In this special Rare Disease Day episode of the Brain & Life Podcast, co-hosts Dr. Daniel Correa and Dr. Katy Peters respond to your listener questions. They explore how rare diseases can affect relationships, offer guidance on planning for the future, and share tips for explaining complex medical conditions to others.
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Resources Mentioned
- In the Mix with Rob Floyd: Lessons on Mixology and Moyamoya
- What is Pompe Disease?
- Surviving Stroke: A Story of Perseverance and Grace
- CADASIL Foundation
- Pompe Disease News
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Episode Transcript
Dr. Correa:
From the American Academy of Neurology, I'm Dr. Daniel Correa.
Dr. Peters:
And I am Dr. Katy Peters, and this is the Brain and Life Podcast.
Dr. Correa:
Saludos, and welcome back to the Brain and Life Podcast. Now we've wrapped up the Winter Olympics. I hope everyone got a chance to enjoy, and maybe you celebrated alongside us that Elana Meyers Taylor won the gold medal. That was amazing.
Dr. Peters:
Woo-hoo.
Dr. Correa:
If you didn't catch it-
Dr. Peters:
Awesome.
Dr. Correa:
... go back and see her win the gold medal in the mono or the single bobsled ride. Not only amazing to see her do it, but her to get to do it on her own like that. And just, I was there watching as a listener and just a member of our podcast team. Just so proud to see one of our community members really reaching those heights.
Dr. Peters:
It was so great to see her, Daniel. I thought that was so awesome. So exciting, so excited. My husband and I were cheering on. Go, Elana. Like, yay.
Dr. Correa:
Yes. And then doing something that just seems like crazy. All of these winter sports are just amazing. And this weekend, this Saturday is Rare Disease Day. It's a global awareness day held every year on February 28th. It was launched in 2008 to shine a light on conditions that are often overlooked, and to support people living with rare diseases and their families so that we can help accelerate progress in diagnosis, research, increasing awareness and access to treatments and specialized care.
Many neurologic conditions within our families often fall into this category of rare diseases. Although the group of neurologic conditions very commonly impact our families, many of the individual ones don't often have this higher number of impact. A condition that qualifies as a rare disease is when it's very uncommon. So within the United States, if it affects fewer than 200,000 people within the United States. 200,000 is still a substantial number, if you're talking about 100,000, 50,000 people. So really though, a lot of people and their families are impacted by these different conditions. And if we were talking about outside the United States, within the European Union, that would be a condition that affects no more than five in 10,000 people.
So even though each rare disease may only affect relatively few people, it's like these other things that we talk about, that impacts that help even only a few people sometimes can lead towards scientific advances or improvements in our society for everyone. And there are thousands of rare conditions, and together they make up an impact of millions of families. One reason Rare Disease Day emphasizes our community and visibility and coordination. And we wanted to take this opportunity to discuss and bring together some of the questions that we've received from our community members about unique and rare conditions.
So our first question that we got is from Samantha in Denver. She wrote to us, "Hello Brain and Life. My husband has Pompe disease. Caregiving has slowly become a part of our marriage. How do couples navigate changing roles while still holding onto their relationship?" Thank you so much, Samantha. I think although it relates to your husband's Pompe disease, this is a situation that bridges all different kinds of neurologic conditions and many other conditions, just navigating changing abilities within our relationships
Dr. Peters:
Yeah. Samantha, thank you so much for reaching out. And again, I will just highlight that it's really important for a Rare Disease Day, it really does emphasize community. And thank you for reaching out to us as part of your community for the Brain and Life Podcast audience.
But we've had several episodes on caregivers and how they cope and thrive and support themselves as a couple. And for couples, you could check out some episodes, definitely the one from Cole and Charisma about being a differently abled couple. They're very active on YouTube and TikTok, and share their lives living as an interabled couple after Cole's cervical spine injury leading to quadriplegia.
Now, Pompe's disease, I know is very different. And to just educate our listeners, Pompe's disease is a metabolic muscle disorder that is very rare and tends to occur in children, but there is a form that is a late onset in adult patients. It is a autosomal recessive genetic disease and it's also called glycogen storage disease type two or acid maltase deficiency. And it's due to a deficiency in something called acid alpha-glucosidase, leading to what is called a lysosomal glycogen storage disorder. So lysosomes essentially get all packed with essentially glycogen products that can't be broken down and that affects the muscles. And we have muscles in all... Involving our muscles that make our limbs move, but also we have a heart muscle.
So patients may have difficulty with weakness in their muscles, but also heart issues, in particular a issue called hypertrophic cardiomegaly. They can have difficulty eating, they can have hearing impairment. But it is really important to also check out options with your neurologist because there's some new treatments available, particularly for the adult onset type of Pompe's disease. And as you're finding support and navigating these new treatment options, I found a really cool website called pompediseasenews.com. I thought it was a really nice resource and it had a lot out there. Now Daniel, I know that you talked to Tiffany and Chris Kairos. Do you have any insights for Samantha on how to navigate life as a couple while dealing with the challenges of Pompe's?
