop, that the condition would eventually get better through those injections?

Dr. Kassavetis: That's correct. Sometimes the symptoms fluctuate over time, sometimes they get a little better, sometimes they get a little worse. But most of the time, the dystonia continues. Now, again, with the caveat that it depends on the etiology of the dystonia.

Interviewer: Yeah, the type of dystonia it is, how it's presenting, that sort of thing. So do most of your patients go for the Botox and just accept the fact that it's going to be every three months I need to come back and do that? Or do they usually ask for other options that might be more permanent at that point?

Dr. Kassavetis: For patients that have focal dystonia, and most adult dystonias are focal dystonias, they do continue with botulinum toxin injections for many years. In fact, they can go on for decades with botulinum toxin injections every three months.

Interviewer: No real side effects for that treatment?

Dr. Kassavetis: All treatments have side effects.

Interviewer: Sure. How significant are they?

Dr. Kassavetis: Botulinum toxin can cause atrophy of the muscles that we inject chronically. So it can make the muscles weak. And sometimes if the toxin spreads in muscles that don't have the dystonia, then these muscles get weak and we can affect normal functions.

For example, if we inject the patient in the neck area, where if they have a type of dystonia that's called cervical dystonia, and that's actually the most common type of focal dystonia in adults, then we can affect muscles that do the swallowing function and patients can get swallowing difficulties.

So there are always risks and side effects that we have to consider and we discuss with the patient before every treatment. And for that reason, I think it's important for patients to get treatment in clinics that have expertise in injecting patients with dystonia.

Interviewer: What's the next line of treatment for dystonia? What are other tools that you have?

Dr. Kassavetis: We have several medications that sometimes we try for dystonia. Unfortunately, these medications are not very successful, and a lot of times as we increase the dose of those medications, we get side effects before we even get any meaningful benefit. And if that happens, then we stop the medications.

But it's reasonable, a lot of times, to try some of those medications because sometimes they can provide meaningful benefit in addition to the botulinum toxin injections.

Interviewer: And then surgery is also an option. How many patients need that option and who is that for?

Dr. Kassavetis: Usually we'll consider surgery only for the refractory cases where the patients don't get meaningful benefit from botulinum toxin injections or from medications. It's a type of treatment that, I would say, we consider only in very severe cases.

Interviewer: Severe meaning it really impacts quality of life?

Dr. Kassavetis: Yes. Usually, when the abnormal movements cause secondary problems, musculoskeletal problems, or the quality of life is very poor, then brain surgeries are considered. And they can be quite successful in these cases.

Interviewer: And what about physical therapy? Is that something that can be used for somebody who has dystonia?

Dr. Kassavetis: Physical therapy is always good. I frequently recommend physical therapy for my patients. Unfortunately, for dystonia, it's not very successful, but some patients do find some benefit. And it's a low-risk intervention, so usually it's a good thing to try.

Interviewer: Back to the "it's a complicated and misunderstood condition," it sounds like it's kind of a little hit-and-miss. You kind of have to try some things out to see what works for each individual as far as treatments to get them to the place they want to be.

Dr. Kassavetis: Yes, I agree with that. I think that the treatment has to be tailored to the specific patient. We consider the etiology of the dystonia and how the symptoms present to decide which one we'll try first and which one would go second and third and so on.

Interviewer: What is it like caring for patients with dystonia?

Dr. Kassavetis: I like the patient population that has dystonia. There is a lot of reward when we are able to help the patients to improve their symptoms, and sometimes we are able to do that and that is great when it happens.

We do have cases where the patients come in, they get the diagnosis first, and then we do the treatment. And after we do the injections, the patients don't get benefit immediately, so we don't know what's going to happen. We have to wait.

We book an appointment in three months, and this is when the patient comes back and it's always a happy moment when I ask the patient, "How did that go?" And they say, "The symptoms improved significantly, so I was able to perform the task that was affected." For example, typing or writing or playing my musical instrument.

And this is fantastic because then we can repeat the injections. We have a treatment, we know that this is going to last, and we can improve significantly the patients' lives.

Interviewer: And in that case, three months later, if the patient came in and said, "Eh, it's not really helping," what do you do at that point?

Dr. Kassavetis: That is expected. Not every time the injections work the same way. So sometimes we have great benefit, meaning that 80% or 90% of improvement. But sometimes the patient may come back and say, "This time it worked 50% or 40%," and this is expected.

Then that would mean two things. Either the last time we did the injections, we gave a smaller dose or the targeting was not correct or it is not so accurate, or the dystonia has progressed. Now, the dystonia has different features. So the way to address that is to adjust the pattern of injections or maybe the dose of injections.

And usually, when the patients had some response in the past, we do expect that we'll get it back.

Interviewer: And what is the average amount of time for somebody to get to a point where they are happy with the amount of symptom reduction that they have?

Dr. Kassavetis: So usually when I inject for the first time a patient, I'm very conservative. To avoid side effects, we try to decide on a lower dose. And it's possible that the first time, the pattern of injections, the dose of injections is not optimal. So usually I say to the patients, "We need to try two or three times to optimize the pattern of injections." And two or three times, this means about six or nine months. So it can take half a year or a year until we optimize the botulinum toxin pattern.

I think what's really important is patients that have dystonia or they have suspected dystonia to at least be seen in the beginning or when they have symptoms in a movement disorders clinic. Sometimes we are able to see the patients, make diagnosis, make a treatment plan, and then they're able to return back to their local neurologist and continue the treatment. But I think that if somebody has abnormal movements, muscle spasms, a referral to a movement disorders clinic is very important.

This content was originally created for audio. Some elements such as tone, sound effects, and music can be hard to translate to text. As such, the following is a summary of the episode and has been edited for clarity. For the full experience, we encourage you to subscribe and listen.

Interviewer: According to the Centers for Disease Control and Prevention, more than two million Americans experience a brain injury each year. While some of these injuries result in relatively short-term impact on a day-to-day function, others can lead to long-term challenges or even a permanent disability.

Today, we'll be speaking with Zoe, a young woman who experienced a traumatic brain injury after an accident and the long journey of her recovery and the daily experience of overcoming the long-term challenges of life after an accident like this.

And to help us better understand the medical side of a traumatic brain injury, joining us is associate professor of neurosurgery at University of Utah Health, Dr. Ramesh Grandhi, the doctor who helped stabilize Zoe after her accident.

Zoe, why don't we start with what kind of led to your traumatic brain injury in the first place? What exactly happened?

Zoe: Yeah. Well, interesting story. I had just moved to Salt Lake City in August of 2020, and this occurred . . . or rather, my accident occurred December 5, 2020. So I had just shy of five months in the state, really.

So I hadn't experienced a lot, but a friend and I really wanted to ski together. I bought a season pass at Alta, was really excited to get up there. And it was day one, in fact, of the ski season that this happened. So really did not get any other skiing in, obviously, but this was day one.

Yeah, I mean, I don't remember a whole lot about the day itself. I have spotty memories of the drive up to Alta, getting to Alta. I actually have some spotty memories of being on the lift up to the first run. After that, I don't remember anything. I remember a bit of skiing, and that's really about it in terms of the day.

And then subsequently, upon waking up, I have absolutely no memory of the remainder of December. My memory is really spotty from about Thanksgiving up to December 5th. So Thanksgiving, I would say, is the last clear memory that I have and everything else is kind of spotty. It appears in my head almost as if I made it all up.

I've had to ask a lot of people, especially family members, "Did this really happen? Can you describe this thing to me or remind me who was at Thanksgiving again?" I never would have guessed something like this when I first started skiing with my dad 10-plus years ago.

And I was maybe 500 yards behind several of my friends, so I was alone during the actual collision. I ran into this group of trees that sat right in the middle of the run that I was on at Alta.

In this tree well, it was icy. I slipped on the snow evidently and collided with some trees in the tree well. What I would assume happened at that point is I was knocked unconscious by the collision and then fell and was hidden by this tree well and this group of trees. And then because I wasn't found until about four hours later, I had become buried or covered by snow by people skiing by, obviously.

Interviewer: Sure. So you're spotty memory-wise from Thanksgiving to . . . When did you start to remember things again?

Zoe: Right. So really, my lucidity, I would say, started to come back right around January 6th, 7th, 8th, right in that area. This is purely what I was told, is that I woke up somewhere mid to end of December. The rest of December went by. I was then transferred to a long-term care facility outside of Salt Lake City. And right around that, again, 6th, 7th, 8th of January is when I have memories that I'm able to go back on and say, "Oh, yeah, that was right in the beginning of January." Before that, though, I have no memories.

Interviewer: Wow. So, Dr. Grandhi, I want to go to you at this point. When did Zoe come into the care of you, your team, the University of Utah Hospital?

Dr. Grandhi: As I recall it, I didn't find out about Zoe until Sunday morning first thing. I know that she presented as a transfer to our hospital, and clearly, she had traumatic injuries. And the first principle of what we do is just stabilize the patient. The trauma surgeons and a number of other services are super important and are our partners in making sure that a patient is appropriately stabilized.

And then my partner was actually on call and received the first call about her. He then got in touch with me. We do a really nice job within our department about communicating about patients with traumatic brain injuries, and specifically, patients with severe traumatic brain injuries.

So I remember that Sunday morning very well because she was downstairs in our surgical ICU. I went and saw her and just looked at her images, and then went out and talked to her dad who was sitting in the waiting room all by himself.

I remember the exact seat he was seated in early on that Sunday morning, probably around 8:00 a.m. or 9:00 a.m. And he was just by himself. I just walked up to him and told him what my assessment was of the situation based on looking at her head CT and things like that.

And at that point, it was just me trying to tell him that we're going to do our best to take care of her, that she presented with what we call a severe traumatic brain injury, and what the principles of managing patients with that are, and also, honestly, giving him hope.

Interviewer: When we talk about traumatic brain injury, is it a lot of skiing injuries, sports injuries? What is the most common type of traumatic brain injury?

Dr. Grandhi: Traumatic brain injury is a significant burden in the Western world. It's the number one cause of death amongst young folks in the Western world.

Traumatic brain injury falls into three buckets: severe traumatic brain injury, moderate traumatic brain injury, and mild traumatic brain injury. And oftentimes, patients with mild traumatic brain injuries don't even come into the hospital. We call it a concussion. And oftentimes, a patient may stay at home after hitting their head, or being involved in a sports injury, or a motor vehicle collision, or falling and hitting their head.

The burden of traumatic brain injury in the United States today is about 2.5 million patients per year. So many patients don't even come into the hospital. Many patients are discharged from the ER.

Interviewer: Zoe and her accident, of those three buckets, what did hers fall into, and why?

Dr. Grandhi: Zoe had a severe traumatic brain injury. And the way we diagnose severe traumatic brain injury is quite simple. We just gauge it in terms of what their neurologic exam is when they come in. So are they able to open their eyes? Are they able to speak? Are they able to follow commands?

Interviewer: And Zoe was unable to do those things?

Dr. Grandhi: Correct.

Interviewer: Wow. Zoe, do you remember any pieces or parts of the story? How did you feel when you were first, I guess, coming out of it?

Zoe: Yeah. Again, like I said before, the first memories I have are really in the long-term care facility that I was transferred to after leaving The U. I think it was sort of a slow realization.

And then since then, I would say I've noticed things that are sort of side effects or fallouts from having a severe traumatic brain injury: getting frustrated much more easily, being able to jump to anger much more easily, having very little patience, amongst many others. So it was very much a slow realization and slow rollout. And then still to this day, new things come up.

So it was much more slow. It wasn't similar to if you broke your arm and someone said, "Oh, you broke your arm," and then they casted it up right then and there. It was much more prolonged than that and slow realization.

My initial thought, honestly, was because I was awake and lucid and conscious, "Oh, my brain is fine. Well, everything is good. I can speak. I can see. I can hear. I can eat. I have my motor functions." And so, initially, I didn't think too much about the effects on my brain, and that did come up much later and still continues to this day.

Interviewer: Dr. Grandhi, when it comes to treatment of a case like Zoe, what was done to help Zoe get from the accident to where she was stabilized and in, I guess, a longer-term facility to kind of monitor her?

Dr. Grandhi: Well, I think we need to kind of dial it back a little bit to understand the management principles of patients with severe traumatic brain injury. And it starts, honestly, in the pre-hospital setting in which those who are on the first line understand how to manage a person, particularly with a pathology as significant as severe traumatic brain injury.

So first things first, getting the patient stabilized in the field, making sure that people are very cognizant of taking care of the patient, immobilizing their neck. Again, we don't know if a patient has had an injury to the cervical spine. Zoe clearly hit trees, so she could have very easily had damage to her neck, to the bones of her neck, spinal cord, etc. So getting a patient stabilized at the point of injury, then making a decision of where the patient goes.

There is data to show improved outcomes in patients who have a severe traumatic brain injury who are taken to Level 1 trauma centers. So understanding where to send the patient when the patient comes in.

Again, we have a huge bevy of services that are there in the ER, in the trauma bay awaiting a patient, because there's pre-hospital notification. And so if a person is coming in as a Level 1 trauma to a Level 1 trauma center, we do have orthopedics right there. Neurosurgery is right there in the trauma bay. Obviously, trauma surgery, the ER doctors, a number of different services and specialties are there awaiting the patient.

Airway management is important, worrying about circulation, blood pressure, ensuring that there's no intra-abdominal injuries. After that, there are a lot of scans that are ordered inclusive of CT scans that are literally performed head to toe to make sure that we're not missing significant injuries that need actionable treatment, such as rushing a patient up to the operating room for an intra-abdominal injury.

That being said, once that is done and there's nothing imminent that needs to be treated emergently, the patient is generally taken up to the ICU. And in Zoe's case and a patient with a severe traumatic brain injury, they're ventilated, and then there's a lot of management that occurs then predicated on blood pressure management, good oxygenation for the patient.

And for patients with severe traumatic brain injury, when we know a patient has a severe traumatic brain injury, we place particular monitors in the patient's brain because we're obligated to make sure that we have good control of intracranial pressure. So we want to make sure that we know what a patient's intracranial pressure is, and we need to keep it below certain thresholds.

We clearly know what the patient's brain perfusion is in terms of what's the state of blood pressure to brain tissue. So we monitor a patient's systemic blood pressure, their body's blood pressure well, and have to get the brain perfusion pressure in a particular range.

That's a quick summation of the management principles of a patient with severe traumatic brain injury. Not every patient requires a big-time operation and removing part of the skull or sucking out blood, but when we do place brain monitors, we do have to drill a small hole in people's skull to place these monitors. We have to remember that brain injury comes in many different flavors, even severe traumatic brain injuries.

Interviewer: So you just keep an eye on all the things that are going on with your monitors and everything to see whether or not there's injury?

Dr. Gandhi: Absolutely. And we use CAT scans liberally to help us understand more about the evolution of the brain injury. Zoe did have blood in her head, no question about it, but we did not feel that this blood would require us to take her to the operating room for an emergent surgery to remove the blood.

Interviewer: It's my understanding that Zoe then was a part of a study dealing with neuromonitoring. So for someone who's listening right now, what exactly is neuromonitoring, and why is it so important that we do research with it?

Dr. Gandhi: Whenever someone is classified as having a severe traumatic brain injury, we know from years of research and guidelines and a lot of work from really experienced, savvy, thoughtful leaders in the field that patients should get particular things monitored.

As I had said, we want to get invasive arterial blood pressure monitoring so that we can get a good second-to-second, moment-to-moment gauge of what a person's blood pressure is not using one of those expandable blood pressure cuffs. So this is something that allows us to know on a moment-to-moment basis what a person's blood pressure is doing.

We also ensure that the patient has adequate ventilation using a breathing tube. We study their intracranial pressure via an intracranial pressure monitor.

Finally, one of the things that has been important recently in the care of patients with severe traumatic brain injuries is the concept of whether brain tissue oxygenation can help guide therapy for a patient with a severe traumatic brain injury.

So historically, many university centers across the world, many experienced Level 1trauma centers have been using brain tissue oxygenation monitoring, basically almost as though you had a pulse oximeter of brain tissue. Many folks around the world have used brain tissue oxygenation monitoring as another way to help manage their patients with severe traumatic brain injury.

