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Interviewer: Amyloidosis is a rare and possibly debilitating disease, which affects about 4,000 people a year in the United States. If left untreated, the disease can cause severe organ damage, so early detection is critical. Dr. Aman Godara is an amyloidosis specialist at Huntsman Cancer Institute. Dr. Godara, first of all, what causes this disease?

Dr. Godara: So amyloidosis is a rare and complex disease where a protein misshapes itself, becomes the amyloid protein, and then deposits in different organs of the body causing damage.

Interviewer: So it collects in different organs?

Dr. Godara: Correct.

Interviewer: And for each patient, it could be a different organ. It could manifest itself differently.

Dr. Godara: The type of protein that's behind amyloidosis could affect what type of organ is involved in the body.

Interviewer: And the diagnosis for a lot of patients can be kind of an aha moment because it can manifest in different ways. Somebody could be experiencing some sort of abdominal pain and just really can't track down what it is, and it ends up being amyloidosis. Explain that a little bit more, that aha moment.

Dr. Godara: So the diagnosis of amyloidosis can be very challenging because, as we mentioned, there are several different types of protein that can cause several different manifestations in the body.

So usually, when a patient is being diagnosed with amyloidosis, the diagnosis requires a biopsy of an organ or a tissue in the body that we suspect would be involved with the amyloidosis.

There have been some newer developments in diagnosing amyloidosis, and that's the type of a nuclear scan that we have started using to diagnose a type of amyloidosis that we call as the ATTR amyloidosis.

Depending on the type of organ that's being damaged by the amyloidosis, the symptoms could vary along. If someone's heart is being damaged with amyloidosis, usually patients with heart damage from amyloidosis experience shortness of breath, they experience swelling in their legs, and when they go to see a cardiologist, they are usually identified to have heart failure.

When amyloidosis affects the kidneys, it can cause leakage of protein in the urine, which can manifest itself as a form of urine. Sometimes patients with amyloidosis have involvement of their nerves and that can manifest as painful neuropathy involving their arms or their legs.

Interviewer: So when somebody is experiencing some of those symptoms, they might go to their family doctor, right? And it sounds like this could be a lot of different things. Is it pretty easily misdiagnosed at first?

Dr. Godara: As the diagnosis for amyloidosis is so challenging, misdiagnosis occurs often because the type of symptoms that come along with amyloidosis can occur from other diseases and other conditions.

If a patient is experiencing symptoms of heart failure, that could manifest from a different number of reasons. When patients have kidney dysfunction, that can also occur from a list of different conditions that can damage the kidneys.

So often at the point of care, when these patients are experiencing symptoms that might be related to amyloidosis, the patients end up seeing multiple different types of specialists before they are diagnosed with amyloidosis.

And there are certainly some delays in diagnosis that, on an average, patients take 6 to 12 months to be diagnosed with amyloidosis from the time their symptoms start.

Interviewer: And that's important because time is really important with this diagnosis because the damage to that particular organ keeps occurring.

Dr. Godara: The damage from amyloidosis is progressive damage. So the longer we are taking to diagnose amyloidosis, the more damage would occur in that organ that's being affected by this disease. So timely diagnosis is of utmost importance.

Patients who are diagnosed earlier in the course of disease might have damage to that organ that could be reversible at that point. But ultimately, if we miss a diagnosis, and it takes a really long time for a patient to be diagnosed with amyloidosis, that damage to the kidney or to the heart could end up being an irreversible damage that even treatments would not be able to recover from.

Interviewer: That's really challenging because as a person that has a condition, sometimes you have to go through some multiple diagnoses to figure out what it is. Is there any piece of information that a patient might have that would indicate earlier than later that it is an amyloidosis?

Dr. Godara: So patients who are suspected to have amyloidosis usually require a comprehensive evaluation to identify the type of amyloidosis and to identify the manifestations of it. So the workup depends quite a bit on the type of amyloidosis that we are suspecting.

If we are suspecting lichen amyloidosis, that occurs from the excess of lichens, the first and the foremost test that we perform for those patients are blood and urine testing to identify if they have an excess of lichens, which could ultimately be causing amyloidosis.

If patients have an excess of immunoglobulin lichens in their blood or urine, the next step for those patients is to have a bone marrow biopsy to identify any clone in the bone marrow that might be producing these excess lichens and ultimately the amyloidosis.