Dr. Correa:
Yeah. When I was talking to Tiffany and Chris, it was great to hear their strategy and work of really checking in with each other on the kind of help they can provide for each other, not just assuming that Tiffany, with her medical conditions, was the one that was always in need. Giving her the opportunity to also decide, oh, what are the ways, and to hear from Chris, the ways that he needs her to show up. And I think having that opportunity, just in any of our relationships, this can be a good thing for us to work on, is regularly checking in with each other how we're doing today and the ways that we feel like we could be helped.
And so Samantha, you and your husband, not always necessarily, of course, assuming with his medical conditions that it's his limitations are going to be the things that need the most help with today. Really getting an opportunity for you to be able to ask and to share your needs and to give your husband an opportunity to be able to step into those.
And with progressive conditions, which Pompe's disease can be, along with many other neurologic conditions, it's important also to not make functional assumptions, just like also our growing relationships. And so every week or two having some things that we're checking in together on on how your husband is feeling in terms of the different activities or things that he does for himself, he does around the house, or he helps out with, are they feeling more challenging, are there things that he may need some more help with? Or are there ways that he might need more time to help his muscles and body recover because of this limited function and use of the glycogen molecule, this energy molecule that our muscles need.
And so I think that's always a check. And with other progressive conditions, just having that opportunity to really check in, not waiting until it's so bad to the point where our family member, our partner, can't do something, and then therefore we're now to figure out how they get help. But really getting an opportunity to notice and talk about the things that are starting to feel harder and the ways that they want help now, and at what point that level of function would change so much that they are even more open to either bringing in more help? And other things that you might not want in your life now, but thinking ahead of them.
With older individuals or people with progressive conditions, we think about at one point someone wants more help with their feeding, with going to the bathroom, and taking a bath and showers, and with later onset conditions. Also thinking about breathing. And those kinds of decisions that are really important to think about. And we want to have them and have those conversations at times even though they're difficult that we both feel and we all feel like we're contributing and listening to each other, not at the last moment when it all feels overwhelming.
Now we had another question, and I wanted to go to this question from Monica in New York. She wrote, "For those with CADASIL," and again, like Katy said before, we're going to come back and explain that acronym and condition, but back to Monica's question, "I know planning for the future can feel overwhelming. What kinds of support like legal, emotional, medical are most helpful early on? My best friend is suffering and I just want to help somehow."
Dr. Peters:
Yeah. Monica, thank you for your question and for being such a good friend and for reaching out. I agree with you. Planning early is key. And for the medical and emotional parts for your best friend, really that's going to be your doctor, neurologist can definitely give you some resources.
Now, I think the legal and financial are something that sometimes gets missed. And we had a recent episode on the Brain and Life Podcast on the role of financial caregiving. And we actually spoke to financial planner and author Beth Pinsker about her book on financial caregiving entitled My Mother's Money. It was just released this past November, and it's a practical handbook of managing finances for somebody who's aging or an ill loved one.
And what's nice is it's not just about that she's a financial planner, she's really talking about her own life experiences with her mother. So I think it's really personal, deeply personal around that financial part, the emotional part, and the medical part. So it blends really personal anecdotes. Definitely check out our podcast but also check out her book. I think it's a really nice compliment.
Just a little information on CADASIL. Again, it's all about rare diseases, so it's another rare inherited disorder that happens when there's thickening of the blood vessel wall that actually blocks the flow of blood to the brain. And CADASIL stands for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. That's a lot.
Dr. Correa:
Yeah. That's a lot of echo.
Dr. Peters:
Yeah, a lot of background. The symptoms and onset of the disorder can vary from person to person, but it tends to happen between the ages of 20 to 40 years. And they may not show signs. They may get typical signs like a migraine, but then it's accompanied with multiple strokes that lead to dementia and confusion, or even a phenomenon called acute encephalopathy, which can be seen in this. You can have progressive decline in memory and thinking skills and also mental health issues such as mood disorders. There is a great advocacy group I found called cadasilfoundation.org, and they have a lot of resources for patients and caregivers on this website, so definitely check that out.
Dr. Correa:
Yeah, so this is a unique, and as we said, rare condition that leads to the blockage in our arteries that many of us hear about being caused by other medical conditions and uncontrolled conditions like high blood pressure, diabetes, many of the things that can be risk factors to heart attacks, stroke, or vascular diseases of the brain and other parts of your body. But this is not purely driven by those medical risk factors. This is a genetic cause that leads to the hardening of those and narrowing of those arteries independent of all the other things that we hope everyone is doing for their better heart and brain health.