Here at the University of Utah and also many sites throughout this country and across the world in a separate study have decided to do a randomized controlled trial on this and understanding whether it will bear out in a huge patient population of improving outcomes. And Zoe was enrolled in that trial, and the trial is called BOOST-3.

Interviewer: So what exactly is BOOST-3 looking to do?

Dr. Grandhi: What we're looking for in the BOOST-3 trial is to determine whether using brain tissue oxygenation monitoring in the care of patients with severe traumatic brain injury improves outcomes at six months.

This is over and above using traditional monitoring techniques such as intracranial pressure monitoring and cerebral perfusion pressure monitoring that are already used commonly as part of guidelines that have been established in taking care of patients like Zoe.

Interviewer: So, Zoe, we've been talking a lot about kind of the medical side of things. I want to go back to you. What was it like when you first had Dr. Grandhi or any of the other specialists kind of explain the condition to you and what was going to be expected moving forward?

Zoe: I think in all the research that I've done and the people around me have done and then my discussions with Dr. Grandhi initially and shortly thereafter, and from what I gather from all of that, is that it's largely unexpected. The results and the things that come of it are known and yet unknown, right? It's things that they know come from a severe traumatic brain injury and then there are things that you don't really know will come up until they come up and until you experience them.

So from what I've been able to dissect from this injury is kind of pick apart, or notice rather, the moments in my own life where the thought comes into my head saying, "No, this isn't really you. This isn't really the Zoe that has made it to this point." "This is the TBI speaking," I guess, for lack of a better term or phrase.

An example would be if I'm feeling really, really agitated one day or even one hour and then the next hour I'm back to feeling normal again. So it's really quite a rollercoaster, I would say.

Interviewer: But what did it feel like to kind of hear that? I mean, as an outsider, as someone who's never experienced this kind of thing, that sounds kind of scary to me.

Zoe: Well, I would say more jarring than frightening. As the patient or as the person with a severe TBI, you don't necessarily . . . or I didn't, at least, necessarily believe the things that were being told to me. Not that I would think, "Oh, Dr. Grandhi is a liar," but I didn't necessarily believe it until those things started to show up for me in my own life later on and as time went on.

So months later, it's coming up on a year, so a full year later, I notice things that they told me initially that I might feel or that may come up. And at the time, I was thinking, "Well, I feel fine now, so we're good. We're all good here. Have a nice day." So it wasn't until up to this point that I think, "Oh, okay. I see what they mean by this progression and regression of things that may come and go," and things that I might feel that I didn't think I would feel at the time.

So it was definitely helpful to hear that then, and thinking about it now, "Oh, okay. They were right all along. They know what they're talking about."

Dr. Grandhi: I think it's really important to understand that while we as physicians, particularly as neurosurgeons who take care of patients with severe traumatic brain injury, I look at Zoe, and we raise our hands and we run a victory lap saying that she is a success.

And first things first is just in the acute setting, there's more research coming out that shows that if you are able to get a patient through the acute brain injury setting and manage them correctly and take care of them, we should not be nihilistic about where they will be one year later.

There's new research using big data sets that show that patients such as Zoe who come in with severe traumatic brain injury can have favorable outcomes at one year. Part of this data set also shows that 20% of patients can perhaps have no disability at one year.

But that being said, Zoe's experience alludes to the fact that we cannot forget about our patients. They still sometimes experience some sequalae that are hard to just kind of put a finger on. Like Zoe talks about, just agitation, maybe irritability, maybe memory issues.

So this is a process, an evolution, and it's really important for us to be able to support our patients, get them the correct resources, and really kind of steer them and continue to shepherd them through the process, which may take many more years.

Again, the concept of neuromonitoring for patients with traumatic brain injury only pertains to patients with severe traumatic brain injury, patients who are in a coma, patients who come into a hospital in a comatose state.

And I think we're going to learn a lot through this study as well as over the next years of how to really target various treatment thresholds and really tailor a patient's care to perhaps the type of pathology that they're coming in with.

So this is really important to patients with severe traumatic brain injury, but for the audience out there who is interested in traumatic brain injury in general, because most of the patients who experience a traumatic brain injury don't come in like Zoe in a coma, we're learning a lot about traumatic brain injury in general.

We're learning that there are so many different components to living with a traumatic brain injury. We are understanding that there are perhaps new ways of diagnosing patients and understanding what's called biomarkers and their role and understanding whether they're different symptoms, sequalae, or phenotypes that people experience after a traumatic brain injury.

Finally, it's really, again, very important to support our patients because it's not just the acute recovery stage. One of the people who trained me told me the biggest misnomer in patients who come in with mild traumatic brain injury, which is sometimes called a concussion, is there's nothing mild about it if you experience headaches two months after the fact, or if you have problems with staring at your computer screen if you're a person who works on computers and have eye strain after that, or have problems with balance. There's nothing mild about it.

And now the question is, "How can we support our patients better and get them the needed resources they need to get back on their feet and get their life back in order?"

Interviewer: So, Zoe, you're 25 now. It's been a year since the initial incident. How have you felt along the process? And how do you mark your own success and, I guess, healing from this particular incident?

Zoe: It actually took quite a while for me to recognize my own success, my own progress. It's really been just recently, actually, that I've been able to think to myself, "Oh, okay. You can actually do that thing now that you weren't able to do three months ago, four months ago."

It's more so just the ability to recognize those things. And I wasn't able to recognize those things previously. So it's been really difficult to measure my own progress based on what that looks like or what that has looked like in the past year.

I mean, highs, overall, I would say the ability to remember. Honestly, my short-term memory was completely restarted, completely obliterated in the beginning, and I wasn't able to hold a memory for several minutes. I would forget the thing before. So my working memory and my short-term memory have improved significantly.

Luckily, nothing really ever happened to my long-term memory, so I was able to remember years past. I could tell you where exactly I was and who I was with, especially right in the early beginning.

One of the most difficult things, but probably does not top the list, that I've experienced from the fallout, if you will, is the changing of relationships in my life. Friendships and various other things that have been really difficult to not only maintain, but to offer my lived experience as it is and as I see it and as I experience it. It's extremely difficult to explain the mindset that I have and where my brain is at on any given day.

And luckily, some of them have had extreme understanding and extreme patience with me. And that's really all I ask of the people in my life now, is, "Please be patient with me and my progress and the things you likely don't see on a day-to-day basis." On hour-by-hour basis even.

I've told the people closest to me, "This could be a years-long journey process, if you will, for my mental state, so the patience is so appreciated."

And then the highs . . . To be quite frank, I think the highs for me personally, they've been recognized by the people in my life for a while now, for the last year, but I personally have not been able to see or really process or digest those highs.

So it's really just been very recent in the last few months that I've been able to look at myself and say, "Wow, you can do that now after being completely immobile for nearly two months," or, "Wow, you can move that way again," or, "You can stretch that way again."

I used to and would eventually like to get back to very, very involved in hot yoga. I used to do hot yoga frequently. And before that, I was a gymnast and a dancer. So in the beginning, it was very excruciating for me to, say, not even touch my toes. And that was a huge blow more so to my ego than anything else, but a huge blow nonetheless.

And so I think the highs now are being able to recognize that, "Hey, I am able to touch my toes," and I stretch, and I exercise, and I do all these things every single day to better myself.

Initially, it was very much like, "Wow, you aren't able to do this? What happened?" And then it was up to a few months ago that I started telling myself, "No, you have to be much more patient to yourself, much more kind to yourself," than the completely and constant berating myself for why I'm not able to do something, or accomplish something, or say something in the way that I want to say it, etc.

Dr. Gandhi: I think that was just incredible to hear. As I said before, we run laps when we look at Zoe, but to hear her personal experience and understand that this is not over for her and understand what she goes through and also understand what defines us is the little things that make us who we are. Zoe touching her toes, doing hot yoga, it's incredible. It makes us really take a step back and understand this as a human experience, understand this as a personal experience.

The privilege of being able to be involved in Zoe's care and the care of others is not lost when you hear these things. The story of Zoe and patients like Zoe is not done in December 2021. It's an experience that she's going to live through and get through for the rest of her life.

She's sitting 10 feet away from me right now and her mom is right here as well. She's going to get there, and we just have to do everything we can to support her. She's just incredible. And to just hear Zoe, hear her voice come through in this experience is just profound for us. As many times as I've seen Zoe, I've never known these little things about Zoe, and it's amazing to hear.

Interviewer: To find out more about traumatic brain injury as well as the services offered through the brain injury program at the Craig H. Neilsen Rehabilitation Hospital, visit the link in the episode description.

Interviewer: According to the Centers for Disease Control and Prevention, more than two million Americans experience a brain injury each year. While some of these injuries result in relatively short-term impact on a day-to-day function, others can lead to long-term challenges or even a permanent disability.

Today, we'll be speaking with Zoe, a young woman who experienced a traumatic brain injury after an accident and the long journey of her recovery and the daily experience of overcoming the long-term challenges of life after an accident like this.

And to help us better understand the medical side of a traumatic brain injury, joining us is associate professor of neurosurgery at University of Utah Health, Dr. Ramesh Grandhi, the doctor who helped stabilize Zoe after her accident.

Zoe, why don't we start with what kind of led to your traumatic brain injury in the first place? What exactly happened?

Zoe: Yeah. Well, interesting story. I had just moved to Salt Lake City in August of 2020, and this occurred . . . or rather, my accident occurred December 5, 2020. So I had just shy of five months in the state, really.

So I hadn't experienced a lot, but a friend and I really wanted to ski together. I bought a season pass at Alta, was really excited to get up there. And it was day one, in fact, of the ski season that this happened. So really did not get any other skiing in, obviously, but this was day one.

Yeah, I mean, I don't remember a whole lot about the day itself. I have spotty memories of the drive up to Alta, getting to Alta. I actually have some spotty memories of being on the lift up to the first run. After that, I don't remember anything. I remember a bit of skiing, and that's really about it in terms of the day.

And then subsequently, upon waking up, I have absolutely no memory of the remainder of December. My memory is really spotty from about Thanksgiving up to December 5th. So Thanksgiving, I would say, is the last clear memory that I have and everything else is kind of spotty. It appears in my head almost as if I made it all up.

I've had to ask a lot of people, especially family members, "Did this really happen? Can you describe this thing to me or remind me who was at Thanksgiving again?" I never would have guessed something like this when I first started skiing with my dad 10-plus years ago.

And I was maybe 500 yards behind several of my friends, so I was alone during the actual collision. I ran into this group of trees that sat right in the middle of the run that I was on at Alta.

In this tree well, it was icy. I slipped on the snow evidently and collided with some trees in the tree well. What I would assume happened at that point is I was knocked unconscious by the collision and then fell and was hidden by this tree well and this group of trees. And then because I wasn't found until about four hours later, I had become buried or covered by snow by people skiing by, obviously.

Interviewer: Sure. So you're spotty memory-wise from Thanksgiving to . . . When did you start to remember things again?

Zoe: Right. So really, my lucidity, I would say, started to come back right around January 6th, 7th, 8th, right in that area. This is purely what I was told, is that I woke up somewhere mid to end of December. The rest of December went by. I was then transferred to a long-term care facility outside of Salt Lake City. And right around that, again, 6th, 7th, 8th of January is when I have memories that I'm able to go back on and say, "Oh, yeah, that was right in the beginning of January." Before that, though, I have no memories.

Interviewer: Wow. So, Dr. Grandhi, I want to go to you at this point. When did Zoe come into the care of you, your team, the University of Utah Hospital?

Dr. Grandhi: As I recall it, I didn't find out about Zoe until Sunday morning first thing. I know that she presented as a transfer to our hospital, and clearly, she had traumatic injuries. And the first principle of what we do is just stabilize the patient. The trauma surgeons and a number of other services are super important and are our partners in making sure that a patient is appropriately stabilized.

And then my partner was actually on call and received the first call about her. He then got in touch with me. We do a really nice job within our department about communicating about patients with traumatic brain injuries, and specifically, patients with severe traumatic brain injuries.

So I remember that Sunday morning very well because she was downstairs in our surgical ICU. I went and saw her and just looked at her images, and then went out and talked to her dad who was sitting in the waiting room all by himself.

I remember the exact seat he was seated in early on that Sunday morning, probably around 8:00 a.m. or 9:00 a.m. And he was just by himself. I just walked up to him and told him what my assessment was of the situation based on looking at her head CT and things like that.

And at that point, it was just me trying to tell him that we're going to do our best to take care of her, that she presented with what we call a severe traumatic brain injury, and what the principles of managing patients with that are, and also, honestly, giving him hope.

Interviewer: When we talk about traumatic brain injury, is it a lot of skiing injuries, sports injuries? What is the most common type of traumatic brain injury?

Dr. Grandhi: Traumatic brain injury is a significant burden in the Western world. It's the number one cause of death amongst young folks in the Western world.

Traumatic brain injury falls into three buckets: severe traumatic brain injury, moderate traumatic brain injury, and mild traumatic brain injury. And oftentimes, patients with mild traumatic brain injuries don't even come into the hospital. We call it a concussion. And oftentimes, a patient may stay at home after hitting their head, or being involved in a sports injury, or a motor vehicle collision, or falling and hitting their head.

The burden of traumatic brain injury in the United States today is about 2.5 million patients per year. So many patients don't even come into the hospital. Many patients are discharged from the ER.

Interviewer: Zoe and her accident, of those three buckets, what did hers fall into, and why?

Dr. Grandhi: Zoe had a severe traumatic brain injury. And the way we diagnose severe traumatic brain injury is quite simple. We just gauge it in terms of what their neurologic exam is when they come in. So are they able to open their eyes? Are they able to speak? Are they able to follow commands?

Interviewer: And Zoe was unable to do those things?

Dr. Grandhi: Correct.

Interviewer: Wow. Zoe, do you remember any pieces or parts of the story? How did you feel when you were first, I guess, coming out of it?

Zoe: Yeah. Again, like I said before, the first memories I have are really in the long-term care facility that I was transferred to after leaving The U. I think it was sort of a slow realization.

And then since then, I would say I've noticed things that are sort of side effects or fallouts from having a severe traumatic brain injury: getting frustrated much more easily, being able to jump to anger much more easily, having very little patience, amongst many others. So it was very much a slow realization and slow rollout. And then still to this day, new things come up.

So it was much more slow. It wasn't similar to if you broke your arm and someone said, "Oh, you broke your arm," and then they casted it up right then and there. It was much more prolonged than that and slow realization.

My initial thought, honestly, was because I was awake and lucid and conscious, "Oh, my brain is fine. Well, everything is good. I can speak. I can see. I can hear. I can eat. I have my motor functions." And so, initially, I didn't think too much about the effects on my brain, and that did come up much later and still continues to this day.

Interviewer: Dr. Grandhi, when it comes to treatment of a case like Zoe, what was done to help Zoe get from the accident to where she was stabilized and in, I guess, a longer-term facility to kind of monitor her?

Dr. Grandhi: Well, I think we need to kind of dial it back a little bit to understand the management principles of patients with severe traumatic brain injury. And it starts, honestly, in the pre-hospital setting in which those who are on the first line understand how to manage a person, particularly with a pathology as significant as severe traumatic brain injury.

So first things first, getting the patient stabilized in the field, making sure that people are very cognizant of taking care of the patient, immobilizing their neck. Again, we don't know if a patient has had an injury to the cervical spine. Zoe clearly hit trees, so she could have very easily had damage to her neck, to the bones of her neck, spinal cord, etc. So getting a patient stabilized at the point of injury, then making a decision of where the patient goes.

There is data to show improved outcomes in patients who have a severe traumatic brain injury who are taken to Level 1 trauma centers. So understanding where to send the patient when the patient comes in.

Again, we have a huge bevy of services that are there in the ER, in the trauma bay awaiting a patient, because there's pre-hospital notification. And so if a person is coming in as a Level 1 trauma to a Level 1 trauma center, we do have orthopedics right there. Neurosurgery is right there in the trauma bay. Obviously, trauma surgery, the ER doctors, a number of different services and specialties are there awaiting the patient.

