Paralympian Jamal Hill on Winning Bronze with Charcot-Marie-Tooth

Episode Transcript

Dr. Correa:
Saludos and hello. I'm Daniel Correa.

Dr. Nath:
And I'm Audrey Nath.

Dr. Correa:
We're two neurologists and fellow brain geeks hosting the Brain & Life Podcast. This show, the Brain & Life Magazine and website are all brought to you by the American Academy of Neurology.

Dr. Nath:
We're so glad you're joining us. We'll be here each week for conversations and interviews with community members, celebrities, and experts on brain health and living with neurologic conditions. Now, let's get to today's show. Daniel, I got to talk to a legit international athlete, Jamal Hill. I don't know if you grew up with sports, but this was an incredible story.

Dr. Correa:
I definitely grew up with sports, a variety of them, but I don't know Jamal Hill. What was his sport?

Dr. Nath:
He is a swimmer. He swam in the Tokyo Paralympics and set an American record, and won the bronze medal.

Dr. Correa:
Wow. Okay. Yeah.

Dr. Nath:
I don't know if you ever did that.

Dr. Correa:
No, I definitely didn't win any medals, especially not swimming.

Dr. Nath:
Oh, really?

Dr. Correa:
Yeah. No. Both getting up early in the morning is not always my strength, especially growing up, and particularly swimming. Somehow, I tended to be the one in the family that sank and my sister swam. She swam competitively. I did wrestling and soccer, which were great for me, but somehow the early mornings and jumping into a cold pool were not my game.

Dr. Nath:
Now, Jamal Hill actually goes and teaches young people how to swim, and so maybe you could go find him with that. He'll teach you. It's just incredible, his story. He has a form of neuropathy, a hereditary motor and sensory neuropathy, or Charcot-Marie-Tooth, CMT, which is a disease that we see in pediatric neurology that can be inherited and then there can be weakness and other neurological signs.

Dr. Nath:
He talks about how he was totally fine and then started to feel changes in sensation, and then weakness that he will tell us about, but then continued to swim and went to the Paralympics. It's just an incredible story.

Dr. Correa:
Wow. Despite those challenges. Some people have such a mild form of Charcot-Marie-Tooth that it actually shows up first as adults. They may end up seeing an adult neurologist and find out that the reasons they're having sensation loss or weakness is from this condition. It's important either, in either the adult or the kids.

Dr. Nath:
Totally true. That's right. You as an adult neurologist might have seen some of the milder forms that show up in adulthood. Jamal's is in between. They can start early in childhood. His was right around the age of 10, with a pretty significant deficit that he has been able to overcome.

Dr. Correa:
Well, I'm really looking forward to his story then.

Dr. Nath:
Today, we welcome a world-class athlete in swimming, who also has a neuromuscular disorder. He has competed in the Paralympics, where he won a bronze medal in the 50-meter free style, which is incredible, and he set an American record. Now, in addition to being an athlete, he is working towards teaching one million people to swim, and he is a business person and all-around great role model for all of my patients with neuromuscular disorders. For sure. Welcome to the Brain & Life Podcast, Jamal Hill.

Jamal Hill:
Hey, everybody. Thank you so much for having me today, Dr. Nath. I'm excited to be in attendance.

Dr. Nath:
Tell me. I know I've read about this, but just for our listeners who may not know, how old were you when you started swimming?

Jamal Hill:
I started swimming mommy and me, so about 10 months old.

Dr. Nath:
My goodness. As long as you can remember, you were in the water, right?

Jamal Hill:
Oh, yeah. Longer than I can consciously remember. Right. There are the pictures, there are the stories, mostly other people's memories that I've owned as my own now. But I don't know, since day of 10 months, I've been in that water.

Dr. Nath:
You've been swimming. You took to it. That sounds like one of the more successful mommy and me swimming classes that I've heard about. Not everyone goes on and competes internationally after that.

Jamal Hill:
It was a long journey. Yeah.

Dr. Nath:
A little bit of time lapse.

Jamal Hill:
A little bit of time passed in between those two things happening.