Now one more question we have is from Alyssa coming to us from New Jersey. She wrote to us, "I loved your episode with Rob Floyd. My child has moyamoya, and had revascularization surgery and looks 'normal' now," you know, in quotation marks, "but I'm still constantly on edge. How do I adjust now that the immediate crisis is over?"
I thought, and Rob even relates to that in that episode, but this is such an essential thing. I imagine many family members, and especially parents, think about for children and family members who are living with a neurologic condition that may have attacks or episodes, whether those are strokes or seizures. And there's such a variety of those conditions. So I think this really relates. So what do you think, Katy?
Dr. Peters:
I agree with you, and I agree with Alyssa. I loved your episode with Rob Floyd also. It was a great episode. And Alyssa, I'm so glad that your child is doing well after surgery. That had to be a very trying time going through that surgery. But to recap from the Rob Floyd episode, moyamoya disease is a steno-occlusive disease that affects the terminal inner carotid arteries, the proximal middle cerebral arteries, and interior cerebral arteries. There's all the arteries that are involved in your brain. And unfortunately, it typically affects children and young adults and it leads to strokes.
Now, I found a really interesting article when I was doing some research on these rare diseases from 2022 from the Journal of Neurosurgery by Teo and colleagues, and they actually looked at both the short and long-term outcomes after the revascularization procedure that you described your daughter having, Alyssa. And they looked at it in over 700 patients.
The good news is that there were very good outcomes. 75% of these patients had excellent outcomes in terms of short term, with no recurrent stroke symptoms or stroke. But what was great is they actually sent questionnaires in the long term to really focus in on the really key patient-reported outcomes from both the parents and the children. And they showed that 84% of patients reported resolution and improvement of headaches, which is great. As the children got older, it actually showed that 83% of people remained employed or in school. And that also that younger patients tended to do better than older patients.
And so what I really liked is they really focused, not just on the short term can we fix the problem, but how do people do way long term in regards to their functionality? So kudos to the authors. But also kudos to the patients that have to go through this. I hope that this gives you some breathing space and some calm. I did also in my research find a really great story on the website for American Brain Foundation about a patient's personal recovery journey after moyamoya surgery. And it's at the americanbrainfoundation.org/surviving/moyamoya/stroke. So check it out.
Dr. Correa:
Yeah. And Alyssa, I completely understand this is a challenge that many individuals with recurrent conditions, their families worry about. Our hope is, and particularly as we were just reviewing the statistics of these good outcomes for those who have the revascularization surgery without complications, that can be a reassurance to you, Alyssa, to your family that, the majority of the time, the symptoms that little kids have and all kinds of different situations are hopefully just the regular and normal pattern.
But always, I think having good and open communication together with your children and then her doctors to keep them updated, and that way you're aware of things if they seem to be changing with time. But I think, where possible, in many of these situations for our family members, kids and other individuals and our family, trying to let them try to lead with us and show us the things that they want to do more independently. Let them lead also in reporting how they're doing with their symptoms, in this case, headaches, or any of the functional symptoms that may have come with their arms or legs or coordination both before the surgery and afterwards. I love going back to the stories of others, not only can help you learn things, but also hopefully also help you feel more reassured for what is the broad scope of possibility and patterns and normal for others who've lived with this situation.
Now for our last question, we're going to go to and thank Rachel from Madison, Wisconsin. She shared with us, "Our son was diagnosed with SYNGAP1 after years of seizures and confusion on our end. Because it is so rare, we often have to explain it to teachers and even doctors. What advice do experts have for helping families communicate complex neurologic conditions in everyday settings?"
I think this is so relatable for many people. We end up having to explain so much about our lives, and particularly with rare conditions, to our families, to other people, community members, when you're showing up in new play spaces, or at school, and even doctors from other specialties or who may not be as aware of different rare conditions.
So I think for individual situations, sometimes the best thing is to work with the experts and the specialists that you have that understand your son's condition well, and to have a brief explanation and description that's needed for those who need that detail, that you've been able to craft together with that doctor to help maybe the other doctors and other clinicians, healthcare providers, understand the specifics.
For our listeners, SYNGAP1 related disorder, or often called SYNGAP1 disease, is a rare genetic developmental condition caused by changes in the SYNGAP1 gene. It's important for how the brain cells communicate and how the brain circuits develop over time. And so most people with SYNGAP1 related disorder have a combination of symptoms of varying degrees. Each person and individual can be unique. That can be a combination of epilepsy and seizures that may begin in childhood, developmental delay and intellectual disabilities that can range from mild to substantial and severe. That can come with speech and language impairments or cognitive limitations that include symptoms that are similar to autism and/or behavioral challenges, attention limitations, and sensory sensitivities. And then motor or muscular wise, it can come with low muscle tone, coordination issues, and then broadly, sleep issues.