Airway management is important, worrying about circulation, blood pressure, ensuring that there's no intra-abdominal injuries. After that, there are a lot of scans that are ordered inclusive of CT scans that are literally performed head to toe to make sure that we're not missing significant injuries that need actionable treatment, such as rushing a patient up to the operating room for an intra-abdominal injury.

That being said, once that is done and there's nothing imminent that needs to be treated emergently, the patient is generally taken up to the ICU. And in Zoe's case and a patient with a severe traumatic brain injury, they're ventilated, and then there's a lot of management that occurs then predicated on blood pressure management, good oxygenation for the patient.

And for patients with severe traumatic brain injury, when we know a patient has a severe traumatic brain injury, we place particular monitors in the patient's brain because we're obligated to make sure that we have good control of intracranial pressure. So we want to make sure that we know what a patient's intracranial pressure is, and we need to keep it below certain thresholds.

We clearly know what the patient's brain perfusion is in terms of what's the state of blood pressure to brain tissue. So we monitor a patient's systemic blood pressure, their body's blood pressure well, and have to get the brain perfusion pressure in a particular range.

That's a quick summation of the management principles of a patient with severe traumatic brain injury. Not every patient requires a big-time operation and removing part of the skull or sucking out blood, but when we do place brain monitors, we do have to drill a small hole in people's skull to place these monitors. We have to remember that brain injury comes in many different flavors, even severe traumatic brain injuries.

Interviewer: So you just keep an eye on all the things that are going on with your monitors and everything to see whether or not there's injury?

Dr. Gandhi: Absolutely. And we use CAT scans liberally to help us understand more about the evolution of the brain injury. Zoe did have blood in her head, no question about it, but we did not feel that this blood would require us to take her to the operating room for an emergent surgery to remove the blood.

Interviewer: It's my understanding that Zoe then was a part of a study dealing with neuromonitoring. So for someone who's listening right now, what exactly is neuromonitoring, and why is it so important that we do research with it?

Dr. Gandhi: Whenever someone is classified as having a severe traumatic brain injury, we know from years of research and guidelines and a lot of work from really experienced, savvy, thoughtful leaders in the field that patients should get particular things monitored.

As I had said, we want to get invasive arterial blood pressure monitoring so that we can get a good second-to-second, moment-to-moment gauge of what a person's blood pressure is not using one of those expandable blood pressure cuffs. So this is something that allows us to know on a moment-to-moment basis what a person's blood pressure is doing.

We also ensure that the patient has adequate ventilation using a breathing tube. We study their intracranial pressure via an intracranial pressure monitor.

Finally, one of the things that has been important recently in the care of patients with severe traumatic brain injuries is the concept of whether brain tissue oxygenation can help guide therapy for a patient with a severe traumatic brain injury.

So historically, many university centers across the world, many experienced Level 1trauma centers have been using brain tissue oxygenation monitoring, basically almost as though you had a pulse oximeter of brain tissue. Many folks around the world have used brain tissue oxygenation monitoring as another way to help manage their patients with severe traumatic brain injury.

Here at the University of Utah and also many sites throughout this country and across the world in a separate study have decided to do a randomized controlled trial on this and understanding whether it will bear out in a huge patient population of improving outcomes. And Zoe was enrolled in that trial, and the trial is called BOOST-3.

Interviewer: So what exactly is BOOST-3 looking to do?

Dr. Grandhi: What we're looking for in the BOOST-3 trial is to determine whether using brain tissue oxygenation monitoring in the care of patients with severe traumatic brain injury improves outcomes at six months.

This is over and above using traditional monitoring techniques such as intracranial pressure monitoring and cerebral perfusion pressure monitoring that are already used commonly as part of guidelines that have been established in taking care of patients like Zoe.

Interviewer: So, Zoe, we've been talking a lot about kind of the medical side of things. I want to go back to you. What was it like when you first had Dr. Grandhi or any of the other specialists kind of explain the condition to you and what was going to be expected moving forward?

Zoe: I think in all the research that I've done and the people around me have done and then my discussions with Dr. Grandhi initially and shortly thereafter, and from what I gather from all of that, is that it's largely unexpected. The results and the things that come of it are known and yet unknown, right? It's things that they know come from a severe traumatic brain injury and then there are things that you don't really know will come up until they come up and until you experience them.

So from what I've been able to dissect from this injury is kind of pick apart, or notice rather, the moments in my own life where the thought comes into my head saying, "No, this isn't really you. This isn't really the Zoe that has made it to this point." "This is the TBI speaking," I guess, for lack of a better term or phrase.

An example would be if I'm feeling really, really agitated one day or even one hour and then the next hour I'm back to feeling normal again. So it's really quite a rollercoaster, I would say.

Interviewer: But what did it feel like to kind of hear that? I mean, as an outsider, as someone who's never experienced this kind of thing, that sounds kind of scary to me.

Zoe: Well, I would say more jarring than frightening. As the patient or as the person with a severe TBI, you don't necessarily . . . or I didn't, at least, necessarily believe the things that were being told to me. Not that I would think, "Oh, Dr. Grandhi is a liar," but I didn't necessarily believe it until those things started to show up for me in my own life later on and as time went on.

So months later, it's coming up on a year, so a full year later, I notice things that they told me initially that I might feel or that may come up. And at the time, I was thinking, "Well, I feel fine now, so we're good. We're all good here. Have a nice day." So it wasn't until up to this point that I think, "Oh, okay. I see what they mean by this progression and regression of things that may come and go," and things that I might feel that I didn't think I would feel at the time.

So it was definitely helpful to hear that then, and thinking about it now, "Oh, okay. They were right all along. They know what they're talking about."

Dr. Grandhi: I think it's really important to understand that while we as physicians, particularly as neurosurgeons who take care of patients with severe traumatic brain injury, I look at Zoe, and we raise our hands and we run a victory lap saying that she is a success.

And first things first is just in the acute setting, there's more research coming out that shows that if you are able to get a patient through the acute brain injury setting and manage them correctly and take care of them, we should not be nihilistic about where they will be one year later.

There's new research using big data sets that show that patients such as Zoe who come in with severe traumatic brain injury can have favorable outcomes at one year. Part of this data set also shows that 20% of patients can perhaps have no disability at one year.

But that being said, Zoe's experience alludes to the fact that we cannot forget about our patients. They still sometimes experience some sequalae that are hard to just kind of put a finger on. Like Zoe talks about, just agitation, maybe irritability, maybe memory issues.

So this is a process, an evolution, and it's really important for us to be able to support our patients, get them the correct resources, and really kind of steer them and continue to shepherd them through the process, which may take many more years.

Again, the concept of neuromonitoring for patients with traumatic brain injury only pertains to patients with severe traumatic brain injury, patients who are in a coma, patients who come into a hospital in a comatose state.

And I think we're going to learn a lot through this study as well as over the next years of how to really target various treatment thresholds and really tailor a patient's care to perhaps the type of pathology that they're coming in with.

So this is really important to patients with severe traumatic brain injury, but for the audience out there who is interested in traumatic brain injury in general, because most of the patients who experience a traumatic brain injury don't come in like Zoe in a coma, we're learning a lot about traumatic brain injury in general.

We're learning that there are so many different components to living with a traumatic brain injury. We are understanding that there are perhaps new ways of diagnosing patients and understanding what's called biomarkers and their role and understanding whether they're different symptoms, sequalae, or phenotypes that people experience after a traumatic brain injury.

Finally, it's really, again, very important to support our patients because it's not just the acute recovery stage. One of the people who trained me told me the biggest misnomer in patients who come in with mild traumatic brain injury, which is sometimes called a concussion, is there's nothing mild about it if you experience headaches two months after the fact, or if you have problems with staring at your computer screen if you're a person who works on computers and have eye strain after that, or have problems with balance. There's nothing mild about it.

And now the question is, "How can we support our patients better and get them the needed resources they need to get back on their feet and get their life back in order?"

Interviewer: So, Zoe, you're 25 now. It's been a year since the initial incident. How have you felt along the process? And how do you mark your own success and, I guess, healing from this particular incident?

Zoe: It actually took quite a while for me to recognize my own success, my own progress. It's really been just recently, actually, that I've been able to think to myself, "Oh, okay. You can actually do that thing now that you weren't able to do three months ago, four months ago."

It's more so just the ability to recognize those things. And I wasn't able to recognize those things previously. So it's been really difficult to measure my own progress based on what that looks like or what that has looked like in the past year.

I mean, highs, overall, I would say the ability to remember. Honestly, my short-term memory was completely restarted, completely obliterated in the beginning, and I wasn't able to hold a memory for several minutes. I would forget the thing before. So my working memory and my short-term memory have improved significantly.

Luckily, nothing really ever happened to my long-term memory, so I was able to remember years past. I could tell you where exactly I was and who I was with, especially right in the early beginning.

One of the most difficult things, but probably does not top the list, that I've experienced from the fallout, if you will, is the changing of relationships in my life. Friendships and various other things that have been really difficult to not only maintain, but to offer my lived experience as it is and as I see it and as I experience it. It's extremely difficult to explain the mindset that I have and where my brain is at on any given day.

And luckily, some of them have had extreme understanding and extreme patience with me. And that's really all I ask of the people in my life now, is, "Please be patient with me and my progress and the things you likely don't see on a day-to-day basis." On hour-by-hour basis even.

I've told the people closest to me, "This could be a years-long journey process, if you will, for my mental state, so the patience is so appreciated."

And then the highs . . . To be quite frank, I think the highs for me personally, they've been recognized by the people in my life for a while now, for the last year, but I personally have not been able to see or really process or digest those highs.

So it's really just been very recent in the last few months that I've been able to look at myself and say, "Wow, you can do that now after being completely immobile for nearly two months," or, "Wow, you can move that way again," or, "You can stretch that way again."

I used to and would eventually like to get back to very, very involved in hot yoga. I used to do hot yoga frequently. And before that, I was a gymnast and a dancer. So in the beginning, it was very excruciating for me to, say, not even touch my toes. And that was a huge blow more so to my ego than anything else, but a huge blow nonetheless.

And so I think the highs now are being able to recognize that, "Hey, I am able to touch my toes," and I stretch, and I exercise, and I do all these things every single day to better myself.

Initially, it was very much like, "Wow, you aren't able to do this? What happened?" And then it was up to a few months ago that I started telling myself, "No, you have to be much more patient to yourself, much more kind to yourself," than the completely and constant berating myself for why I'm not able to do something, or accomplish something, or say something in the way that I want to say it, etc.

Dr. Gandhi: I think that was just incredible to hear. As I said before, we run laps when we look at Zoe, but to hear her personal experience and understand that this is not over for her and understand what she goes through and also understand what defines us is the little things that make us who we are. Zoe touching her toes, doing hot yoga, it's incredible. It makes us really take a step back and understand this as a human experience, understand this as a personal experience.

The privilege of being able to be involved in Zoe's care and the care of others is not lost when you hear these things. The story of Zoe and patients like Zoe is not done in December 2021. It's an experience that she's going to live through and get through for the rest of her life.

She's sitting 10 feet away from me right now and her mom is right here as well. She's going to get there, and we just have to do everything we can to support her. She's just incredible. And to just hear Zoe, hear her voice come through in this experience is just profound for us. As many times as I've seen Zoe, I've never known these little things about Zoe, and it's amazing to hear.

Interviewer: To find out more about traumatic brain injury as well as the services offered through the brain injury program at the Craig H. Neilsen Rehabilitation Hospital, visit the link in the episode description.

Interviewer: Severe, sudden, and sometimes debilitating face pain is a symptom of a disease called trigeminal neuralgia and some people suffer with the condition and don't even realize that's what they have. Or maybe it was misdiagnosed as something else so they can't get treatment.

Dr. Shervin Rahimpour is a neurosurgeon who specializes in the surgical treatment of trigeminal neuralgia, and he's going to help us understand how to come to that diagnosis. So first of all, you tell me it's a poorly diagnosed disease. What exactly do you mean by that?

Dr. Rahimpour: Often this pain is distributed around the cheek and jaw area. And so it's natural for patients to think that this is likely a result of their dental health. And so they often seek treatment through a dentist, usually, you know, undergo a tooth extraction or something like that, and that pain persists. So that's often why this is poorly diagnosed is because it overlaps with other common issues like having tooth pain.

Interviewer: Yeah. And I think a lot of us think well, the pain is here, this must be the source of the pain. It's in my mouth or my cheek, it must be the source. But that's not the case with this disease. Where does the pain originate from?

Dr. Rahimpour: The trigeminal nerve, which is one of the 12 cranial nerves that we have, supplies, amongst other things, the sensation that we feel over our face. So there are two nerves, one for each side. Each nerve supplies the sensation to that half of the face. And the nerve has three divisions associated with it. There's one that kind of overlays the forehead and around the eye. The other division is around the cheek area, and then a third division encompasses the jaw. And so most commonly, the pain is likely to affect those bottom two divisions, which is around the cheek and the jaw area, and that's where this overlap comes with potentially pain coming from your teeth.

Interviewer: And somebody goes to the dentist, they have an extraction done and that doesn't solve anything. Do they try to get a diagnosis beyond that, or do most people just give up or do you know?

Dr. Rahimpour: Yeah, I should add that sometimes it can be your teeth. So it is worth having that evaluation done by your dentist. But eventually, this pain syndrome is referred either to a pain specialist or even a neurologist. Those are the folks that typically end up diagnosing this as trigeminal neuralgia-type pain.

Interviewer: Explain some of the common symptoms that people might experience.

Dr. Rahimpour: Yeah, absolutely. So again, this pain used to be . . . this disease used to be known as suicide disease because it was such a horrible pain for patients to experience. And it's often a severe electric type jolt or stabbing pain involving one or more of the divisions of the trigeminal nerve of the face. It's often set off by very relatively innocuous stimuli. What I mean by that is anything as simple as just a gust of wind, or talking or brushing your teeth, or having water hit your face when you're taking a shower. These are kind of the very, very basic and innocuous things that can trigger that type of pain.

Interviewer: And what's going on with the nerves that is causing this pain?

Dr. Rahimpour: The vast majority of cases are thought to be caused by a vessel sitting on the nerve root as it enters into the brainstem. And so what this vessel causes is damage over a period of time that ends up injuring the insulation around the nerve known as myelin. And then this can result in sort of aberrant firing of the nerve.

Interviewer: So it's rubbing against there, damaging the insulation every time your heart beats.

Dr. Rahimpour: That's exactly right.

Interviewer: It's damaging the . . . Okay.

Dr. Rahimpour: So the thought is that if we can remove or transpose this vessel from the nerve root . . .

Interviewer: Yeah, get it away from there.

Dr. Rahimpour: Get it away from there, that could potentially allow the nerve to heal and prevent some of this aberrant firing.

Interviewer: And if a patient has this type of pain, they would go to their primary care physician first likely. What would that workup look like?

Dr. Rahimpour: Typically, the patient has these classic types of symptoms or the stabbing electric type pains of the facial region, again, involving either one or more divisions of the trigeminal nerve. And we often ask patients, you know, "How is this pain brought about?" If it's something, again, wind, chewing, talking, anything like that, that's pretty consistent with trigeminal neuralgia. The pain also again persists to seconds to potentially minutes, and so that's another signature or hallmark of the disease. And we often look for patients that, you know, typically we find that this disease occurs more often in the older population. So the incidence kind of climbs as age goes up. But this can also be a result of some other secondary processes. Certainly, it can range anything from facial trauma and include other secondary causes like multiple sclerosis.

Interviewer: At what point should a person consider consulting with a physician who specializes in trigeminal neuralgia?

Dr. Rahimpour: I think early on it's best to have the medical therapy be optimized. So a lot of the medications we use for this type of pain are actually anticonvulsants used in epilepsy. The reason why is because, similar to epilepsy, the nerve can act on its own and fire. And so the idea is can we stabilize this nerve so that it prevents it from firing, the same way that we try for epilepsy. Those types of medications are started, they're increased to a therapeutic level and then the patient is evaluated to see if this treats their pain. Again, the vast majority of patients respond to these medications, something upwards of 90%, but half of those patients end up having unwanted drug side effects. And then, of course, there's a 10% that did not respond to the medication at all.