Dr. Nath:
For our listeners, Jamal has a neuromuscular disorder that we refer to as Charcot-Marie-Tooth. I know that's kind of a funny name, but those are the people that came up with the disease. It can cause weakness and it's a genetic disorder that affects myelin, which is the wrapping around the neurons. When did you start to notice symptoms of this neuromuscular disorder?

Jamal Hill:
For me, I guess it would still be considered early onset. This, it didn't "happen" until I was about 10 years old. From zero to 10 years old, fully whatever "regular" is, my myelin, my neurologic connections, they weren't showing any signs of complications or anything like that. I'm just a regular kid trying to figure out a kid's body, right?

Dr. Nath:
Right.

Jamal Hill:
When I turned 10, at this time, I have been swimming from that mommy and me class into swim lessons, into swim team. I'm a young, competitive swimmer at this time. For the older audiences, not too old, but people who grew up in the '80s, I'm like, you guys know Lethal Weapon, right? Mel Gibson.

Dr. Nath:
Yes.

Jamal Hill:
He could pop his shoulder.

Dr. Nath:
Oh, yeah.

Jamal Hill:
He could dislocate that shoulder in Lethal Weapon, right?

Dr. Nath:
Yeah.

Jamal Hill:
He would just bang it against the wall. That was me. I could pop my shoulders in and out of socket. It was painless. But one day after practice, I'm showing my dad this and he's like, "Yeah. That's funky, dude. That's not right. We should probably go and get that checked out." Maybe it wasn't the first full on sign of Charcot-Marie-Tooth, because those two haven't been fully linked, but it was the first sign that my body was going through changes that were ultimately going to impair my ability to move on a longer term scale.

Jamal Hill:
At the top of my 10th birthday, I was pulled out swimming completely. The doctor said, "Hey, this shoulder dislocation is pretty bad, dude. If you don't stop swimming, we're going to have to amputate your right arm."

Dr. Nath:
Oh. Oh, surprise. Oh, boy.

Jamal Hill:
What a surprise. Yeah.

Dr. Nath:
That's some news right there.

Jamal Hill:
Definitely. Again, me as a child, I'm thinking in my mind, seems a bit drastic. But my parents, I don't have any children at this time, so I tread lightly with this. But hearing that as a parent, they're like, "Okay. Well this is a no-brainer. You got to stop swimming because this is going to mess up your arm. You're going to end up losing it according to this professional here." My right arm goes into a sling. I'm right-handed. Now, I'm back in school.

Dr. Nath:
Oh, geez.

Jamal Hill:
I'm working the ambidextrous angle and that was the first sign, I guess, that again, my body was starting to change a little bit. It really didn't come around full circle until later that year. My right arm recovers, it's out of the sling, always remaining active. Both my parents are athletes, so I've always just been, go, go, go, go, go, go. The only time that I played video games as a kid really were on the weekends. It's always go, from school to after school program, to sport, to homework, to bed, and do it again.

Dr. Nath:
Whew.

Jamal Hill:
This is around maybe January, February of my 10-year-old life. Later that year, Thanksgiving of my 10-year-old life, I live in Los Angeles, we go to Thanksgiving out in Ventura. We're driving out, though. I'm in the back seat. I fall asleep in the car. My arm falls asleep. No big deal. I won't say most because I'm learning that is actually not something that happens to a lot of people. If your limbs are falling asleep, then your experience is some type of neurological problem. Again, you're the doctor, so you can speak to that more, but I'm learning about this.

Dr. Nath:
Yeah. Absolutely. That could absolutely be a first sign if they're falling asleep probably more than just occasionally.

Jamal Hill:
Yeah.

Dr. Nath:
Yes. Yes. Yes.

Jamal Hill:
It had fallen. Things had fallen asleep before. Just sitting as a kid, you sit too long more times than not. But again, I'm thinking this is everyone's experience. My shoulder, my arm falls asleep in the car. I wake up, get out, go to play with my cousins. My right arm is still asleep. Okay. No big deal. It'll come back alive soon.

Jamal Hill:
But throughout the next hour, two hours, before we sit down for family dinner, I feel increasingly lethargic. I'm feeling tired and it feels like this numbness, this sleepiness that's localized in my right arm, it's spreading. Now, I feel it a little bit in my left arm. We sit down for Thanksgiving dinner and my body is there, but I don't feel it, as weird as that may sound.