The other type of amyloidosis that we commonly see is the ATTR amyloidosis, which occurs off a defect in the transthyretin protein that is being produced by the liver. Patients who have ATTR amyloidosis could either be patients who have developed this type of amyloidosis because of old age or this could also be the type of amyloidosis that runs in the family.

So if we are suspecting a patient with ATTR amyloidosis, and we suspect that they have some cardiac damage from it, there is a nuclear scan of the heart that can help us identify this type of amyloidosis. This scan is called as the PYP scan. Patients who have a more genetic form of ATTR amyloidosis, we have genetic testing that can be done either through a swab or a blood test that can help us identify the hereditary type of ATTR amyloidosis.

Interviewer: How reliable are these tests?

Dr. Godara: When patients undergo evaluation for amyloidosis, the blood and the urine testing usually helps indicate whether or not there is any damage that's occurring to the different organs in the body that we would suspect in a patient with amyloidosis. So they only tell us to a certain extent.

Ultimately, patients would require either a tissue biopsy or an organ biopsy to see that amyloid accumulation happening in that organ to have a confirmation of this type of diagnosis.

Interviewer: Many patients find information on the internet when it comes to this disease that can cause anxiety and apprehension. Why is that?

Dr. Godara: I think the answer to that lies in the complexity of the disease. When patients look up amyloidosis, one thing that they might not know at that time is the type of amyloidosis that we are suspecting that they have.

The workup for amyloidosis, the treatment for amyloidosis, and the prognosis of amyloidosis depends a lot on the type of amyloidosis that they have. So the information on the internet might not be very accurate to the fact to the type of amyloidosis that these patients have. And the generalized information can create a lot of confusion and apprehension.

Interviewer: So somebody could find out they have amyloidosis but not exactly know what kind, go to the internet, start doing some research, and then that can be scary place.

Dr. Godara: I think that's correct. When we see patients who are referred to us for amyloidosis, patients have very limited knowledge as to what this disease entails and why this diagnosis is being suspected. So my job for my patients is to explain to them why the suspicion exists, and what do we need to do to identify whether or not they have amyloidosis.

The information that's available for the patients before they have completed the evaluation could be very generalizable and might not be important to that type of amyloidosis that they have.

Interviewer: And let's talk about treatments for the condition. So you have a positive diagnosis, you know what kind it is, you know what it's impacting, I would imagine that the treatments that you would give depend a lot on the same kinds of things we've talked about up until this point.

Dr. Godara: So as there are so many types of amyloidosis that can inflict damage into the body, the treatment basically depends on the type of amyloidosis. So there have been a lot of developments and a lot of exciting work has been done for patients with amyloidosis in the last few years.

So when we see patients with lichen amyloidosis, just last year, we had a treatment that is specifically developed for patients with lichen amyloidosis that was approved by the FDA. This is a combination of four medications together that not only results in eradication of the clone that causes amyloidosis, but also helps improve the heart, kidneys, or any other organs that might have been damaged as a part of this condition.

So patients who have transthyretin amyloidosis have two different types of treatments available for them. One treatment focuses on stabilizing the transthyretin protein and preventing it from turning into amyloidosis. And the other type of treatment targets the liver and prevents it from producing the transthyretin protein, so that ultimately you cut out the source that would be causing amyloidosis.

So there's been a lot of progress and a lot of other new treatments that are in clinical trials for these two types of amyloidosis. For several other types of amyloidosis, we don't have any treatments available yet.

Interviewer: And for those patients, is it just managing the disease best you can, managing the symptoms? What's the strategy?

Dr. Godara: So patients who have types of amyloidosis that we don't have treatments for, our focus remains on the organs that are afflicted from this disease. We try to support the organs that are damaged as a part of amyloidosis, and sometimes these patients will end up receiving a kidney transplant, or a liver transplant, or a heart transplant depending on what type of organ was damaged, irrespective of whether or not we have any treatments available for that type of amyloidosis.

The first and the foremost thing for patients with amyloidosis is to identify these patients at the earliest, because the sooner we take to diagnose this condition, the sooner we can try to reverse this process.

Delays in diagnosis can ultimately hurt the patient, so we have to create awareness at all levels of our healthcare system to identify these patients who might or might not have amyloidosis so that they undergo the appropriate workup and have a confirmation on whether or not they have this condition.