Interviewer: Yeah. And this medication, is it kind of a dialing-in process, you've kind of got to figure out the sweet spot for everybody?

Dr. Rahimpour: Yeah, I would say that most anticonvulsants are started at a low dose and gradually titrated up.

Interviewer: And for the individual that is not responding to medication, or the side effects are just so terrible that it's really impacting the quality of life, and that's where the microvascular decompression procedure comes in. That's what you're doing there.

Dr. Rahimpour: That's exactly right. So for patients that aren't responding to the medication, if they've had an MRI scan that shows that potentially there might be a vessel there pushing on the nerve, that's where microvascular decompression can play a role.

Interviewer: What about for patients where they have the condition, and it's not pressing against that nerve? That's possible, right?

Dr. Rahimpour: Patients where we don't necessarily see a blood vessel pushing on the nerve, or they might not necessarily be a good operative candidate, we can offer other minimally invasive approaches. Those approaches include percutaneous rhizotomies. The premise there is that we with a needle go to the base of this nerve, known as the trigeminal ganglion, and we try to damage that nerve to sort of disrupt the pain signal. The other option is using radiation in the same way that folks use it for tumors to try to focus the radiation and try to damage the nerve again, to stop this pain signaling.

Interviewer: Are these other last two procedures, are they an alternative to somebody getting a microvascular decompression?

Dr. Rahimpour: They are alternatives, but I should add that they're not as efficacious. So when we do find patients are good candidates for microvascular decompression, we try to advocate for that as it gives us the best chance for pain freedom.

Interviewer: After somebody has the microvascular decompression, what is the success rate that that actually takes care of the pain?

Dr. Rahimpour: We expect that patients often have immediate pain relief after surgery, especially if we do find a blood vessel that's compressing the nerve. Historically, 70% to 80% of patients are still pain-free at five years.

Interviewer: And the other 20%?

Dr. Rahimpour: Pain can reoccur. And if that's the case, we can always revisit other possible interventions, including some of the percutaneous and radiosurgery techniques that I mentioned.

Interviewer: For the patients who get the microvascular decompression, what's the satisfaction rate among those patients? I hear this could be life-changing for some people.

Dr. Rahimpour: Absolutely. So again, this is a very debilitating disease. I mean, you can imagine if it's affecting the way you eat, and the way you conduct yourself throughout your day-to-day in anticipation of a sudden pain strike, being pain-free means everything. And so when patients are pain-free again, where we expect that to be the case in the vast, vast majority of times after microvascular decompression, this is absolutely life-changing.

Interviewer: For patients that have survived a stroke, there could be some worry that they might be at risk for a second stroke.

Dr. Steven Edgley is the Director of Stroke Rehabilitation at University of Utah Health. Dr. Edgley, what can people who have suffered a stroke do to minimize their chances of having another one?

Dr. Edgley: The most robust way to prevent another stroke or heart disease is to control hypertension. If we put these three things into three buckets, controlling hypertension, its own bucket. It's so important. The second bucket is controlling things like cholesterol or diabetes or if you have AFib, which is an abnormal heart rhythm. So these are other medical factors that lead to an increased risk of stroke and heart disease. And so I mentioned three, the three major factors, but everyone should go to their own and primary care physician to outline and identify their personal risk factors.

The third bucket is lifestyle factors. And we can break those into diet, exercise, and what I would call avoidance of smoking, drugs, controlling your alcohol intake, things like that. So lifestyle factors, away from the doctor's office, things that you would do at home.

Interviewer: How do you best control hypertension? Let's go back to that first bucket. Is that diet and exercise? Is that usually some sort of medication?

Dr. Edgley: Both. Usually, medication works best. But diet and exercise play a role in controlling high blood pressure.

Interviewer: Generally, does a stroke, a person who's had their first stroke, do they have the hypertension that would more likely need medications to control as opposed to lifestyle?

Dr. Edgley: Both are truly important. So, certainly, if you have had a stroke due to hypertension, you need to be on some medication for that.

Interviewer: And then the second bucket, cholesterol, diabetes, AFib, or other medical factors you'd be discussing with your primary care physician. Again, is that medication generally to help control those things, or we do know that diet and exercise, again, can control those factors as well?

Dr. Edgley: Yes. So I'm talking about going to your primary care physician and getting on the appropriate medications. And I think of that third bucket, so it does influence a lot of risk factors. But I think of it as its own bucket, diet, exercise, and avoidance of harmful behaviors and substances.

Interviewer: So when we get to that third bucket with lifestyle behaviors, is it more difficult for somebody who's had a stroke to manage and control their diet and exercise? Is that a little bit more of a challenge?

Dr. Edgley: It is. They may have physical impairments that make exercise really difficult. And they may have physical mobility issues that make activity more difficult and leading to the problem of obesity. And so every one of us is on either an upward spiral or a downward spiral. And it's very, very important to, if you are on a downward spiral, to break that cycle. And a downward spiral means, you know, inactivity, leads to overweight, leads to poor muscle strength, leads to more inactivity and down and down we go. And patients can break that cycle, but it's got to be a conscious choice and an active choice.

Interviewer: So in a lot of ways, what you do, which is help stroke survivors with physical rehabilitation, is really important in breaking that downward spiral. I mean, I can speak from my experience, as somebody who has not had a stroke, I know it all comes out of exercise for me. If I'm exercising, then I tend to eat better. I tend to sleep better. I tend to do all those things. And I don't know if that's the case for everybody, but I would imagine that that physical activity component is pretty important.

Dr. Edgley: Yes. And that's true. And what we really try to do, we can't be everywhere for everyone, but we can set them out on a positive course. And so the most important thing is to be on the right uphill track and not a downward track.

Interviewer: Craniosynostosis. It's a condition that causes a newborn's head to be misshapen. And it should be treated. To learn more about the condition, how to identify it, and why it needs to be treated, we've got Dr. John Kestle, he's a pediatric neurosurgeon, and Dr. Faizi Siddiqi, he's a pediatric plastic surgeon. And they are experts. They do the surgery that actually treats craniosynostosis.

So let's start with the first question, which is very basic. Dr. Kestle, what is craniosynostosis?

Dr. Kestle: So it's a condition where the bones that are normally separate are fused. And it restricts growth and creates abnormal head shapes. The pattern is usually present at birth or very soon after birth. That's different from the benign conditions where the head shape gets distorted because the baby is laying on one side. Those babies have a normal shape in the beginning and their head shape gets distorted over the first couple of months of life because they're lying on one side.

Interviewer: How does a parent generally find out that their child has craniosynostosis or synostosis?

Dr. Siddiqi: When they're born, they're usually told that after delivery, as Dr. Kestle mentioned, the head is going to be a little misshapen from the birthing process. And that usually corrects within two to three weeks. If that doesn't correct, then they're kind of suspicious and they visit their pediatrician. And then hopefully that's when they're referred for further evaluation by us.

Interviewer: And then what does that head shape look like? We do have a link to a pamphlet that you have that can help a parent. But just describe it briefly.

Dr. Kestle: So the typical head shapes, number one, most common is sagittal synostosis. It makes the head long and narrow, and the forehead and the back of the head kind of stick out. And the back of the head is narrower than the middle of the head. You can see those features when you look down from above.

Probably the second most common type is metopic synostosis. And that's when the suture down the forehead closes early and the forehead looks like the bow of a boat, or a triangle.

The other two types are less common. One is coronal synostosis, and that misshapes one side of the forehead so the forehead is pulled back, and the nose is sometimes crooked, and the eye socket on that side is usually a little bit elevated. And then the very rare one is the lambdoid synostosis, where the back of the head is flat on one side and the ear tends to be pulled back toward the flat side.

Interviewer: So how is it diagnosed then? So a parent recognizes that their child might have a misshapen head, they're concerned, they would go to a pediatrician first?

Dr. Siddiqi: Certainly they visit with their pediatrician and then they're referred to our synostosis clinic for further evaluation.

Interviewer: Okay. The pediatrician doesn't do any sort of imaging or anything like that generally?

Dr. Siddiqi: Sometimes they do. Oftentimes they don't because they don't want to subject the child to a CT scan unless they've seen a specialist and they're confident of the diagnosis. So we would see those kids in the clinic. Most of the time, it's a clinical diagnosis.

Interviewer: Meaning it's just visual, you're visually confirming it?

Dr. Siddiqi: Yeah. But once we decide it is and we talk about surgery, then we would want to get a CT scan, generally speaking, to be definitive about the diagnosis. And the scan also gives us information about the brain, which is helpful as well.

Interviewer: Why do you choose a CT scan over, say, an X-ray or some other sort of imaging?

Dr. Siddiqi: A CT scan gives much more detail of not only the bones, but, as I said, also the brain as well.

Dr. Kestle: The X-ray is very unreliable in making the diagnosis. And the CT scan has been changed over the years so the dose of radiation that's received is lower and lower. So now it's a very reasonable thing to do. It gives excellent anatomy, helps us with planning a surgery, makes the surgery safer.

Interviewer: And, Dr. Siddiqi, when do you generally like to treat a synostosis then?

Dr. Siddiqi: So if we see a baby with, let's say, sagittal synostosis that comes in at 2 to 3 weeks of age, then we've seen that the optimal time for surgery would be somewhere around 3 months of age. Between 2 and 4 months of age. That's why we stress the importance of early referral.

And the reason for that is if we can get the kids in by that time, we can get the surgery done, and then we can get them in the helmet and the duration of a helmeting would be as short as six months. So if we see these kids later on, the helmeting duration is much longer.

Interviewer: And, Dr. Kestle, if a child doesn't receive treatment for a synostosis, what could be the potential outcome then?

Dr. Kestle: So the natural history is that the shape will stay the same or get progressively worse because everything is growing except the fused suture. So number one, it's an issue of shape and appearance.

Number two, there are potential effects on the brain if it's left untreated. There's an incidence around 15%, maybe 20%, in the kids with sagittal synostosis that the brain growth will be restricted. And that can lead to brain problems, chronic headache, possibly visual problems.

With the other types of synostoses, that number is a little higher. And so it's nearly impossible to predict which baby with synostosis is going to get into those brain problems later. But that incidence of raised pressure is enough that we worry about leaving it alone.

Occasionally, we'll see an older child who had a CT scan for another reason, like maybe a concussion, and we identify a fused suture. But their shape is normal, and they're healthy, and their brain is developing normally. That's the situation where we might just follow them. But the baby that has the abnormal shape soon after birth is the ones where we recommend treatment.

Dr. Siddiqi: I would just add that . . . echo what Dr. Kestle said. The two indications are the shape and the risk of pressure on the brain. But the shape is important. A lot of families ask, or even other providers say, "Is this cosmetic?" It's not cosmetic. Cosmetic means, by definition, it's normal and you're making it better. It's not normal to have craniosynostosis. I just wanted to make that clear.

Dr. Kestle: I just want to really emphasize that it's visual. It's the shape that makes the diagnosis. So much so that what we do for almost every patient is have the family send photos. And we can pretty much make the diagnosis from the photographs and then decide if they need additional testing, how quickly we need to see them, and so on. But it's really a visual inspection of the head shape that tells you the diagnosis 90-plus percent of the time.

Interviewer: So really at 3 weeks, if a parent suspects that their child might have a synostosis, they should get in contact with a couple of specialists or a specialty center such as yourselves. You would encourage them to do that as quickly as possible. Is time really of the essence?

Dr. Kestle: For sure. And we can make plans based on photos, and we can see them in the clinic and talk about it, and then targeting between 2 and 3 months for corrective surgery.

Interviewer: The Aging Brain Care Program at University of Utah Health offers a range of services that help prevent, manage, and educate patients and their loved ones about memory and thinking disorders as they get older.

Dr. Michelle Sorweid is a dementia and geriatric specialist who works with the group. Dr. Sorweid, now there's a lot of different cognitive disorders. I think a lot of us laypeople just think of memory disorders, like Alzheimer's or dementia. So why don't you walk us through some of the things the Aging Brain Care Program can help with?

Dr. Sorweid: Yeah. So the most common question that I get is, "What's the difference between Alzheimer's disease and dementia?" And I try to use kind of a picture or imagery of an umbrella. So the comparison I use is actually cancer or kind of a broad term. So dementia meaning folks who've had decline in memory and thinking in one or more areas over time and that has impacted their day-to-day life, meaning they might be needing help with things like managing their medications, managing their finances, there might be errors in driving, things like that. And so Alzheimer's disease is the most common cause of dementia, and so that's why it often gets overlapped with one another. But there's quite a few other causes, as you mentioned, things like Parkinson's disease and things in that family of conditions. There may be blood vessel disease causing someone's symptoms. And there's quite the spectrum, you know, before someone reaches a dementia syndrome or qualifies for that diagnosis. There may be symptoms that are consistent with normal aging or something we call mild cognitive impairment. And so that's kind of the spectrum we look at and help diagnose and determine, you know, what's the cause and how can we intervene to prevent decline.

Interviewer: You mentioned diagnosis, which is generally, in a lot of conditions, the most important thing, is to figure out actually what's going on, and it could also be one of the most challenging things. So a specialty clinic like this, how can you make a diagnosis more efficiently, more effectively, more accurately?

Dr. Sorweid: So just like when someone comes in with a cough, we usually need more information to figure out how we can treat that cough or how we can manage it. And so it's a little trickier because we're talking about the brain. But we do a pretty thorough physical exam and history, just as with any patient coming in with specific complaints. I usually like to have a brain MRI, because that's how we take a picture of the brain. It's the most specific way to look at it. And then we usually do additional, more objective testing. So if someone, you know, comes in with a specific complaint and symptoms, we don't necessarily just rely on that. We need some objective information. So we usually do a screening assessment and then, depending on the situation, might refer them to much longer, you know, three or four hours of memory and thinking assessments.

Interviewer: And after you have the diagnosis, then you would move on to what can be done about it. And as a layperson, my perception is, a lot of times, there's not a lot that can be done about it because it's part of the aging process, and once the cognitive decline starts, I mean, there's really no stopping it. There's no cure.

Dr. Sorweid: Absolutely. It's a common misperception that having memory changes is a part of the normal aging process, and though it is common, it is not normal. And so that's one common misperception, that memory changes are not necessarily a part of the normal aging process. And then, in addition, another common misperception is that there's nothing that can be done, and unfortunately, a lot of physicians have perseverated that misconception. And so, unfortunately, we're kind of working with an uphill battle because a lot of that has pervaded throughout the medical community as well. And that's why I kind of mentioned earlier is better. There's more we can do from a standpoint of intervention the earlier we know symptoms are developing. So that includes things like managing blood vessel disease risk factors, like high blood pressure, high cholesterol, sleep apnea. There's a lot of different conditions that we know we can treat and, therefore, prevent decline or slow decline.

Interviewer: So like physical conditions that could be causing that.

Dr. Sorweid: Absolutely.

Interviewer: Oh, okay. Well, that's encouraging because that's something that, you know, one could take care of.

Dr. Sorweid: Exactly. And so that's one piece of the puzzle. But the other piece is that a lot of families and patients aren't really well prepared for some of these changes, and knowing the diagnosis really helps us help them plan for their future, know how much financial impact this might make, know what to do as far as treatment goes, because the treatment varies depending on the diagnosis. And you may have heard in the news, there actually recently was a disease-modifying drug approved in early Alzheimer's disease. So we are looking at more and more options for treatment of Alzheimer's disease specifically.

Interviewer: And at the Aging Brain Care Program, you have a lot of different individuals that can help support that family, not just physicians and neurologists but also social work support and psychiatrists as well. How do they play into helping somebody that has a cognitive disorder?

Dr. Sorweid: Absolutely. So we have a social worker who helps provide both disease education and helping manage the expectations of families and patients as far as, again, you know, what is this disease going to look like, what do I need to prepare for. So she does a great job at supporting these families and ongoing management. We also have our geriatric psychiatry nurse practitioner who is amazing. And, you know, we know that depression is a very common symptom that goes hand in hand with a dementia process or cognitive disorders. And so she's a key player in our team in helping manage these patients.