Dr. Nath:
Oh, wow.

Jamal Hill:
I lean over to my dad and I'm like, "Hey, I can't even pick up this fork right now." I end up having to be picked up, carried to the car. We don't eat Thanksgiving dinner with the family. I get taken to the nearest hospital, put into a CAT scan. CAT scan result, again, for something like neuropathy is inconclusive.

Dr. Nath:
Exactly. Yeah.

Jamal Hill:
From there, from this local hospital in Ventura, I was immediately taken over to Children's Hospital of Los Angeles. It's a lot. It's a lot. We go from there and then again, end up becoming admitted, these daily trips to the MRI machine. That was its own struggle on however many times we did that a week, but it ended up coming out again, that I did have Charcot-Marie-Tooth. That it was hereditary neuropathy.

Jamal Hill:
It came down the line to where the doctors made the diagnosis and they're talking to my mom, and they're talking about how we're going to let Jamal know. True story, my mom says to the doctor, "Do not say anything to Jamal about this. If you say anything to Jamal about this, I will come back to this hospital, I will find you, and you will not like what happens next."

Dr. Nath:
When did they tell you?

Jamal Hill:
Yo. Obviously, I'd had this experience. I knew how this was happening. For three days, for three days, I'm in pretty much a fully paralytic state. I can talk and I can move my head. I can feel external sensory, but I can't lift my arms. I can't walk for about three days. Then after this inflammation declines, I'm left in this new space where there's 0% nerve capacity from my kneecaps to the soles of my feet, so I'm having to relearn how to walk essentially. Then there's 30% nerve capacity from my elbow to my fingertips, so I'm low key having to learn how to hold things again and things like that.

Dr. Nath:
Oh, my goodness.

Jamal Hill:
I've had this experience. I know this has happened. Just to answer your question directly, I don't actually get it. This happened at 10 years old. I don't actually have a name to attach to my life in this story until I'm almost 21, 22 years old.

Dr. Nath:
No way.

Jamal Hill:
Way.

Dr. Nath:
Your mama kept it a secret for 11 years?

Jamal Hill:
11, 12 years. Yeah. It was like a family secret. Yeah. It was like me, my mom, my dad, the few uncles that were there and the reason behind it. Again, everybody's going to do what they feel is right for their family and what they feel is in the best interest of their child. I'm not saying that this is right or wrong. For me, it has appeared to work out. For other people, it would not work out that way.

Jamal Hill:
But full transparency, for her, it was just a matter of like, look, this is a young Black man growing up in America. As the mother of me, she's like, "Look, he's already going to have enough challenges. I don't want him buying into all of the limiting things that he should not be able to do or become." Some textbook says that no, he can't do these things. That was the motive behind ultimately keeping that as much in secrecy or just off the table as possible.

Dr. Nath:
I can see where she's coming from with that. What did you know then? You knew something was up and I guess you just didn't have a name.

Jamal Hill:
I just didn't have a-

Dr. Nath:
It was just that funny thing happening to Jamal?

Jamal Hill:
That's it. Really, it's this funny thing that was happening to Jamal. I got this brand new body and again, this one works not as well as the last one I had. I know that much. The last one I had, I could jump pretty good. I was pretty good at running. Now, this one, I'm 6'4 to this day. I've never dunked a basketball and it's not because I don't work out.

Dr. Nath:
Yeah. Yeah. Exactly.

Jamal Hill:
I just was not able to generate that type of lift off my lower legs.

Dr. Nath:
Did you feel grief or were you too young to really put together, alright, this is the new normal, this is it, here's what I've lost?

Jamal Hill:
It is interesting that we're having this conversation at this time, just because recently I've been doing a lot of emotional, mental, psychological work, deep healing work as an individual and going back into childhood traumas, which I think is something that every person needs to do.

Dr. Nath:
That's so cool.

Jamal Hill:
And unpacking that. Am I sure that there was grief that I felt in my heart, sadness, anger, fear that I felt in my heart, in my spirit? Of course. It would be almost inhumane for me not to. However, was my outward expression probably one of like jovial spirits, one of confidence, one of a lack of fear? Yeah, it was and that was something that I felt like I needed to do for the people that were there. I needed to be that for my mom.