So we need to create awareness not just at the level of the primary care doctor, but also the specialists that our patients see. And at the same time, we also have to increase the awareness about this rare disease with our patients, so that if they have one of the symptoms that we relate with this condition, our patients can come to us and be evaluated for the suspicion.

The one thing that patients with amyloidosis require is a comprehensive evaluation. So when we suspect amyloidosis in a patient, our patients require a multidisciplinary team to not just help identify whether or not they have amyloidosis, but also once the diagnosis has been confirmed, we can focus not just on the cause of what's causing the amyloidosis but also help support the organs that are damaged as a part of this disease.

So at the Amyloidosis Program at Huntsman Cancer Institute, our patients receive care under a team of specialists that includes representation from cardiology, nephrology, and neurology to provide the best possible care that our patients need.

Donating your child's organs when the unthinkable happens is not normally something parents ever think of. If you've been following my recordings, you know that a dear friend lost her teenage daughter recently. We had been very close to her daughter since she was a baby. And it was amazing that even in this difficult time, my friend thought of others. Her daughter was an organ donor. She improved the lives of at least six other children by this selfless act.

Before I was a pediatrician, I worked in organ transplant as one of the original 12 organ placement specialists for UNOS, the United Network for Organ Sharing. My job was to take information on those who had been declared brain dead, enter it into the computer, and find matches. That means finding those people waiting on the transplant list, who were genetically similar enough to the persons whose organs were being offered and coordinate with the transplant teams on both sides to get lifesaving organs from one person to another.

People can declare if they want to be organ donors on their driver's licenses or in their wills. But what happens when a child passes? Parents have to make that decision under the most difficult of circumstances. The process starts when a child is admitted to the intensive care unit and the doctors there suspect that the child will not recover from their injuries. They will discuss if the parents are interested in donating their child's organs if their child is declared brain dead.

Brain death happens when the brain essentially stops being able to do what it normally does — think, feel, and tell the body what to do. It cannot be reversed. While the heart can continue to beat and machines can keep a patient breathing, the brain is no longer working. A child may appear to be sleeping, but they're not. They're kept alive by machines and medicines. When the machines are turned off, the rest of the body will die, just as the brain already has.

Specific exams are done by specialists to confirm brain death. Someone is never declared brain dead without all of those tests being done to confirm that the brain is no longer functioning. Once brain death has been declared, someone from the local transplant team, called the organ procurement organization, will come and meet with the family. They are usually medical personnel with special training in how to handle this most sensitive situation. They will be able to answer questions and help the family through the process.

Once parents give consent, the paperwork begins, and that is where what I did comes in. When donors and recipients are matched, organ placement specialists will help with transportation to get the organs to where they need to go. Once everything is coordinated, the donor is taken to the operating room where the organs that were placed are then removed from the body and the machines are turned off, and thus, the patient has now become cardiac dead. Their heart stopped beating and they are gone.

The donor patient can have a full open casket funeral if desired. The organ procurement team works closely with funeral homes to make sure this can happen. For privacy, the recipients of the patient's organs are not disclosed to the donor family. But the organ procurement team does let the family know how many organs were able to be transplanted into waiting recipients.

While nothing can make the pain of losing a child suddenly better, families often say that knowing that, during the tragedy of their loss, they were able to give the precious gift of life to another and that helps the healing process begin. Their child will live on through those they have helped.

Knowing their friend was an organ donor started the conversation with my boys. They both told me that they would like to be donors if anything happened to them. They know their father and I are both registered donors as well. If you would like to be an organ donor, you can sign up at UNOS, UNOS.org/register-to-be-an-organ-donor. I would like to dedicate this podcast to all who have made the choice to donate and save another life. Thank you.

Interviewer: When many people think of organ donation, we tend to think of adults and ourselves and did we check the box. But kids need organs too. Kids and organ donation. That's next on The Scope.

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Interviewer: Dr. Jill Sweney is a Pediatric Intensive Care Physician and she sees both sides of the organ donation process with very young children. Dr. Sweney, I wanted to ask you a question. So it's your job, if a child looks like they're going to die, to go to the family and talk to them about would you like to have your child's organs donated. That must be really hard. It is a very tough situation and now you're going asking them for something. Tell me about that.