Interviewer: And what is your ultimate hope for a patient that comes into the clinic when they leave? What would be the ultimate best outcome for you?

Dr. Sorweid: I think just kind of dissuading these common misconceptions that we discussed, is that we can do something to help them, that there is hope, that they are well supported, that they don't just get a diagnosis and scooted out the door, but that they have a team on their side to help support them through this journey.

Interviewer: It seems to me, you know, the purpose of a lot of health care is to improve quality of life or maintain quality of life. How important is that to what you do, and what does that look like?

Dr. Sorweid: Absolutely, and that's kind of the common theme in geriatrics, specifically, is that quality of life is our most important goal.

Interviewer: And what does quality of life for somebody who has some sort of cognitive disorder, a memory or thinking disorder look like?

Dr. Sorweid: That's an interesting question. I think that's a very evolving question and very patient-centered, meaning that may be very different for any one individual person. That might change from year to year or month to month even, and that's something that's kind of a moving target for a lot of people. So it's something that we have an ongoing discussion with patients and families about.

Interviewer: So the Aging Brain Care Program, is it just for people who have already started noticing a decline in their cognitive abilities, or could a person come in and access your services that would benefit them before issues start to arise? Say, you know, they have a family history and they suspect that that might be an issue in the future, and they want to be proactive about it.

Dr. Sorweid: I've certainly seen patients and families who have a strong family history of dementia or who have some mild symptoms that they've noticed, and perhaps all of their screening turned out to be more of a baseline or normal, and so that is an option. I think, traditionally, that's not typically who we see in our clinic. It's mostly patients who have had some symptoms even though they may be mild. But the key thing that I would focus on with regards to a healthy aging brain is that a lot of these interventions really play a role even in midlife. So we know now that there's data that shows controlling blood pressure, even to possibly a more aggressive level, can actually help prevent mild cognitive impairment or mild memory changes.

Interviewer: When you start to recognize cognitive decline, at what point should you really consider coming into the Aging Brain Care Program? At first outset? Because, I mean, some of us can feel really weird, you know, if it's just one thing or a couple of things. How do you help a patient navigate that thought process?

Dr. Sorweid: I would really encourage at the very onset of any symptoms to seek help. Worst case scenario, you're seeking help earlier than what is needed, and, I mean, that's a good thing. Then we have a baseline. And really seeking help early, again, just kind of focusing on those interventions that we know are helpful can really make a difference in someone's quality of life, whether or not they are aware of what's to come. You know, if a loved one is complaining of, "Hey, I misplaced my keys," or "I'm forgetting names more often," there's a chance that's due to normal aging, but there's also a chance that something else is going on, especially if it's a change for them.

Interviewer: Do you recommend that somebody go to their primary care physician first, or when they start recognizing these symptoms, is it just better to come to the Aging Brain Care Program first?

Dr. Sorweid: I think if someone has a really great relationship with their primary care provider, they know them well, they're already established with someone, that is a really great place to start. There's something called the Medicare Annual Wellness Visit, and that provides all primary care physicians the opportunity every year to screen for a lot of different conditions, including cognitive disorders. And so that's something I would encourage patients to ask their provider to use as far as a tool to screen them for any problems with memory and thinking. And then, yeah, so next step or if they feel that their primary care provider doesn't feel comfortable with any of those screening assessments, then, yes, we're happy to see them.

Interviewer: And we're really fortunate to live in the Salt Lake City area and have access to University of Utah Health and the Aging Brain Care Program. How can individuals who are not in the immediate area access this great resource?

Dr. Sorweid: One of the silver linings of the COVID pandemic is having access to telehealth, and so that's one opportunity that we have to offer visits for our patients who maybe are limited by distance or who have a difficult time physically getting to the clinic. It's not ideal because there's limitations with physical exam or if they have difficulty, as many of our older adult patients do, with a video exam. But generally speaking, they're with a loved one who can help with that, so that's one opportunity. And then just to keep in mind that many of these visits aren't super frequent. It's up to the patient to how often they come to see me or one of our other providers.

Interviewer: Yeah. And a combination of perhaps those ways of visiting might work out too, I'd imagine. Maybe the initial visit is in-person because, you know, you can facilitate more of the types of physical examinations that you need to do, and then more of the follow-up visits could be virtual. Dr. Sorweid, if patients are in the Salt Lake area, where are you located, and what is the best way to reach you?

Dr. Sorweid: Located on the main University of Utah Hospital and Clinics campus, just at the corner of Mario Capecchi and Foothill, 555 Foothill Drive. And our clinic phone number is 801-581-2628. Just asking for a referral from your primary care provider would be appropriate, but we also take self-referrals.

Interviewer: If you or a loved one would like more information about the University of Utah Health Aging Brain Care Program, you can find a link to their website included in the description of this podcast.

Interviewer: So you or a loved one have opted to have endoscopic spinal surgery rather than one of the more traditional methods. What can you expect on the day of the procedure and afterwards?

We're here with Dr. Mark Mahan. He's an associate professor of neurosurgery at the University of Utah Health. Now, Dr. Mahan, when it comes to endoscopic spinal surgery, what can someone expect, you know, leading up to the procedure, the day after? Where do they start? And what should they be expecting?

Dr. Mahan: The wonderful thing about endoscopic spine surgery is that in, I would say, 99% of the cases, it's outpatient surgery. So that is a little bit of a reframing of what an individual will be expecting, because it's not a traditional come to the hospital, stay there for several days, eat wonderful hospital food, stay in wonderful hospital beds. This is something that you would anticipate going to one of our outpatient locations. A patient would expect to arrive that day. Typical requirements are for, you know, for any surgery are, you know, no eating from the night before, coming in, unfortunately, you know, sort of extra early because we all like to end our days early, and so we try to get started early.

And then you would expect that you're going to be meeting a whole host of new individuals that are going to come in and take care of you. And meaning that we're going to have nurses and others that will come in and check-in and make sure that you're ready. We'll go through a surgical consent. That's an important part for me personally because I want to make sure that everybody understands, ahead of time, both what the surgery entails, what the risks are, what your expectations will be both in recovery as well as long term. And so that we all can meet in a common understanding about what our goals are and what you'd be facing. And then through also about, you know, how to best optimize your recovery long term.

And then after surgery, obviously, these are generally performed under general anesthesia, which is the type of anesthesia where you would have a breathing tube. And so waking up, coming around is usually a time when most people don't remember, fortunately, and then just recovery, make sure that you've, you know, that you're ready to go, you're steady on your feet, that you're eating, you're feeling well, and then we get you back to your car and you can go home.

Interviewer: So how long are you actually in the operating room for a procedure like this?

Dr. Mahan: Typically, it really depends on what the problem is we're seeking to treat. Some of the disc surgeries go really, really quick, like on the order of about half an hour.

Interviewer: Oh, wow.

Dr. Mahan: Now some of the more complex narrowing can be two hours. It really truly depends on what the work that needs to be done.

Interviewer: Now, after the patient is home, what can they expect? We're dealing with pain control, recovery. How long until they're back on their feet, etc.?

Dr. Mahan: Yeah, now, pain control is a particular focus of mine because I really want every individual to really have that smooth glide path because, you know, even though that the endoscopic technique is meant to minimize tissue trauma, it is still a spine surgery. It is still the goal of removing something from your spine. I don't want to make that sound scary, but I don't want to make other people feel like, oh, it's a magical procedure, right? It's not. There's a reality here that we're removing something that's pressing on the nerves and causing pain and discomfort.

And so that you would expect to have some irritation or some discomfort from having something removed from your spine. And so what I do is I do everything I can to possibly minimize it. Number one, endoscopic techniques, minimal incisions, minimal approaches. Number two, often using a lot of numbing medication can really make the recovery much more straightforward. So we'll use a long-acting anesthetic into the muscles of the spine to make them comfortable and relaxed even before we even start doing surgery.

So the first step, block the muscles. Make it comfortable. It also leads to some numbness of the skin where the skin incision is so that that is not too much discomfort. But the block will wear off. So the things that we do is try to, obviously, avoid a lot of powerful pain medications because powerful pain medications can have their side effects and consequences. So we're using things like ice, heat, anti-inflammatories, and then we talk about milder pain medications so that you don't get into the complications associated with strong pain medications.

Interviewer: Now other than the pain management that happens afterwards, when they go home, are they up for a day or two? Are they on their back for a day or two? On their belly? Like, what are you having a patient do to heal up from a procedure like this?

Dr. Mahan: In the majority of the cases, you're doing exactly what you want to do.

Interviewer: Oh wow.

Dr. Mahan: Yeah, the limitations really come down to if somebody has had a disc herniation, we want to minimize the risk of re-herniation, meaning that another part of the disc fractures out and presses against the nerve roots, which can occur. Other than the disc herniations, I want the individual doing as much as they feel comfortable doing. Oftentimes that sometimes means tempering people. I had one patient the day after surgery he asked if he could go on a snow bike up the mountain. And I was like, it was one of those moments where you have that sort of, you know, common sense questions, like, well, just tell me what would happen if you got halfway up there and you had a back spasm? You had difficulty coming back?

Interviewer: Right?

Dr. Mahan: And, you know, he's like, well, maybe that's not the greatest thing to do today. And you're, like, yeah, the day after surgery may not be the greatest day to go nuts. But people will be walking more. People will be doing more activities. And we want that. We want them to go back to the way that they will choose to live their life.

Interviewer: Now, it's impressive that they are kind of up the next day, or a day or two after their procedure. Maybe a little bit tempered from what they were normally doing. But, you know, not going back up and doing crazy mountain biking, or that snowmobile trip, like you mentioned. But how long until a patient is, you know, all the way healed and sees the most benefit from the procedure, and they're back to normal?

Dr. Mahan: That is an excellent question. And it really is patient-specific. So if somebody had a more profound nerve pressure or nerve injury, and it's been there for a long period of time, meaning that it's going to take longer for their recovery, right? So if you've had a problem that is minor in nature, and it's a short duration, your recovery is going to be quick. If you have a very profound problem that is of long duration, you know, there may be a new normal, even with spine surgery. We can't always erase everything that occurs in time, but you know, we're going to try.

Interviewer: Can you believe that there's a school actually called Headache School? And if you have headaches, you might want to go to this school. So we're going to talk to Dr. Jared Bartell. He's assistant professor in neurology. He's a doctor, but he's also an expert in headache. He did his fellowship in headache medicine, they call it and today we're going to find out more about the University of Utah Health Headache School, why you have one, what it is, and who can benefit. So Dr. Bartell, thank you for being on the show today. I do appreciate it very much.

Dr. Bartell: Thanks, Scot. Happy to be here.

Interviewer: Yeah. So tell me a little bit briefly, I just I'm curious. So headache medicine is what it's called, that you do. Explain the additional training you've had and what that means?

Dr. Bartell: Yeah. So I finished my neurology residency at the University of Wisconsin. And in neurology, you learn about all aspects of epilepsy, multiple sclerosis, stroke, various things that affect the central nervous system and the peripheral nerves too. But headache is certainly within that and we learn a lot about headache in residency. For those people that want to do more outpatient neurology, headache is really a big part of that.

So I spent this last year doing headache fellowship at University of Utah training with the guys there at the university. I learned about various procedures to use for headache, things like Botox, nerve blocks, the different types of medicines that you can use, both for prevention and for rescue of headaches. The nice thing about headache medicine these days is that there really are a lot of new treatments available within the last even couple of years there have been a number of new medicines that are all fairly expensive right now. Insurance tends to pay for them as long as you've tried a few other medicines first, but it's definitely an exciting time to be in the field as a provider of headache medicine, and it's been a great opportunity for me to help patients as well.

Interviewer: Yeah. That's pretty cool. I know headaches can really be debilitating to some people. It can really just really affect the quality of their life, their ability to enjoy life, their ability to do what they have to do. Headache School. So what is Headache School?

Dr. Bartell: So Headache School is a program that we are offering at the University of Utah, and in collaboration with Danielle Henry Foundation to educate patients and their loved ones about headache in terms of treatment and what causes them and just every aspect of headache.

Interviewer: And it's virtual and online, and you can find back episodes on YouTube. So there are a lot of different kinds of headaches. Why would somebody with a headache want to come to the Headache School or watch some of these videos? Why wouldn't they just say, "Just give me some aspirin. Tell me what it is I need to do to solve my headache"? Why are you finding people who are finding this interesting, and coming and showing up?

Dr. Bartell: So they're really a lot of headaches that . . . So you can think about just little everyday headaches that most people get as being responsive to an over-the-counter medicine like aspirin or ibuprofen or Tylenol. But unfortunately, a lot of people have much more severe headaches that really don't respond to those types of medicines. And that actually can get worse with chronic use of things like aspirin or Tylenol. And it can actually cause something called a rebound headache or a medication overuse headache. For people that have chronic migraine or chronic tension type headache or various other types of even more unusual headaches, those types of over-the-counter medicines aren't as helpful. And so educating patients on the different types of treatments, whether that's medicines or non-medication therapies can be really helpful in treating their headache condition overall.

Interviewer: Talked to one of your colleagues, Dr. Pippitt, and she is an expert with headaches as well. And she says that for the most part, a primary care physician can take care of most people's headaches. So it sounds like Headache School is for somebody who has really struggled and hasn't found that answer to their headache because they do have more of an unusual headache and this gives them access to some experts that might just specialize in that particular type of headache. Is that correct?

Dr. Bartell: Yeah. I think so. I think that's a good way of thinking about it. Most primary care providers are excellent in treating headaches. Sometimes it takes 2, 3, 4, or 5, 10 medicines until you really find the right medication fit for that person's headache. Everybody's headaches are a little bit different. Even if you have migraine, for instance, you can have 10 migraine patients lined up and all of their headaches are a little bit different. And the physiology of their migraine can all be a little bit different such that different medicines work for some people and not for others.

Interviewer: So somebody that might have gone through the process of trying to find some satisfaction or some treatment for their headache really could benefit from Headache School. I'm looking at, man, you've got so many episodes already. Just to cover some of them, the cognitive behavioral therapy treatment for headaches, yoga, for headache and migraine, contraception options in migraine, headache, the basics, acupuncture self-care for a headache, pathophysiology of migraine. Sounds like you cover a lot of ground. And what benefit does this help with somebody then if they hear the lecture? What does that information usually do? How does that impact somebody?

Dr. Bartell: So, in Headache School, we have the benefit of having a number of different speakers coming from different backgrounds talking about their view of what headaches are, how to treat them, we have a pharmacist that has given us several talks, we have multiple different providers that treat patients clinically that have their own medical background to provide. You could do a bunch of your own personal research online, which you might find various blogs and find anecdotal ideas as to what to do and what your headaches are caused by and different things you can try. But really looping into how doctors think about your headaches and how a pharmacist might think and how a psychologist might think about headaches can really be helpful in better managing your headaches.

There have been many years, decades and decades of research into headaches and it's not all intuitive. So you might think that you can treat all of your headaches with Tylenol, you take Tylenol three times a day. And this seems to knock down your headache just a little bit. But as it turns out, somewhat counter-intuitively, that can worsen your headaches. It can cause rebound headaches, it can cause some other problems, it can cause liver problems. Different medicines can do things like that, but it's really helpful just to touch base with the headache medical establishment to know what Western medicine thinks about headaches. We do try to incorporate alternative ideas too, and there are many talks on not just true Western medications and that type of thing, but also these alternative therapies that are available.

Interviewer: I love that you have all sorts of experts. I never really thought of that as an advantage, I just thought, "Well, you go to a doctor." Maybe you go to a doctor who's an expert with headache. But as you said, you've got pharmacists, you've got people like psychiatrists or people that can help teach you a cognitive behavioral therapy, or you have people that know about how exercise impacts headaches. So just a lot of different opinions on how to maybe reduce the impact of your headache or the frequency of your headache. So that's pretty awesome.

It's also pretty awesome too because many people they don't live in Salt Lake City, they don't have access to one of these specialists. They can just make an appointment, but they can go to the Headache School and they can watch the lectures and it sounds like they can interact with that individual. At the end, it's not recorded, they could ask them questions and boy, just really making yourself available.