Dr. Nath:
I see.

Jamal Hill:
I needed to be that for my dad. I needed to be that to continue to make sure that they were going to be okay. That's what kids do. Kids may not have the words to express it or understand it, but at an innate level, they do it because that's like this feedback loop. As long as I keep you safe and I keep you feeling like everything's okay, I continue to receive the love that I feel like in some ways it's attached to that. Yeah.

Dr. Nath:
Kids feel it. You knew something big was up.

Jamal Hill:
Oh, for sure.

Dr. Nath:
But you stayed resilient.

Jamal Hill:
That's it, man. Yeah. I stayed resilient and so came back to life and now again, nothing really looks too different. It's not like I fit this stigma. Again, the larger neurological disorder community, for the most part does not fit the visual stigma of individuals living with disability. More or less, we fall into this invisible spectrum of disability. Well, you're not blind. You're not missing a limb. Maybe you have a cane. Maybe you have an AFO or some type of support, but more or less from that age, from 10 years old on through high school, middle school, it was always just a matter of, I'm not going to be making excuses, right?

Dr. Nath:
Yeah. Mm-hmm.

Jamal Hill:
Again, it had some really powerful, good benefits, but also everything is in duality. There were some things that I was carrying mentally, emotionally that later I would have to overcome, because I was ultimately like, I was shaming this disability. I'm like, "No, I don't have it. I'm never going to acknowledge it." If it ever comes and faces me, I'm just going to be like, "I'll try harder."

Dr. Nath:
Yeah. It's really interesting that you say that. That resilience and that hardheadedness that you talk about, it's like a two-sided coin. On one side, it allows you to achieve incredible things, and on the other side, there's the broken pieces inside that you have to go back and fix later. I'm glad that you speak about that, because sometimes when we see people with disabilities doing incredible things and we want to make them our heroes without really addressing, oh gosh, there's some pain in there that person might need some help with.

Jamal Hill:
Oh, yeah. For sure. 100%. Like you just said, you see the champion, you see the hero. You have CNT. You see Jamal like, "Oh, this dude's walking without an AFO. Oh, this dude just won a Paralympic medal." That's where the story stops for you, and of course it does. You don't know anything else.

Dr. Nath:
And we want heroes.

Jamal Hill:
We want heroes.

Dr. Nath:
Yeah, we do.

Jamal Hill:
We want heroes. 100%.

Dr. Nath:
Yeah.

Jamal Hill:
Yep.

Dr. Nath:
I'm curious. After you had what you call your new body, where you have new weakness in your arms and legs and you relearn to walk, and you need sometimes some special devices to help you walk. How long after that did you start swimming again?

Jamal Hill:
I didn't start swimming again until I was a sophomore in high school. So about five to six years.

Dr. Nath:
Oh, so a number of years?

Jamal Hill:
Yeah. It was like five to six years. I always loved swimming. I had to stop because of this injury once upon a time. Again, like most people, when you're good at something, you want to do that thing. I had this fantasy of like, well, the last time I swam, I was a beast. I was winning all the most valuable points trophies. I was doing all these things. Yeah. I picked it back up. I was playing basketball at that time, so I played the basketball season.

Dr. Nath:
Oh, wow.

Jamal Hill:
And then I went straight into swim season after that.

Dr. Nath:
Did you have physical therapy or anything like that?

Jamal Hill:
No. No physical therapy ever, actually. In the hospital, when I was really just first getting back onto my feet, yeah. But after that, no, we actually never really had any physical therapy. Yeah. Again, I think part of it was just the power of the mind, the power of the spirit, the power of the ego. Even when channeled sometimes can be really ... It's some powerful stuff. Again, it has a duality of consequences, both positive and negative.

Dr. Nath:
Yes.

Jamal Hill:
Yeah. That's the road it led me down. Even, like I said, as a kid growing up, I just refused. I always still wanted to be the cool guy. Playing basketball, all the low top sneakers were the one that looked the best, so of course, I want the low top sneakers.

Dr. Nath:
Oh, but the high top sneakers are better support for your ankle.

