A Nice Problem to Have: Transition of Rare Disease Patients to Adult Care

Marshall L. Summar, MD; Amy Nadel


November 28, 2016

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Marshall L. Summar, MD: Hi. I'm Dr Marshall Summar, Chief of the Division of Genetics and Metabolism at Children's National Medical Center in Washington, DC. We're here today at the National Organization for Rare Disorders (NORD) Rare Disease Summit 2016. One of the important topics is the transition of patients with rare diseases from childhood to adulthood, and I have a special guest with me today, Amy Nadel.

Amy Nadel: Hi. I'm Amy Nadel, editor of Medscape Rare Diseases, and I'm also a parent advocate.

Dr Summar: Amy, I've been wanting to talk to you about this for some time. One of the things that is most encouraging to me about rare diseases is all of the progress that we've made with our patients. It used to be that we didn't worry about adulthood, because a lot of our patients didn't make it. Now, with new and better treatments, newborn screening, and everything else, more and more patients are living into their 20s, 30s, 40s, 50s, and past that. Suddenly, we have a whole group of patients going from adolescence into adulthood with rare diseases.

I know you've got some experience with this: You now have adult children with rare diseases. What advice would you give to both a good general practitioner as well as a parent?

Ms Nadel: I think one of the big pieces of advice I would give is to start planning early. I have one adult child with a rare disease, and I have another adult child who has special needs. We started transition planning for him much earlier than we did for our other child. If I had to do it over again, I would start planting those seeds earlier on.

One of the things you deal with in the rare disease world is a lot of emergencies, which creates sort of a dependent bubble between you and the child—really, the entire family. So, not only is it tough for the child or adolescent to let go, it's tough for the parents to let go. You try to let the bird go, but the bird is sort of sticking to your hands, and you're kind of not really letting him go that hard. If you can, early experiences that let you separate in a safe way are very, very important.

Make the children be responsible for themselves, transitioning some of the medical pieces to them as soon as possible. Have them measure out their medication or give themselves their medication, and watch them do it. Get them used to all of that, and train them on how to get a trusted friend who can observe them if they start to get into trouble, so that they don't rely on the altered state that happens sometimes. For example, when kids get low blood sugar or other metabolic derangement, they can't accurately tell what's going on, so having a trusted friend to help shepherd them through is important.

And then, be around as much as you need to be and not around as much as you want to be. That is very important, too. It was difficult, but ultimately, our job as parents is to get our kids to be independent. It's painful for some of us who have kids who have been dependent. And again, we had this rare bubble around ourselves, but it's enormously satisfying to everybody when that happens, and you feel a huge win.

Dr Summar: I've noticed that most rare disease patients initially present to pediatricians and the pediatric world. So, although nobody sees a lot of rare disease patients, historically, pediatricians and family practitioners who specialize in kids have seen the bulk of these patients. Now suddenly, as these patients are becoming 20, 30, 40 years old, and they're starting to have adult healthcare problems, we've had a lot of trouble finding adult physicians who are comfortable with taking on a patient with a health condition they've never heard of before.

The other side to that coin is that we don't have a lot of data yet on how these patients do when they become adults. They're coming into the adult years with varying degrees of health. Some are great. Some are perfectly normal, perfectly healthy. Some, however, may have some compromise. Not everybody escapes completely unscathed, and sometimes they'll have some issues around executive function, cognition, or life skills. How have you dealt with that successfully, or what have been the challenges with your own kids?

Ms Nadel: We have been very, very lucky to have been able to find primary care physicians and internists who, for one reason or another, were interested in the case. In the case of the one child with the rare disease, the primary care physician wasn't taking new patients, but because my child has two rare diseases, one of the specialists recommended a colleague who is an internist. He was very intrigued by the case and couldn't get enough information about it. He was very happy to be part of the care team, along with the geneticist and all of the specialists, because this was a complicated case with many health events that were outside the norm of the disease. This person made a huge difference in helping my daughter have a normal life, and we were very lucky with that.

For my other child, we also found somebody who was very interested in the type of individual he is and his cognitive impairment. He was very interested in that type of patient and had a number of patients who were like my son. He was able to manage my son well and make him feel like he's responsible for his health as much as he possibly could be, and that's important. It's very difficult for parents to step back and let their children take care of themselves, even though they will always be there if help is required. I have found that when there is real trouble, they do ask for help.

Dr Summar: Another important thing is making sure that as the child becomes more and more of an independent adult, they have some way to signal or let people know that they have a rare disease or a special need. For instance, we've had patients who have problems processing ammonia, and when the ammonia goes up, they look intoxicated. I've known a couple of people who were pulled over and arrested for that. So, a key thing to do is to make sure that they have something that says, "I've got something a little bit more than the usual."

What are some of the issues around the legal system? If your child grows up and everything's fine, it's not such a big deal, but that's not always the case. What are some of the things you'd recommend to both parents and physicians regarding planning?

Ms Nadel: You have to understand very early on what the transition to adulthood means from a legal perspective, whether guardianship is in order or not. You should start that process early, because it's much easier if you start early. You also have to talk to your kids about that. You have to be open and transparent and give them as much information as you think they can handle. There's lot of assistance for talking to kids about that so that they feel as independent as possible, even if guardianship is necessary. Our goal is to make our kids be as independent as possible for their abilities.

In terms of having signposts to let others know about a situation such as the one you describe, absolutely everybody should have a card in their wallet. Medic alert bracelets are not so beautiful, but if you need one, you should have one. We have big laminated cards that are in fun colors in our cars. We have lots of them, everywhere. I always have a permanent something in a backpack or a pocketbook, something that is going to stand out—something larger than a card, so that it's easy to hand to somebody and it's easy to find. It's important if you have executive functioning problems.

That's my recommendation, and again, have an emergency plan. That's always my number one recommendation.

Dr Summar: I occasionally still find adult physicians who are reluctant to take these patients on, so this message is kind of for you guys and gals out there. These are the most interesting patients you will ever work with. These are the patients who are going to challenge you; they're going to make you a better doctor. You're going to learn things about everything from genetics to physiology to biochemistry that you hadn't seen since medical school. You're going to learn how to put those things into practice. This can be one of the most rewarding parts of your practice as opposed to something that should scare you. What do you think about that statement?

Ms Nadel: I think it's true. You might find a patient who has been trained to have a dialogue with you that might be very interesting. They can give you a real medical history when you talk to them about their health and what's going on with them. They can actually speak with you about it very, very directly and very eloquently. Even if they do have some challenges, they've been around doctors a lot. Many of them have had excellent relationships with doctors, so there's a level of trust that's kind of built in there. You're going to hear things that you've never heard before that might really make you think, and I think it's going to enrich your life. That's how I feel.

Dr Summar: The message we'd like to get out to the medical public is that these are some of the best patients that you'll ever get to take care of. There are many of them coming along, with all the success in treatments and screening. You're going to see more and more patients and they're going to be living longer and longer. So, even if you're still scared about it, get your toe in the water and climb on into the pool, because I think you're going to find it a very good place to be.

Thank you very much. This is Marshall Summar, from the NORD Rare Disease Summit in 2016.

Ms Nadel: Thank you.


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