Dr. Bartell: It's true. We see our clinic, especially now more than ever, patients from all across the region. We see people in Nevada and Wyoming, Montana, Colorado. And this resource especially it's on YouTube, so anyone can see it. You could live in a different country and you have all of the videos available for free at your own pace. One thing that you may not realize is that with YouTube videos, you can actually adjust the speed of them too.

Interviewer: Yeah. It gives you access to these experts. It gives you access to this great expert information. Briefly, I want to hit on the skill building session. So you say you have some skill building sessions. What do those look like on Headache School? I get a lecture, what's the skill building session?

Dr. Bartell: So we have a number of talks on various issues, things like progressive muscle relaxation, breathing exercise, guided relaxation. As of today, those are the most recent talks, but there are a number of courses that talk about these non-medicine options to treat headaches that you can just do on your own. You could do these multiple times a day, depending on what they are. And they can really help to have some synergy with the rest of the treatment that you're undergoing. It's one thing just to take a pill every day, but it's another thing to change your lifestyle in certain ways to really help to solidify the changes that your brain is undergoing as you're treating these headaches.

Interviewer: Headache school, it sounds like such a great resource and we will put a link to the University of Utah Health Headache School in the description for this particular podcast episode. Dr. Bartell, thank you very much for telling us a little bit more about Headache School. It's a great resource. Appreciate it.

Dr. Bartell: Thanks, Scot. Happy to be here. Appreciate it.

Interviewer: Someone's diagnosed with epilepsy, given medication for the seizures, and a year later still experiencing seizures. At what point do you go see a specialist?

Dr. Sindhu Richards is an expert in medically refractory epilepsy. Dr. Richards, when would somebody come and see you?

Dr. Richards: So we definitely say a year should be the general guidelines, but we try to be a little more proactive than that even. So, right now, the American Academy of Neurology has set out like a guideline saying that if a patient with epilepsy has been seen by the primary care provider and it's been three months where they're unable to treat the seizures effectively, they should be referred to some sort of neurologist, a general neurologist or an epilepsy specialist. And then, if a patient is seeing a general neurologist for a year with untreated seizures, those people should definitely be referred to an epilepsy center.

Interviewer: And after you reach that year, it's really not something that you should put off if you're still having seizures without medication. What are some of the dangers of doing that?

Dr. Richards: In terms of the biggest concern we get about uncontrolled seizures is there's a phenomenon called SUDEP, which stands for sudden unexplained death in epilepsy. And we really don't know the clear mechanism. We just know that people who have uncontrolled seizures are at higher chance of that. So that's the scariest thing we worry about for people who have uncontrolled seizures.

And then, in terms of like other complications, so people, you know, having ongoing seizures can really affect daily life. So when you're having seizures, you're unable to drive. You can't operate heavy machinery or be on heights. So it depends on your work situation as well. But the biggest one that impacts people is the driving aspect. So it can really affect your quality of life in that sense.

And then, also depending on where the seizures are coming from, most people kind of developed some memory problems in terms of ongoing seizure activity. So that's a common complication we see that we try to avoid, if we can treat them early.

Interviewer: At this point, they walk into your office. Walk me through the diagnosis process that you use to get to a diagnosis of medically refractory epilepsy. And from what I understand, one of the first things you might look at is, "Was the initial diagnosis of epilepsy correct?" Because I guess it's like 13% to 15% of people that are diagnosed with epilepsy actually have something else.

Dr. Richards: Yeah, exactly. So that's a really important step to clarify too. And one of the ways we do that is, obviously, getting a very good history in terms of what exactly they're doing from the patient. But also a really important aspect is getting a history from the bystanders because they're the ones that are seeing what the patient's actually doing.

A very common diagnosis that epilepsy can be confused with is what we call psychogenic non-epileptic spells. So some people, due to like stress or anxiety, their body can react in a way where it looks like they're having a seizure when actually they're not. Like, we look at the brain activity, it's actually completely normal during that time. So if we're uncertain about the diagnosis, that's definitely the first step to try to confirm that. And one of the ways we typically do that, that is available at epilepsy centers, is that we bring people into the hospital and monitor them on the EEG, which is the brainwave study. And we try to capture their typical episodes so that we can see exactly what's going on in the brain. And if they do have epilepsy, it helps us see where it is coming from in the brain. So that's usually the first step we do to kind of clarify the diagnosis.

And then, after that, in order to be diagnosed with medically refractory epilepsy, you have had to have an adequate trial of two anti-epileptic drugs and are continuing to have seizures. So in terms of what we mean by adequate trials is a lot of people stop medications because they have side effects from them, and so that wouldn't mean an adequate trial. So if you stop a medication because of side effects and you're still having seizures, you still have to have a good trial of two drugs before you can be considered medically refractory epilepsy.

Interviewer: So, at this point, if you do then come to the diagnosis that it is medically refractory epilepsy, what are the steps at that point?

Dr. Richards: When you see a patient who's diagnosed with epilepsy and you start a new medication, so an anti-epileptic drug, about 50% of patients will become seizure-free on that. So that's a really good amount of people who will be seizure-free. Once you get to the second drug, an additional 13% will be seizure-free.

So then you're kind of left in this third category of patients who are not seizure-free on medications. And you usually tend to try different trials, but they continue to have seizures. So it's that third of patients who are diagnosed with epilepsy that are considered the medically refractory.

And so, you know, like I said, the main concern for these people are the long-term side effects of having seizures, the risk of sudden death. So we really try to offer other options. And one of the biggest options we have to offer is surgery. And so there's a lot of workup to be done before we consider surgery because, you know, that is a very big step and it's a big deal for us and for patients too to go through potential brain surgery.

So the very first step, in terms of treatment of medically refractory epilepsy, is bringing someone into the hospital where we try to capture their seizures. Because, in order to see what surgical options a patient has, we need to know where the seizures are likely coming from. And so what we'll do is we'll bring the patient in, we'll stop all of their anti-epileptic drugs because we want them to have a seizure when they're in the hospital. And then, once we've gotten about two to three seizures and they're reliably from the same location or let's say they show us that the patient has seizures coming from several different locations, we'll know what the next step could be. So that would be the very first step.

And then, after that, we typically try to do some non-invasive evaluations to help us pinpoint even more where the seizures are coming from. So this includes different type of imaging. So patients will definitely get an MRI because we try to see if there's a reason or a lesion or a structural cause as to why they are having seizures.

And then we'll also do some more advanced imaging. So we'll do what we call a PET scan, which is a nuclear scan. So we inject dye and we look at the areas of activity in the brain. And usually, in patients with seizure, the activity of the brain is decreased in their seizure focus. So that helps us kind of guide us towards where we think the seizures are coming from as well.

And then we'll typically send them to a neuropsychologist. And the neuropsychologist will look at their memory, their language, and other important functions of the brain so we can figure out where these important functions are and to make sure that they aren't affected when we consider surgery.

And then, lastly, to kind of do that as well, we do what we call functional MRI, where we ask them to do some different language tasks and some different motor tasks because then we can see exactly where in the brain it lights up and we know where those tests are coming from so we avoid those areas in surgery as well. So there's quite an extensive workup to do before you even consider the surgical options for a patient.

Interviewer: And after you do all of these tests, you have a much better idea then of what you're dealing with, where the surgery needs to focus on. At that point, is the type of surgery that the patient will get really based on what those tests indicated, or are there some choices the patient will have to make in surgical procedures?

Dr. Richards: Yeah. So there are definitely choices that we can make, whether like how invasive the patient is willing to go versus like if they want to be a little more conservative, because we have options where we can actually take out the brain. But we also have a lot of neuromodulation, which are devices which wouldn't require any major, you know, removing of the skull in terms of brain surgery and things like that. So it's a ongoing discussion with the patient about what we think would be the benefits versus risks and what they feel like would be an acceptable surgery and things like that.

So after those initial testings are done, we'll typically put EEG electrodes directly into the brain. So it's a minor surgery, where we drill a hole in the skull and we put electrodes right into the brain. And so that gives us an even more precise localization of where the seizures are coming from. So that's typically a step we will do even before we consider surgery.

Interviewer: And you mentioned some of these outcomes are like a 50% reduction. Generally, what is the reduction in seizures that a surgical procedure can offer? And then, you know, if there still are seizures, how are those addressed going forward in the future if, you know, an individual is resistant to medication, is not able to control it with medications?

Dr. Richards: Yeah. So this is why we like to get to people early because the data has shown . . . so let's say you have a patient with medically refractory epilepsy and you continue to try to treat them with different medicines. Only about 8% of those people will become seizure-free. Versus with surgery, about like 65% may become seizure-free. So that's a great difference in terms of seizure freedom. And you can even imagine, if people don't become seizure-free, they'll at least have a significant seizure reduction.

So the big thing to know is that people who go through epilepsy surgery, it's not an alternative for medicines. So these people will, generally, remain on medicines to make sure that we control the seizures. It just means that they might be on less medicine, which is great because medicines can cause side effects, it might not need as much. So that's an important thing to clarify for people because people think they can just get surgery and come off everything. But we do have to keep people on medicines to give them the highest chance of seizure freedom.

Interviewer: And I'd imagine it varies from all the different types of surgeries because, you know, you mentioned some actually require the skull to be open, which I even have a hard time even saying. That sounds a little scary. And then there's some of the more non-invasive procedures. What type of recovery could a patient look at after receiving surgery?

Dr. Richards: Yeah. So for the invasive ones, where you have like either . . . the invasive one is really like the lobectomy. And for that one, I would say, you know, in terms of like people who are in the hospital, they're only in the hospital for a few days, but usually it takes like about a month, I'd say, to fully recover from that surgery. In terms of for the neuromodulation procedures, the patients usually go home the next day and there really isn't that much of a significant recovery, people do really well.

Interviewer: I don't know if a question is going to come out of this or not, but listening to you talk about just the process of diagnosis and then the process of treatment, just how incredible is all of it that we can do any of it, right? That you have the equipment and the expertise and the training to be able to go in and pinpoint where this problem might be in the brain and then be able to go in and do something about that. I mean does that resonate with you on any level whatsoever or is it just something you do at this point?

Dr. Richards: Yeah. So that's why I fell in love with epilepsy. You know, going through neurology residency, we do deal with a lot of different devastating conditions. But for epilepsy, I really felt like there was something we could do and something we could offer. And the surgical options for epilepsy is really what brought me into this field because I felt that it was just amazing that what we could do and the different devices, and I think we're continuing to kind of develop more and more things that are going to be on the horizon. Like, 10 years ago, it wouldn't have been an option for this patient to have gotten that surgery and she still would have been having seizures. So I'm continuing to be hopeful that, down the line, we're going to have a lot more options, especially for our generalized patients because these people don't have a lot of surgical options at this point.

Dr. Clardy: Hi, I'm Stacey Clardy, Associate Professor of Neurology at the University of Utah. I'm excited today to talk with Stefan Pulst for our series on where cures for brain diseases begin.

Stefan is the Chair of Neurology here at the University of Utah and has accomplished a tremendous amount in that role. But today I want to focus our discussion on his role as a very successful researcher in neurodegenerative diseases.

Specifically, Stefan, you are quite well known internationally for your work on a group of conditions called spinocerebellar ataxias. How did you find yourself focusing on this group of diseases? They are rare diseases. Did you seek out that area based on a lecture you heard early in your career or a patient you had seen? Was there some sort of existing project? How did you settle on the spinocerebellar ataxias for your particular research questions?

Dr. Pulst: Well, it was a typical L.A. story. I was Chair of Neurology at Cedars-Sinai at that time, and I got a phone call, a phone call from a colleague at UCLA, who recalled that, as a resident at Columbia University, he had seen a family that had a very unique distribution of age of onset of a particular neurodegenerative disease. It appeared to happen earlier and earlier in each subsequent generation.

And it's hard to believe today, but in the late '80s, I was one of the few neurology geneticists in Los Angeles. So that's why he called me. And I said to him, "I've never seen a genetic disease that I don't like," and we decided to fly out to New York State and examine that family, obtain DNA samples. And then my search began to find the actual mutated gene that caused this disease that we now call SCA2 or spinocerebellar ataxia type 2.

Dr. Clardy: And this is sort of unique and really, I think, drives home the point of the value of a clinician scientist, right, because you're both a scientist but also were able to come see the patients. You're a physician. You're able to examine them and get a sense of what was different about this, highlighting, I think, what's unique about academic medicine is that you serve in both those roles. And, of course, that was pre-Zoom era, so you had to fly out there.

Dr. Pulst: We had to fly out there. And we learned a lot from the patients. Part of cerebellar disease is that you are uncoordinated in your gait. And so one of our measures was to ask people to basically walk a line, like a police officer would do when they pull you over. And we had one young woman who we asked to come back and do the test again. And she was very concerned that she might actually have inherited the disease. And we later found out that she did. She was just a bit clumsier than some of her other family members. So when one learns a lot, and I think that, you know, I've been in this business now for 40 years, what I enjoy about it, going back and forth between lab and the patient and then back from the patient back to the lab, asking the questions.

Dr. Clardy: And you just hinted at what I was going to ask you next, which is how long have you been studying this condition? I think we somehow read a news release about an exciting research finding and we think that it happened in the last six months. So tell us when you started. How long has it really been?

Dr. Pulst: So we flew out to Syracuse, New York, in the late '80s and collected DNA samples. And then, for the next six years, we tried to identify this gene. And although this can be much faster today, this was a time where the genome was not mapped. We made different kinds of maps, maps based on distance and on location. And finally, in March 1996, we identified the disease gene that is now called ATXN2. All the ataxia-causing genes have numbers now. And we found out that it was a very unusual mutation, actually a mutation that was dynamic. It did not remain stable, and in the end that explained this phenomenon of having earlier and earlier disease onset in subsequent generations.

Dr. Clardy: And so what I heard you say was it took a long time to find the mutation. So what have you been doing on that mutation in that ensuing 25 years? Right? You get to discover what the problem is, and then what's next?

Dr. Pulst: Yes, and quite right. We thought climbing the Everest was finding the gene. That there was a lot of glory to be had to find the gene, and then somehow the therapy would just fall into our lab. And now we just know that we were in the hills leading up to Everest. Everest was really finding therapies. And for really a decade, maybe even two decades we and others spent our time trying to understand what this disease gene actually normally does, assuming that, when it's mutated, it has something like a deranged normal function.

And really, for me, the change came with moving to Utah in 2007. We decided to completely refocus and target the mutated gene itself. After all, that's the first cause, the primary reason why patients develop this particular disease, a DNA change happens. And we thought, if we can somehow quiet this disease gene down, then we would have a path forward. And that's what we have been doing since 2007. And you're quite right, that is still 13 or 14 years ago, and it has taken us that long to develop a gene-directed therapy.

Dr. Clardy: Wow, that's incredible. And I want to back up a little bit before we get to talking about the therapy that you're working on. The mutation you found, tell us more about this class of conditions, the spinocerebellar ataxias. What do all the patients look like? Are they similar? Are they different? How many different types are there?

Dr. Pulst: Yes. So the patients with ataxia share a certain presentation. Most of them present with gait instability that then progresses to affecting their speech, their reaching movements, their stance, their eye movements, and sometimes also their thinking. So these are really neurodegenerative diseases. They share some features with other diseases, such as Huntington's disease, but also with diseases like Lou Gehrig's disease or motor neurone disease. So they really fall into the larger group of neurodegenerative diseases.

We have about 50 SCAs, spinocerebellar ataxia, so at least 50 genes or gene locations that cause dominantly-inherited ataxias. These diseases are called polyglutamine diseases because a repeat that normally codes for the amino acid glutamine, it now expands and causes very large stretches of glutamine that misshape the protein, misform it. It tends to aggregate and cause disease.

Dr. Clardy: So unlike some other neurologic diseases that are caused by, say, missing a piece of a chromosome or a deletion, in these spinocerebellar ataxias, most of them, it's really all the DNA is there, but there's extra and it's repeated. Is that right?

Dr. Pulst: That is correct. It's repeated and it's repeated in a part of the gene that directly codes for a protein, so it has a direct effect on the way this protein is formed, the way it behaves. And as we now know, these repeat expansions cause the proteins to aggregate and really cause havoc in the cell.