Dr. Sweney: It never gets easier. Generally, after we deliver the bad news that you we don't think their child is going to make it, we give them time to process that and then we do go talk to them about the potential of their child's organs being able to be transplanted. We have a good relationship with our organ procurement organization and they help us with some of those conversations. But some families don't have any knowledge about organ donation or the potential.

Interviewer: They never even considered it? Yeah.

Dr. Sweney: They never talked about it with their families before. And so more often than not, they are very interested in something good coming out of the worst day of their life.

Interviewer: I try to put myself in your situation. I have to go up to this family now, worst day of their life, and try to give them this information. It would be easier not to have to do that. Your life would be easier.

Dr. Sweney: Yes.
Interviewer: But yet you still do it. Why?

Dr. Sweney: I get to see both sides and I say, "I get to" because it really is an honor to get to be so influential in these families. We also get to see organ recipients, kids that have been in the hospital most of their lives with illness who then come out and make improvements as soon as the new organs are put in.

Interviewer: That quickly?

Dr. Sweney: Yes. It's often fun to see, especially with the kidney donors. They may not have had any urine output for sometimes even years. To see the family see that they're making urine so quickly is really, really inspiring.

Interviewer: Changing diapers just becomes a blessing.

Dr. Sweney: It does. It does.

Interviewer: Yeah. So you see both sides of it. You've seen how organs can dramatically change a child's life. But yet there's still a shortage of organ donors, not only for children but for adults as well. Am I correct in that?

Dr. Sweney: Right. Right. And that's another unfortunate side of working in the ICU is that we, unfortunately, do still see kids that are on the waiting list who have waited just too long and they pass away.

Interviewer: Why is there that shortage? Do you have any idea, any knowledge?

Dr. Sweney: I think it's partially awareness. I think that a lot of us think we would certainly want to do that, but we haven't had the conversation with our loved ones. And in that moment of stress, when they need to make a decision, they don't they don't know what we would want to or if we're passionate about it. Just having a conversation at the dinner table with your family about if something bad was to happen if that's something they would want to do.

Interviewer: I guess I never considered child organ donation before. How young can a child be and still be able to donate organs? Is there any sort of age limit?

Dr. Sweney: Not really. We've had donors in infancy. Certainly heart donors and small babies, there are plenty of kids waiting for new hearts due to congenital malformations and even kidneys are being used clear down to a very small size.

Interviewer: One of the challenges, I think, is how do you get somebody that is not an organ donor to be an organ donor. What would you say to that person? What are some of the things you say to help them make that decision a little easier for them?

Dr. Sweney: I think stories are probably the best way to convince people. There isn't a donor or recipient story that isn't powerful. They're all amazing. The people who have to make those decisions for their loved ones are amazing people that are giving a gift that they're not going to see as much of the payoff from, so to speak, as the parents of the recipient, to see the hope that they've had and then to be able to see that their child is actually going to get out of the hospital. Telling those stories, I think, are the best and the most convincing.

Interviewer: What are some of the other benefits of organ donation for the donor? We talk about just thinking of I've given my organs. A single organ donor, a lot of times, can affect five, six, seven people's lives. It's not just one person. But what other benefits have you seen that the donor gets?

Dr. Sweney: So I think that the donor's family, you see a sense of peace in them where they can now start to make sense of all of the whys and kind of "now what." After the death of a loved one, they can know that they live on and that their loved one made a difference. That's bigger than anything they could do while they were alive.

Interviewer: Certainly bigger than donating blood, which is what the giving the gift of life . . . this is really the gift of a life and not just in the physical living sense. Completely changing somebody's life, a child who now can go out and play and learn and grow up.

Dr. Sweney: Yes, absolutely. That's really what makes it worth having those conversations.

Interviewer: Do you have any resources for parents or anybody that's considering organ donation, whether it's they want to have the conversation at the dinner table that you recommend about their children or about themselves that they can get some more facts or information?

Dr. Sweney: The United Network of Organ Sharing, or UNOS, is a great resource, as well as our local organ donation organization, which is Intermountain Donor Services. They have a lot of information on their website as well.

Interviewer: Any final thoughts? Anything I forgot to ask or anything you feel compelled to say?

Dr. Sweney: I don't think it's ever too early to have conversations with any of your loved ones, whether it be your parents, your siblings or even your children. Most children are incredibly interested and these days most of us know somebody who has been affected by either donating or receiving organs. I don't think it's ever too early to have those conversations.

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