It's typically diagnosed through genetic testing and requires often specialized seizure management and support, along with other therapy support, speech, occupational therapy, physical therapy and behavioral support. And school tailored accommodations, which really relates to Rachel's description of having to be able to explain it to teachers. And so the teachers themselves, and sometimes our community members, may not need to know all the biology and specific details, so focus on what's needed in the setting. And particularly for the teachers, whether it's behavioral issues and/or the seizures, maybe considering adding two or three common triggers for your child in that situation.
Most teachers, and even many non-specialists, don't necessarily need to know exactly which gene and all those. Just knowing that it is a genetic condition, and these are the symptoms that often can come with it, can help them understand how much of what they're seeing is consistent for what happens at home and with the condition, or if something is different or the things that can be more important to watch for. So the what to watch for, what to do in certain situations, what to avoid, and what helps your child succeed. I think those are specific things for those settings. And as much as you can, try to standardize the language that you're using to the messages for a lot of those overlapping settings, whether it's home, school, and clinics. And that consistency can help reduce confusion and help people take it seriously.
And specific to your child's situation and the state or the school required structure, you may need some of the neurologist's wording and the doctor's wording for their school plans, like an IEP or a 504. And ask for a designated point person for each of those settings. Whether it's daycare, a day program, a school. And for that example at the school, identify maybe one staff member, a nurse, case manager, a special ed leader, another specific teacher who can better own and understand the plan, and that you can interact with and they can reach out to you directly.
And that might help. And that person being able to instruct or train others, and not make it feel like it's so much on you to keep retraining multiple different teachers. And that can help, especially when there's substitutes, when your child may be using the bus, and hopefully as they progress in independence, or other activity leaders in other settings.
And try and consider bringing in, like I mentioned before, credible helpers so that your clinician, your neurologist, your other doctors who can give brief letters and descriptions that are reputable to those who are reading them. And so they feel like, okay, this is valid information, and the doctors and the specialists are agreeing with the information that's being provided. You can provide links to reputable organizations like the SYNGAP1 Foundation and a one-pager. So if people want to look for more, and to help them understand greater information about it.
And above all, give yourself permission to set some boundaries. It's okay to say, I'm happy to explain what matters for his safety and learning today, but for deeper medical questions, here's the information for my neurologist or for the foundation that has more information about this condition. You don't always have to explain it all to everybody. So I think those are hopefully some ways. And those types of strategies I think can be employed by all of us for other conditions, other situations. And maybe if we broaden the concept and context, we don't always have to necessarily think about it for a child or someone in school. We can think of this kind of similar strategy for those who we are care partners and caregivers for.
Dr. Peters:
Daniel, as you were going through that, and I was just thinking about sort of all these great questions is what's not rare about any of this is sort of all the challenges that people can have with neurologic disorders, but also all the tools you can resonate across those diseases. Whether it's the question about the couple, the question here about parenting and education, things from other caregivers, it's really about where you find good resources, how can you help each other? And also a little bit of grace can go a long way. So I think that I'm glad we can be a resource for our brain And Life audience.
Dr. Correa:
Absolutely. And I think that was a great part in the combination of these questions and what we're hearing. What's rare is the mechanism for these conditions. That a lot of times the symptoms and the other effects or other related conditions, whether it's seizures or cognitive challenges, there are things that we all should be able to relate to because of their impact or how common they may be in different parts of our families. And as you said and pointed out, the ways these conditions impact us as individuals, as families, and as society is not. And they're all things that hopefully we can improve on together.
Thank you again for joining us today on the Brain and Life Podcast. Follow and subscribe to this podcast so you don't miss our weekly episodes. You can also sign up to receive the Brain and Life Magazine for free at brainandlife.org.
Dr. Peters:
Also for each episode, you can find out how to connect with our team and our guests, along with great resources in our show notes. We love it when we hear your ideas or questions. You can send these in an email to blpodcast@brainandlife.org, and leave us a message at 612-928-6206.
Dr. Correa:
You can also find that information in our show notes, and you can follow Katy and me and the Brain and Life Magazine on many of your preferred social media channels. We are your hosts, Dr. Daniel Correa, connecting with you from New York City and online @NeuroDrCorrea.
Dr. Peters:
And Dr. Katy Peters, joining you from Durham, North Carolina, and online @KatyPetersMDPhD.
Dr. Correa:
Most importantly, thank you and all of our community members that trust us with their health and everyone living with neurologic conditions.
Dr. Peters:
We hope together we can take steps to better brain health and each thrive with our own abilities every day.
Dr. Correa:
Before you start the next episode, we would appreciate if you could give us five stars and leave a review. This helps others find the Brain and Life Podcast. See you next week.