Dr. Clardy: And I think what you're not saying is that a lot of this was not known. And certainly 50 different types were not known when you started this area of research. And you're saying that family had SCA number what?

Dr. Pulst: Number 2.

Dr. Clardy: Wow, so early on.

Dr. Pulst: Yeah, actually, in Utah, we are working on finding the mutation for a disease that is very common in Utah. It's called SCA4. So it was mapped to a chromosome a long time ago, but it has been very difficult to find the actual mutation causing that disease.

Dr. Clardy: So SCA4, the fourth spinocerebellar ataxia to be discovered is actually common in Utah. I didn't know that. Can you tell me more?

Dr. Pulst: Yes. So this disease was originally described and mapped to chromosome 16 by a former faculty member here at the University of Utah, Dr. Kevin Flanigan. And when we came, we took this off and we realized it is a family, a gigantic family, with more than 1,000 members actually. And we traced them back. The individuals were early pioneers. Actually we know that they were born in the 19th century, came from Scandinavia to Utah. And it's a disease with late onset, so people have a normal number of children. And we have now mapped the disease more precisely to chromosome 16.

What we have also found out, that other families, that we became aware of, there's a smaller family in the U.S. state of Georgia, and we were able to map them genetically but also by family records back to southern Sweden. And we actually found out that the family in Georgia and the family here in Utah come from two villages in southern Sweden that are about 10 miles apart. And there appears to be even a link between them, a man who was an oiler, he oiled machines and he may have had relationships in these two villages.

Again, it's a neurodegenerative disease that affects mainly the cerebellum, so patients have uncoordinated gait. But, interestingly, it has other effects as well. They develop a very significant sensory neuropathy. So what that means is they cannot quite sense where their toes and ankle and their fingers are. So they really have to deal with double damage. Both the feedback from the joints is not correct, and then the part of the brain that should coordinate all this information, the cerebellum is also defective. We are now pretty certain that it's not a simple mutation. It is likely a complex rearrangement on chromosome 16 that has made it difficult to pinpoint down what the precise mutation is.

Dr. Clardy: Wow. So just one of the other . . . I know we only touched on a couple areas of research in your lab, but this is obviously another one. And I love so much of what was in that story. One, the power of genetics, that we can trace back history now. But, two, I think you and I talk about this frequently, both being sort of transplants who came here to work at the University of Utah, but just the power of the recordkeeping and the ancestral records and the Utah population database, how the original settlers continue to give us information to push the science forward. It's such a fun part of working here in Utah.

Dr. Pulst: Yeah. And to give our listeners a bit of a visual image, usually, when you draw a family tree, a pedigree, you know, it fits on a sheet of paper quite easily. In this SCA4 family, we have like a papyrus scroll because it is so enormous. And actually, when we unroll it, it goes across my office. It's quite remarkable. And it was really thanks to one particular patient who contacted family members and made this pedigree. And it extends from Idaho and Wyoming all the way to Arizona through Utah and to California.

Dr. Clardy: That's fantastic. And we have so many of those patients here who are really driving their own science. It's wonderful, right?

Dr. Pulst: Yes, it's great. And the family is very involved, and we owe it to them to find the genes. So we are trying to work as hard as we can on using some of the most modern gene-sequencing technologies. And at this point, as of today, we have not found the mutation. So we still need to examine more patients and hopefully narrow also the location on chromosome 16 even further.

Dr. Clardy: Wow. So a lot of areas of research going on in your lab. I want to switch back a little bit though. You started to allude to this. Your lab has developed what's called an antisense oligonucleotide as a therapy, potentially, for one of these types of spinocerebellar ataxia. And, as I understand it, this has actually also led into a potential treatment for Lou Gehrig's disease or amyotrophic lateral sclerosis. But can you tell us what is an antisense oligonucleotide and how might it work in this disease?

Dr. Pulst: So this goes back to the refocus on targeting the actual cause of the disease, the primary cause. And that's the faulty gene that then leads to a faulty molecule that we call "messenger RNA." It's a molecule that takes the message of how to make proteins from the nucleus into the cell body, into the cytoplasm, and then specifies how a protein is made.

So, as I said, there's an expansion of a DNA repeat, which means the mRNA, the messenger RNA is expanded and the protein has an expanded polyglutamine domain. So we thought, "Why don't we try to attack the faulty messenger RNA and make a molecule that is complementary to this messenger RNA, it binds to it?" And then, what the cell does is actually, when it sees a new molecule made out of a messenger RNA and a piece of DNA, it actually targets this new artificial molecule and destroys it. And that's really the basis of these antisense oligonucleotides. They're called antisense because they are complementary antisense to the messenger RNA. And the oligonucleotide just means they have between 18 and 22 base pairs, so they're much shorter than a long messenger RNA.

And then, when this happens, an enzyme comes in, chops up the messenger RNA, so it's not present anymore. The antisense oligonucleotide is released and can undergo another round of binding to messenger RNA. So, with modifications, these new molecules are very stable and can be effective for therapy.

Dr. Clardy: And if I'm understanding what you're explaining correctly about this mRNA approach, this could really potentially be used in people who are known to have inherited the mutation but aren't yet having symptoms. Is that right?

Dr. Pulst: Yes. Yes, that's actually our hope for genetic disease to target diseases as early as we can. It just makes the point for our listeners that it's important to ask your neurologist to really get to the basis of a disease, to get to the correct name of the disease. And sometimes that means being referred to a specialist who really lives with these diseases and knows a lot about them.

Dr. Clardy: You make a really great point there, which is it's one thing to treat the symptoms, but perhaps the strength of the University of Utah or other academic medical centers too is that while we're treating the symptoms, while we're addressing where the patient's at, we also want to know what caused it in the first place. And your lab is, obviously, one of the extreme examples of that where you've actually found the mutation. So what phase of trial or study is this antisense oligonucleotide in right now?

Dr. Pulst: Okay, let me step one step back because it's important to realize, when I said that these ataxia sometimes are really neurodegenerative diseases that affect other nerve cells as well, and we recognized, just by seeing patients, that some of them had characteristics of Lou Gehrig's disease or amyotrophic lateral sclerosis. So, clinically, we saw that there appeared to be a connection between SCA2 and ALS. A colleague and friend of mine at Stanford, Dr. Gitler, then discovered molecularly a link between SCA2 and ALS.

So when we drove the development of this antisense oligonucleotide to ATXN2 forward, we partnered with a pharmaceutical company called Ionis and developed this initially in mouse models of ataxia but also in mouse models of ALS. And this molecule, the best one we identified in mouse studies and in studies in non-human primates, has now gone into a Phase I trial in ALS patients. And the reason it's in ALS patients, this is a more dramatic disease, very often, unfortunately, leading to death in three to five years, in some patients even earlier. And there are more ALS patients than SCA2 patients. So the dose finding study, knowing how much of this ASO to inject, is done in ALS patients. And a few patients have been injected so far with this new compound.

Dr. Clardy: It is very exciting, and it is really . . . you know, the neurodegenerative diseases are sort of the last frontier in neurology, right? They have, historically, hit a wall when it came to trials. And it sounds like your work and obviously the work done in other conditions and using antisense oligonucleotides is really the most exciting thing to come around in our entire generation.

Dr. Pulst: I agree. I think it's remarkable that really this dream of finding the genetic causes of disease actually now is leading to therapy. And I think another point is that even if you work on rare diseases or very rare diseases, if you pursue it, you may obtain insights into more common neurodegenerative diseases, as this connection between ALS and spinocerebellar ataxia type 2 shows.

Dr. Clardy: Well, I know certainly when I see patients in our shared clinics who have a neurodegenerative disease, I really love telling them that, just down the hall, you're doing work on this and you're making progress. But I want to know what advice do you have for patients who are diagnosed with neurodegenerative diseases?

Dr. Pulst: I think the first line of advice is try to really find out what your neurodegenerative disease is. Does it have a name? Does it have a genetic cause? And that often requires to go to specialists or sometimes, as I call them, sub-specialists or sub-sub-specialists who really know about the disease. It is still true that there are actually very few ataxia specialists in the nation. And patients fly to Utah as they do to other ataxia centers to find the right diagnosis.

Genetic testing these days is less expensive than getting an imaging study. And insurance companies are slowly learning that it's the right way to go and to support these tests.

The other general piece of advice is be part of clinical trials. I think we know that patients do better when they're in clinical trials, even if they just "get the placebo." So you get to see specialists. You get followed up. People take great care of you. So I think that's the other one.

Dr. Clardy: Well, thank you, Stefan. Again, I've been speaking with Stefan Pulst, our Chair of Neurology here at the University of Utah, on his groundbreaking work on spinocerebellar ataxia and the possible translation over to amyotrophic lateral sclerosis as well. To learn more about his research, to support the lab, or any of the many, many research projects and labs here at the University of Utah, you can just go ahead and google "University of Utah neurology" where you'll find links about all of the ongoing departmental activities and information on how you can become involved.

This content was originally created for audio. Some elements such as tone, sound effects, and music can be hard to translate to text. As such, the following is a summary of the episode and has been edited for clarity. For the full experience, we encourage you to subscribe and listen— it's more fun that way.

Who Cares About Men’s Health listener Ryan is an educator in Salt Lake. He’s in his mid-forties and in pretty good health. He’s not the typical stroke patient, by any means, but he was surprised to find himself in the hospital undergoing surgery to save his life. The fascinating thing about Ryan’s experience, his stroke symptoms manifested in a very strange way.

A week or so prior to the event, Ryan had been experiencing an earache that just wouldn’t go away. He had gone to his primary care doctor to try and figure out what was causing the earache. No matter what they tried the pain in his ear wouldn’t go away. Ryan had just seen his doctor for a followup visit just two days before he had his stroke.

The symptoms became worse after his anniversary dinner with his wife. Ryan left the restaurant feeling nauseous and dizzy. He rationalized that the symptoms were nothing more than indigestion or a bout of food poisoning.

The next day Ryan’s symptoms only became worse. He woke up feeling really sick. His nausea was so bad he couldn’t keep food or water down. He was extremely dizzy and couldn’t stay standing for long bouts of time.

But he was also starting to experience symptoms that are not common of a stomach bug. He started experiencing severe vertigo and double vision that wouldn’t seem to go away. When he tried to walk it was as if he “had a flat tire on his left side.” He would continually tilt to the left. His balance was extremely off.

After a full day of extreme symptoms - and the urging of his wife - Ryan could no longer rationalize that his symptoms were nothing more than severe stomach flu or related to his earache. After a call to his primary care doctor, he went to the emergency room.

Once in the ER, the physicians did an MRI and found not only a serious aneurysm on the lower back portion of Ryan’s brain but a pretty serious dissection as well.

Ryan spent 14 days in the hospital after surgery. It was a relatively long road to recovery and he still struggles with occasional vertigo. But according to Ryan, the stroke could have been a lot worse. He came away without any particularly debilitating cognitive issues.

Getting to the hospital on time saved his life and his brain. There are More Signs of Stroke Than Just FAST

Time is of the essence when it comes to a stroke. The sooner you can receive treatment, the more likely you are to minimize damage to the brain. As such, it’s important to know the signs of a stroke so you can respond quickly.

The Scope Radio has been talking about the acronym F.A.S.T. for years. It’s a helpful way to remind people of the major signs of a stroke:

• F - Facial Drooping
• A - Arm weakness
• S - Speech difficulties (including slurring, trouble finding words, confusion)
• T - Time is of the essence to get help

But Ryan’s symptoms didn’t fit the FAST acronym. He was experiencing dizziness, nausea, and having vision issues. There are several different ways a stroke can form and impact a person. Not all strokes are caused by deep vein thrombosis. Some can be caused by injury to the head directly. According to Troy, he will often see these injury-related strokes in young people. They will experience trauma from whiplash injuries, sports injuries, falling while skiing or snowboarding, etc.

While we don’t often think of this type of stroke, they can be quite serious. As such, there are additional symptoms you should be on the lookout for beside face drooping, arm weakness, and slurred speech. These include?

• Leg weakness
• Balance Issues
• Vertigo
• Double Vision
• Other vision issues
• Trouble walking
• Severe Headache

If you have a suspicion that you or someone you know may be suffering from a stroke, don’t wait to see if the symptoms will go away. Get to the ER immediately. Call 911 and get an ambulance if you need to. Time is crucial for stroke treatment, so don’t delay. You Should Probably Read that Genetics Test Terms of Service

We’ve all been guilty of quickly scrolling through one of those long irritating user agreements you are forced to scroll through when you install a piece of software on your computer. But when it comes to the Terms of Service Agreement you sign when you take an at-home genetics test, it may be worth taking the time to actually read it.

Scot is still considering whether or not he wants to take a genetics test, so he and the Who Cares guys read through the Terms of Service from one of these testing companies. He found some of the strange, concerning, and occasionally downright terrifying implications that are inside the fine print.

They include concerns about what you may learn about yourself, your identity, the health issues you may face, as well as the legal ramifications you should consider before taking a test.

The guys discuss their thoughts and feelings on the issue. And if you’re still interested in entering to win the genetics test, be sure to enter. Housekeeping - Welcome to the Community

We want to take a moment to welcome all of our new podcast listeners and people who have joined the movement on our Facebook page. We’ve seen a significant increase in both the likes on our Facebook page and listeners of the podcast.

We’re quite excited to have more people joining us on our mission to get men caring about their health. Stay tuned on our social channels. There will be much more community involvement with the show moving forward. Help us come up with ideas and participate in future shows.

If you haven’t liked our Facebook yet, be sure to join. Just Going to Leave This Here

On this episode's Just Going to Leave This Here, Scot learns a new trick to improve his bathroom habits. In other news, Troy enjoyed the Sundance film festival and gives a recommendation for the film Boys State. Talk to Us

If you have any questions, comments, or thoughts, email us at hello@thescoperadio.com.

Interviewer: Do you suffer from restless legs or you think you might? Well, we're going to talk about that next on The Scope.

Dr. Chris Jones is a neurologist and a sleep and movement disorders expert. And today, we want to dive into the topic of restless leg syndrome. Dr. Jones, let's start off first of all, what is restless leg syndrome?

Dr. Jones: Nobody really knows.

Interviewer: Oh, that's going to make a tough conversation today.

Dr. Jones: But every person with restless legs knows how bad it can be and that it's real even though there are no physical signs of illness.

Interviewer: Okay. So you could do all sorts of physical examinations and you wouldn't find anything with somebody reporting restless legs at night?

Dr. Jones: Exactly. It's easy for your doctor to overlook this.

Interviewer: Okay. So what do most patients report as the symptoms that you would define as restless leg syndrome?

Dr. Jones: An urge to move the legs particularly in the evening, usually it's below the knees. It's very difficult to describe what this is because it's not an itch, it's not a pain, a numbness, tingling or cramp. All I can tell you is it's very frustrating, and it gets worst in the evening, just when they want to fall asleep. There's a wide range of severity of restless legs symptoms and, to an extent, it may just be part of the human experience to have a little of this.

Interviewer: Yeah. If somebody does have it, what would they do about it?

Dr. Jones: First of all, they would find the nearest sleep center that advertises experience with restless legs syndrome, because it is very difficult to treat and very easy for the doctor to make it worse.

Interviewer: Okay. Is it usually one expert, or is it kind of a multidisciplinary team, an interdisciplinary team I should say?

Dr. Jones: It gets interdisciplinary when the restless legs facilitates the development of a chronic insomnia that's quite apart from the restless legs but instead is a learned inability to fall asleep at night.

Interviewer: So what could start out as just a physical sort of manifestation of the symptoms could then turn into a mental manifestation affecting your sleep?

Dr. Jones: Exactly.

Interviewer: And is that when most people tend to seek help when it's affecting their sleep, or should they come to you sooner than that?

Dr. Jones: Yes, they should come as soon as it's making an impact in their life, because the older you get the harder it is to treat.

Interviewer: Oh, okay. So when you first started noticing those symptoms you would find somebody, such as yourself, that is an expert in this sort of thing. And then what would that appointment look like? How do you track down a condition that is not easy to track down?