Jamal Hill:
Yeah. Of course. Right. We all get it. I knew, I understood that wearing ankle braces, right?

Dr. Nath:
Oh, this is so tragic for me.

Jamal Hill:
The fourth ankle is the right, but it's the fourth ankles. Yeah. My daddy would get so annoyed and angry with me because it just like, we would have these conversations over and over again, but I'm still going to do what I want to do. I would go out there. Oh no, everything's good. I'm stronger, I'm better. Jogging down the court, trip over my own foot, twisted ankle severely. But it's like I endured a lot of pain. Willingly endured-

Dr. Nath:
Yeah. I can imagine.

Jamal Hill:
... a lot of pain. Sometimes just through arrogance and ignorance, and then sometimes just through like, I just feel like this is what I have to do. To give you one example of that, I've started swimming as a high schooler. Again, I'm not at a high level. I built it up through my year in high school. Maybe I'm swimming five months out the year. I go to a division three college to swim again. Nobody knows about Charcot-Marie-Tooth. There are different questions here and there. Well, why can't you do this? Why can't you do that? "I don't know, Coach. I'll try harder." I never explained.

Dr. Nath:
Oh, boy. Oh, this is all with able-bodied swimmers?

Jamal Hill:
All with able-bodied swimmers, 100%.

Dr. Nath:
Completely? Oh, wow.

Jamal Hill:
Yes.

Dr. Nath:
Okay.

Jamal Hill:
All this, like any sport, I was never in this disability category. Yeah. It's all 100% with able-bodied athletes.

Dr. Nath:
Oh, man.

Jamal Hill:
There comes a point after college now where I have this coach and we're working together for a year, and she comes to me one day and she says, "I look at the way that you try and dive off the blocks. You don't really dive. It's like you fall in skillfully. I look at the way you climb out of the pool, like you pick up your freaking legs to put them on the ground. The way you spin your legs out of the car to stand up, you remind me of some of my cerebral palsy patients that I used to work with." Out of 12 years, that was the first time I had ever felt truly seen.

Dr. Nath:
But that was a very astute observation.

Jamal Hill:
Yeah. Oh, yeah. For sure. Still, my coach to this day. Best coach in the world. I won't let her go.

Dr. Nath:
Oh, wow.

Jamal Hill:
Wilma Wong. Shout out to Wilma. But yes. I'm like, actually it's funny that you say that, I got this thing going on. I understood more or less what my experience was. Again, that led us to test and understanding scientifically what my nerve capacity was, well, the name of these three scientists, things like that. As we're working together and I wanted to become an Olympic swimmer at that time, we had to backtrack to this cognitive dissonance and identity of Jamal was like, well, if we can't solve this, maybe the Paralympics is going to be the path. That was its own little mini story line of working through the shame, working through being considered a liar, working through not being accepted.

Dr. Nath:
Oh, no.

Jamal Hill:
Working through not being loved, working through being seen as less than, all these things.

Dr. Nath:
No. Oh my goodness.

Jamal Hill:
You go through it. Most people won't even learn anything about themselves because it's a painful process and it's scary.

Dr. Nath:
What do you want to tell our listeners out there, who may be kids, who may be going through a medical change or who might have a neuromuscular disorder? Is there anything you want to tell them?

Jamal Hill:
Yeah. Absolutely. The biggest thing I could tell you is that whatever's changed in your body has not changed just how amazing and big your future can be.

Dr. Nath:
Awesome.

Jamal Hill:
That's the main thing. Even the people that we think are winning, the people that we think are heroes, everybody's got a challenge that they're facing. Ultimately, it's going to come down to, do you think that challenge is too big to overcome? If you think it is, well, then that's going to be ultimately what your life starts to shape around. If you think it's not, guess what? That's what your life is going to begin to start to shape around.

Dr. Nath:
Yeah. Exactly. Exactly. Yeah.

Jamal Hill:
Always respect your body. That's something that I've come to learn now in my late 20s, my mid 20s; respecting my body. It does have limits that I need to honor. There have been times where I literally ran the soles off of my feet. I ran the soles off of my feet.

Dr. Nath:
Oh, geez. Yeah.

Jamal Hill:
Because I'm trying to train my feet to not be curled up. Just absolutely insane things that I've done to be here at this point. I'm not saying you got to do those things. I'm actually probably saying, maybe don't do that.

Dr. Nath:
Yeah. That doesn't work.

Jamal Hill:
Maybe don't do those things.

Dr. Nath:
Please don't do that.

Jamal Hill:
Don't do those things. But just to say that at the end of the day, there are people, their dreams are taking them to Mars. I say that to say that whatever dream you got, trust me, it's not crazy, so don't call it crazy. There are people going to Mars, dude. That's crazy.

Dr. Nath:
Well, I want to hear about your Mars actually, for our kids out there who may have conditions, just to hear about it. What do you think was the most memorable thing that happened at the Paralympics for you?

Jamal Hill:
The most memorable thing to happen at the Paralympics for me was when I finished the race, and this transcends disability, ability, age, gender, creed. I finished the race. And if anyone has ever seen swimming at the Paralympic Olympic games, they touch the wall, they spin around more fast to look at the clock, right?

Dr. Nath:
Yes. Uh-huh.

Jamal Hill:
When I touch the wall, I don't spin around.

Dr. Nath:
Oh.

Jamal Hill:
I pause for a moment. My peripherals work so I can see the guy to my left. He beat me to the wall, so I know I didn't come in first. Now, it's possible I either came in anywhere between second to eighth place. Completely possible. Or second to at least seventh place because I know I beat the guy on this side of me. When I touched the wall, I just took a moment. I knew a few things. I knew number one, at that point in time, regardless of whatever the clock said, I knew that had to be probably one of the best swims I'd ever done in my life, technically.

Jamal Hill:
I knew that everything that I could control ... because you can never control who wins. You can't control however anyone else swims. But I knew of the things that I could control through that race, I had executed it to a really high degree and I just took that moment to be proud of myself. I really didn't even plan on turning around and looking at the scoreboard at all, because I didn't want that for me to be validated or invalidated by the result. Either way, that was probably the most special moment for me. Just having that time, those 10, 15 seconds of like ...

Dr. Nath:
Oh, wow.

Jamal Hill:
... dude, I'm proud of you. You made it here. You had the moment of...

Dr. Nath:
Before you even turned around.

Jamal Hill:
Yeah. I've arrived and I did it.

Dr. Nath:
Oh, wow.

Jamal Hill:
I care, but whether I came in second or seventh place is irrelevant. I did the best I could do and that's all that matters. Yeah. I planned on leaving the pool and not even checking the times until I got backstage. But then I could hear one of my teammates calling my name. If there's one thing that I do know, listen, if you didn't get top three, nobody's calling your name at the end of a race. That's just the reality of it. That's just the reality of it.

Dr. Nath:
See it, a heads up.

Jamal Hill:
Yeah. That's just the reality. If you're not top three at the end of the race, oh, nobody's calling your name. They're calling my name. I'm like, "All right, probably a good sign." I turn around and look up and there it is. New American record, Jamal Hill, USA flag represented, the only swimmer in the heat representing our country. Third place, bronze medal. Like I said, winning the medal was cool. It was more than cool.

Jamal Hill:
I don't mean to belittle that, but whether I had walked away from those games with or without a medal, I was going to be happy with my performance that day. I was going to be proud of myself. That was the biggest moment, and that's what I would tell anybody that you got to have goals, you got to have dreams. You got to go after things, but you should never be seeking validation through achievement. You should never be seeking validation through other people's opinions of you.

Jamal Hill:
Any sense of validation needs to come from within, and that's the only way that it's going to be true. That's the only way that it's going to be sustainable, and ultimately that's the only way that you're going to learn to appreciate who you are as a human being and what you have to offer this world outside of something physical or material.

Dr. Nath:
That's right. That's true for everything in life.

Jamal Hill:
Yes, ma'am.

Dr. Nath:
Thank you so much. Our listeners may want to find you and your organization, Swim Uphill. How can they find Swim Uphill if they are interested in learning to swim?