Dr. Jones: You should expect and request a thorough history rather than emphasizing the physical exam, that's number one. Number two, you should expect them to ask for a positive family history of leg problems at night. And if you're a female and there's any reason that you might be iron deficient, you need to have your iron status measured because low iron, even slightly low makes restless legs a lot worse. Iron deficiency is a major exacerbator of restless legs.

So if you are donating blood in any fashion to your hospital blood bank, to the fetus that's in your womb, to heavy menstrual bleeding, then you are at much higher risk of restless legs. And you may need your iron level bumped up, whatever it means, so the treatments can be a little more effective.

And then the physician should ask you what medications, including over-the-counter medications you take, because over-the-counter antihistamines and many antidepressants actually make restless legs worse. And, of course, restless legs tends to lower moods, so people tend to get on antidepressants, so we have a vicious circle there.

Interviewer: Is there a cure for restless legs syndrome, or can you just manage it as best you can?

Dr. Jones: Not only is there no cure, but it's very easy for physicians to make restless legs worse. Prescribing a category of medication called dopamine agonist, it slowly makes the brain have even more restless legs, which requires higher doses which makes the legs worse. And this can take a long, long time to resolve after stopping the dopamine agonist. So rule number one is do not, with all due respect, do not let your primary care provider try to treat this. This really is a complicated, difficult sleep medicine problem, and you should go to a sleep center that has experience with restless legs.

Interviewer: And out of the patients that you see with restless legs syndrome, what percentage find some relief?

Dr. Jones: Well, I think most people find some relief early on in treatment. But again, the best medications we have gradually make the symptoms worse. And when those medications fail, the backup are opioid drugs, and those are potentially addicting. They can cause shallower breathing in sleep. And so, again, you have to be working with a sleep center that understands these things and will keep you safe.

Interviewer: And we still, I'm going to try you one more time. We don't know what causes this.

Dr. Jones: There's only been one genetic alteration that's strongly related to restless legs, but we do not have right now as a clear picture of all the genetics of restless legs and how that might inform a more fundamental cure for this.

Interviewer: And do we know if it's neurological or physical?

Dr. Jones: This is definitely neurological, and it's been linked in mice to a part of the brain where dopamine and leg movements are coordinated.

Interviewer: So after you see a sleep specialist and they are able to help you manage your restless legs, if you're still encountering insomnia, what should you do at that point?

Dr. Jones: At that point, you may well have a learned chronic insomnia, and cognitive behavioral therapy for insomnia is far and away the cheapest, the safest, and really the most effective over the long term. Unfortunately, there are not very many cognitive behavioral therapists for insomnia out there so you have to hunt around for a sleep center that has one.

updated: April 13, 2022
originally published: May 3, 2017

Dr. Jones: Multiple sclerosis is a disease that's more common in women than men. It's a complicated disease, it's a neurologic disease, but it affects many parts of the body and today we're going to talk about the bladder, and MS, and your health, on The Scope.

Announcer: Covering all aspects of women's health, this is the Seven Domains of Women's Health with Dr. Kirtly Jones, on The Scope.

Dr. Jones: Today in The Scope studio, we have Dr. Sara Lenherr, who is a specialist in neurology, she's trained as an urologist, but she's pretty clearly interested in the way the brain talks to the bladder. And today we're talking with her about MS, patients with MS, and problems they might have with their bladder, and what might be done. So talk a little about the brain talking to the bladder and multiple sclerosis.

Dr. Lenherr: In normal patients that don't have neurological problems, the brain is designed to tell the bladder to store urine for as long as is reasonable, and then when you're near a bathroom, then you volitionally go ahead and void out your urine. Unfortunately in multiple sclerosis and a lot of different types of neurological disorders, the communication between the brain and the bladder is disrupted by the nervous system problems that happen in MS.

And so specifically, sometimes that bladder becomes over-active and receives too many signals from the brain, and then it also, the sphincter that's supposed to keep you from leaking doesn't necessarily relax when you want to go ahead and pee.

Dr. Jones: So what happens? So a woman who has MS and has neurologic symptoms in her bladder, what would she experience?

Dr. Lenherr: So usually they'll present with urinary frequency and urgency, but sometimes they just don't empty their bladder at all, so they'll feel like they have to go, they try to go, and then they can't empty out their bladder completely. Either just a little bit comes out or none comes out at all, and interestingly, sometimes we catch these cases of multiple sclerosis before they're even diagnosed by a neurologist, because women will present when they're a little bit younger, and they have no reason to be in urinary retention to not empty their urine.

Dr. Jones: So let's back up, so urinary retention. You mean if they go a little bit, then their bladder gets fuller, and fuller? I see a balloon in my head.

Dr. Lenherr: Exactly.

Dr. Jones: How full is too full and what happens?

Dr. Lenherr: Well, if you have too much urine in your bladder, especially for women, usually when you have too much in your bladder and you're a female, you have what's called overflow incontinence, where the urine just comes out even though the sphincter is nice and tight. And so those women will notice that they just leak, and they can't empty out all the way. They feel full.

Dr. Jones: Well, so a lot of women leak, so how would you know that it's overflow? What test would you do?

Dr. Lenherr: So we can do either a catheterized volume to see if there's urine left over after you pee. Or we can just do a little bed side ultrasound to evaluate whether or not there's any urine leftover in your bladder.

Dr. Jones: So a urologist might actually pick up MS before the patient shows the other neurologic signs of MS.

Dr. Lenherr: That's correct.

Dr. Jones: And these are young women.

And young women being wet all the time is devastating, well it's what, it's devastating for any woman of any age, but for young women in particular, they don't want to be wearing pads, and Depends. So what kinds of things do you have to offer for women with MS?

Dr. Lenherr: So once we identify the problem, then we need to discuss with the patient what drives their quality of life, and what is a safety issue. So safety issues would be if your bladder doesn't empty all the way, and it ultimately causes the bladder to stretch out and cause damage, and sometimes could impact kidney function.

Dr. Jones: Oh, so it backs up and backs up?

Dr. Lenherr: It can back up all the way and it could cause the kidneys to have damage which is a bigger issue. The other thing that can happen with the urine sitting in the bladder for a long time, it can lead you to get urinary tract infections. So there's multiple things that we can address with a safety issue, and then we need to look at quality of life, so quality of life is impacted by leaking all the time, or having to go to the bathroom all the time.

Dr. Jones: So do women have to empty their own bladder with a tube? I mean do you give them medication to make their bladder squeeze a little harder?

Dr. Lenherr: So depending on how their bladder works when we evaluate it, we frequently have to have these patients go use a small catheter to empty their bladder on a timed basis. And that generally treats them very well because it empties the urine when they want to, and they're able to control risks of urinary tract infections and kidney damage, and then they also don't have the overflow incontinence that we discussed before.

That's one good strategy, sometimes if the over-activity is really bothersome, and they still have irritation even though there's a small amount of urine in their bladder, we put them on other types of medication and we also can offer them chemodenervation, which is called botox, which is similar to the botox that you put on your forehead for wrinkles, we can inject that in the bladder to relax it.

And we can also put in nerve stimulators that help act like a bladder pacemaker. So there are multiple different options we can offer women with multiple sclerosis to help them manage their bladders better.

Dr. Jones: Well that's great news, because for MS it's a condition that waxes and wanes through a life time. It often begins in women's early 20s, or 30s. So giving somebody the qualify of life so they can be the persons that they want to be, is a really important service that you guys can offer.

And I think for many women with MS, they feel like their life and their agency has been taken away, and empowering them to have a little more control.

Dr. Lenherr: Exactly, and also considering that we follow them for the rest of their lives, and sometimes their bladder conditions change, so we need to adjust the strategies that were working five years ago.

Dr. Jones: And here at the University of Utah, we have a medical record that helps our doctors talk to each other so you're not doing this just in the urology clinic. You talk to their other MS doctors.

Dr. Lenherr: Exactly.

Dr. Jones: Because often they're on a lot of meds.

Dr. Lenherr: We coordinate all their care and make sure that we're all working together to improve the quality of life and keep them safe.

Dr. Jones: That's great to know because I've had a lot of patients over the years with MS. It's very discouraging. Knowing that there's things that they can do is very helpful, and Sara thank you for joining us on The Scope.

Announcer: TheScopeRadio.com is University of Health Science's Radio. If you like what you heard, be sure to get our latest content by following us on Facebook. Just click on the Facebook icon at TheScopeRadio.com.

Host: It's the second most common form of progressive dementia next to Alzheimer's. What is it? You're going to find out next on The Scope.
Medical news and research from University of Utah physicians and specialists you can use for a happier and healthier life. You're listening to The Scope.
If you don't know a lot about dementia with Lewy bodies disease you're not alone. It's something even a lot of physicians don't know a lot about, but luckily we're here with an expert and we're going to find out more about this disease which is a lot more common than you might thing. We're with Dr. Rodolfo Savica. He's the Director of the Dementia with Lewy Bodies and Parkinson's Disease at the Dementia Clinic of University of Utah healthcare. Thanks for taking time. First question: what is this disease? Is it similar to Alzheimer's?

Dr. Rodolfo Savica: This disease is very close to Alzheimer's and is very close to Parkinson's disease. I would say something in-between the two. The interesting thing is that dementia with Lewy bodies share the same pathology with Parkinson's disease but behaves somehow differently. Try to imagine you have a brain that is affected by Parkinson's disease but you have a more diffused involvement of the brain so together with tremors, shakiness, rigidity, stiffness typical of Parkinson's disease but you also have memory loss but not the typical memory loss that you see in people with Alzheimer's. It something completely different, to some extent. Some people have more problem with planning rather than remembering events.

Host: Okay. So planning versus remembering?

Dr. Rodolfo Savica: For example.

Host: Okay.

Dr. Rodolfo Savica: Or people are having problems with another part of memory which is visual/spatial. So people have trouble with depth perception. People have hallucinations that can be pretty bothersome because sometimes they may interfere dramatically with the life of the individual. So it's something in-between the two but some things different than Parkinson's and Alzheimer's disease.

Host: All right. Can it kill you? The first time I've ever even heard about it was Casey Kasem. Now I heard he's dead. Is that what killed him?

Dr. Rodolfo Savica: That's right. Unfortunately, all the neurodegenerative disorders can kill you. One thing that we know is that, if you use the similarity with Parkinson's disease, we know nowadays that people with Parkinson's disease don't die because of Parkinson's disease.

Host: Okay.

Dr. Rodolfo Savica: They die of normal aging. We don't have the same data available for dementia with Lewy bodies, but the two diseases are very close. The vast majority of people with dementia with Lewy bodies don't die because of the disease. However, there are some forms of dementia Lewy bodies that are pretty fast, basically they kill you in 16 months, but those are the rapid progressive Lewy body disease that is something pretty different than what we normally see in the clinic.

Host: How common is this disease?

Dr. Rodolfo Savica: As you were saying in the beginning, it is the second most common form of dementia and it's the second most common form of Parkinsonism. So Parkinson's is first, second is dementia with Lewy bodies. There's Alzheimer's disease first, second is dementia with Lewy bodies. It's more common than we think because, as you were saying before, it's been poorly understood and for many years was under recognized. This disease was identified for the first time in the 80s by a Japanese physician, Dr. Kozaka, a very interesting man that I had a pleasure to meet. For many years it's been forgotten almost and now we know that people with Parkinson's disease, when they have a more diffused degeneration of the brain, for example, they all have these kinds of symptoms. So it's much more common than what we thought.

Host: And it's difficult to diagnose for a lot of physicians.

Dr. Rodolfo Savica: Yes, because, unfortunately, since it's something in-between Alzheimer's and Parkinson's you have to have dual expertise to understand this. You need to know about Alzheimer's and Parkinson's at the same time. Unfortunately, not a lot of people are trained in both of these two major diseases. So it's kind of difficult because some of the symptoms are very similar to Parkinson's and some are very similar to dementia. So it requires some specific skills and expertise to identify.

Host: Yeah, somebody who's got a lot of expertise with this particular disease.

Dr. Rodolfo Savica: Correct.

Host: So they're so close to these other diseases. What happens if it's misdiagnosed? Is that a bad thing?

Dr. Rodolfo Savica: It can potentially be a bad thing because the symptoms are quite different, however similar, and the response to medication is pretty different as well. For example, one of the classic drugs that is highly used in Alzheimer's disease is a class called anti cholinesterase inhibitors, Donepezil, a drug that has been used for more than ten years in the U.S. and the rest of the world. This drug works better in people with dementia Lewy bodies than in people with Alzheimer's disease, so you want to do a good diagnosis and a correct diagnosis because then you have to manage the symptoms appropriately. If you have a wrong diagnosis it's not going to be the case.

Host: You're using the wrong drugs.

Dr. Rodolfo Savica: For example.

Host: Could that cause death if you were given the wrong drugs for the disease?

Dr. Rodolfo Savica: It can cause problems.

Host: Like what type of problems?

Dr. Rodolfo Savica: It can cause problems. For example, if you use another class of drugs that are called neuroleptics people with dementia Lewy bodies, for example, if you use haloperidol, a drug that's used a lot in our geriatric population, you may have a bad reaction. You have something that can lead potentially to death to some extent or definitely can lead to confusion, worsening of memory loss, worsening of Parkinsonism. So it's definitely something that is impacting highly the wellbeing of the individual affected and also the caregivers.

Host: So if you have a physician and he's like, "Oh, boy, I don't know," then that might be a time as a family member for that loved one to seek out a specialist?

Dr. Rodolfo Savica: Oh, yeah. Absolutely. I would say that every time there's a doubt from a physician or from family members it should be better to seek out a specialist. Unfortunately, there aren't very many in the U.S.

Host: Yeah, you're one of the few and this is one of the few clinics in the whole United States that actually is dedicated to this disease, if I understand correctly.

Dr. Rodolfo Savica: That's right. The current number is four.

Host: That's not very many, is it?

Dr. Rodolfo Savica: Not very many at all.

Host: I would imagine that number is going to increase at some point.

Dr. Rodolfo Savica: I hope so, actually. There's actually five in these world.

Host: So how do you determine? Are there any tests for it or is all just cognitive stuff?

Dr. Rodolfo Savica: Well, there are some tests. Usually whenever I evaluate a patient with a possible dementia with Lewy bodies diagnosis I run several tests. This includes neuropsychological assessments and formal four hours evaluation for memory, plus imaging, MRIs, and other imaging like functional imaging, something called FTG CAT scan or DaTscan, dopamine transporter scan, that can be very helpful to identify this disease and better clarify the diagnosis and also the baseline status of the patient, where the patient is and what can happen in the future.

Host: So there are some tools available to you?

Dr. Rodolfo Savica: Absolutely, yes.

Host: None of them give you a definitive answer. You have to take all of these things together.

Dr. Rodolfo Savica: That's right. With clinical criteria and neural imaging we can be very close to the top six level. There are also some people that we're going to misdiagnose but there are not very many.

Host: Is there a cure for it?

Dr. Rodolfo Savica: There isn't anything that can delay the progression or block the progression of the disease. It is something that is present in any disorder that involves neurodegeneration, Lou Gehrig's, Parkinson's, and dementia in general. But there is a cure in a sense that we can do a lot to improve the quality of life, the wellbeing, and also the survival of people with this particular disorder.

Host: So if somebodies looking for more information on this do you have a resource you'd recommend?

Dr. Rodolfo Savica: Sure. First of all, I would like to say that for any questions, please feel for the contact us directly through the phone that you can find online at this particular website. It is UtahMovementDisorder.com.

Host: Are there any final thoughts you have on this topic, anything you'd want the listeners to know or take away?

Dr. Rodolfo Savica: I would like the listener to know that they're not alone. We are a team of people who are invested in this particular disorder. We are also launching, other than the clinic, a support group specifically devoted to people with this particular disorder. We are trying to do our best in terms of clinical care and research to help these people with this disease. In addition, I also say that we are more than happy to see all the possible patients that are interested to be seen with this disorder, but it's always better to talk with their physician first.

Announcer: We're your daily dose of science, conversation, medicine. This is The Scope. University of Utah Health Sciences Radio.