Jamal Hill:
Yeah. For sure. You can find Swim Uphill. Just go to swimuphill.org, swimuphill.com, they all take you to the same website. That's our Swim Uphill site. Send us an inquiry via email. To reach out to me, I am Mr. Swim Uphill. Just hop on any social media channel, from TikTok to Instagram, to Facebook, to YouTube, at Swim Uphill, all one word, no special characters, and you'll be connected with Jamal Hill directly. Any professionals out there, reach out to me on LinkedIn, Jamal J. Hill on LinkedIn, and that's my spiel.

Dr. Nath:
Awesome. We could put some of that in the show notes too. Thank you so, so much for joining us today.

Jamal Hill:
You're welcome, Dr. Nath. Thanks for having me. Look, I got my Brain & Life Magazine right here. I wish you all could see it, but it's here with me during the show. I'm a big fan.

Dr. Nath:
He is holding it.

Jamal Hill:
Big fan of your platform and the insight and value that you all bring to the greater community here. It's an honor to be on and I hope to be back.

Dr. Nath:
Thank you so much. Is there a neurological condition you want to hear more about on the podcast?

Dr. Correa:
Are there questions you have about living with and thriving with one of many neurologic conditions?

Dr. Nath:
We want to hear from you. You can call in any time and record a question at 612-928-6206.

Dr. Correa:
We're excited to start answering and taking your questions and feedback. You can also email or record an audio message and send it into blpodcast@brainandlife.org. And of course, you can reach Audrey and I on social media or the Brain & Life team at Brain & Life Mag. That's M-A-G.

Dr. Nath:
To learn more about Charcot-Marie-Tooth, CMT, or hereditary motor and sensory neuropathy, I caught up with Dr. Reza Seyedsadjadi, a neuromuscular neurologist who is an Assistant Professor of Neurology at the Harvard Medical School and the Director of the Charcot-Marie-Tooth Center for Excellence at the Massachusetts General Hospital. Welcome to the podcast.

Dr. Seyedsadjadi:
Thank you. Thanks for the invitation.

Dr. Nath:
Can you tell us in general terms, especially for our listeners who may not have heard of CMT before, what is CMT?

Dr. Seyedsadjadi:
Charcot-Marie-Tooth diseases are of neurological disorders, the most common hereditary neurological disease affecting peripheral nervous system. It is estimated to affect more than 100,000 Americans at least, and different mutations can cause different types of CMTs. With the most common type about two-third of patients carry a pathogenic mutation or duplication of PMP22, which causes a demyelinating type of neuropathy called CMT type 1A.

Dr. Nath:
Essentially some people may have this disorder who have other family members who have it, and then some may get it out of the blue, so to say.

Dr. Seyedsadjadi:
Correct. Most CMTs are what we call as autosomal dominant, meaning that a patient with CMT has 50% chance of passing along the gene to each child. Some patients may have what we also call as a de novo mutation, where they do not necessarily inherit the gene, but the genetic mutation occurs in earlier fetal stages.

Dr. Nath:
Okay. When we spoke with Jamal Hill, the talented Paralympic swimmer who has CMT, he was telling us about how, when he was growing up as a toddler, a little kid, that his motor skills were fine. He presented with an acute attack of really significant weakness around when he was 10, and that's when this all started for him. Is this how CMT usually presents or is there kind of a range?

Dr. Seyedsadjadi:
That's a good point. There is a range most patients often present with early onset difficulty with walking and imbalance. Patients have some degree of foot drop and hand weakness. Some may have milder disease and barely noticeable weakness, and others may have more severe manifestations, may need assistive devices for ambulation. It's important to know that some patients may have a very early onset and some others may not have many manifestations of the disease until late adulthood.

Dr. Seyedsadjadi:
Especially in children, it is not uncommon to hear that things happen in a more acute or sudden fashion. Often, patients have to go through a series of investigations to figure out if this is an acquired process, some inflammatory neuropathy, like CIDP, chronic inflammatory demyelinating polyneuropathy, or Charcot-Marie-Tooth disease. Earlier onset, especially if it is acute, always merits further investigation, but it can happen in the context of Charcot-Marie-Tooth disease.

Dr. Nath:
Just so we all understand, in Charcot-Marie-Tooth, CMT, there's the nerve and then there's myelin around the nerve. What happens to the myelin around the nerve, and is that what causes the weakness?

Dr. Seyedsadjadi:
That's a great point. I'm not sure if there is a perfect answer for this, but different mutations may affect different parts of the nerve. Some mutations affect the nerve cell body, some mutations would affect the axon or what you call as the wire, and some mutations would affect the coating of the wire or the myelin.

Dr. Seyedsadjadi:
The most common type, which is CMT1A, there is a disorder or problem with the myelin sheet, which slows the conduction of the nerve. But ultimately, all of these would affect the function of axon, which is what leads to the weakness. At the end point of it is very similar. That's why, patients with CMT, they may have different mutations, but more or less, the clinical presentation is very similar.

Dr. Nath:
Does physical therapy help in terms of having a better gate, or strengthen the muscles that can be strengthened?

Dr. Seyedsadjadi:
Exactly. Actually, the main emphasis of physical therapy is usually on core strengthening and balance training. You would use the compensatory muscle action to fill in for the sensory gap that you have as a result of lack of sensation from the feet. That in conjunction with bracing or using ankle foot orthotics can help patients maintain a better balance, and over time, have less at least orthopedic or arthropathic complications.

Dr. Seyedsadjadi:
Meaning the things that are happening in the transfer of the power to the ankle and to the joints is more evenly distributed and there is less chance of having damages. Now, these also can help with lengthening of the Achilles and also some of the stretch exercises that are also crucial to maintain or try to slow progression of distinct changes in the foot shape.

Dr. Nath:
That's interesting. In some ways, it's like relearning to walk with less sensation, but training your body to have a new way of walking, which is really interesting. Do you have many patients that participate in athletics?

Dr. Seyedsadjadi:
Interestingly enough, some patients find athletics very rewarding.

Dr. Nath:
Oh, cool.

Dr. Seyedsadjadi:
I have CMT patients who run, who bike, and who swim really well. I have actually a couple of patients who are very good professional skiers.

Dr. Nath:
Oh, my goodness. Thinking about skiing, you really need ankle stability with that, but I suppose the boot that you wear when you ski might actually help.

Dr. Seyedsadjadi:
Exactly. That's-

Dr. Nath:
I hadn't thought about this before.

Dr. Seyedsadjadi:
Exactly. That's exactly sometimes what I do see in clinic.

Dr. Nath:
You're in Boston, right? There's skiing nearby.

Dr. Seyedsadjadi:
Yeah. No. No. That's exactly the example I sometimes use in clinic where people are familiar with the concept is that skiing, you are relying on your center of gravity and the feedback that you get from your ski boots, like a more simplified way of explaining dynamics of it. Even if you have CMT, you can rely on your center of gravity and you can still ski.

Dr. Nath:
What do you think are the goals of therapy? If you're meeting a new patient, what should they expect as they move forward?

Dr. Seyedsadjadi:
The first step usually is the teaching about mechanics of walking. It's what exactly we discussed about the importance and the role of core muscles in maintaining balance, and adaptive ways that patients can learn to rely on sensory information from their muscles, to be able to maintain a better balance and reduce the risk of fall. Then sometimes we work with patients to learn to walk with ankle foot orthotics and do some physical therapies to specifically address those muscles that are weaker. That can help them ambulate better and reduce the damage or chronic damage that happens to the knees, hip, and low back.

Dr. Nath:
What do you see coming in the pipeline in the future regarding CMT research and potential therapies?

Dr. Seyedsadjadi:
Over the past decade or so, there has been a huge change in awareness about Charcot-Marie-Tooth disease; genetics and therapeutic efforts. There are a wide range of efforts in both gene therapy, small molecule, and even regenerative medicine options that are now being in the research, like a preclinical stage. There are few studies that are actually in early clinical stages for CMT1A for instance.

Dr. Seyedsadjadi:
But from what I see over the next few years to a decade, there will be an explosion of number of studies that will become available for different types of CMTs, because each disease has different pathophysiology. Most of them have people who are invested or are interested in doing research and are working on developing therapies and therapeutics for.

Dr. Nath:
Out of curiosity for our listeners, are there clinical trials happening in different cities of the US, just off the top of your head?

Dr. Seyedsadjadi:
Yes. Actually, the most clinical trials in rare diseases, which Charcot-Marie-Tooth is still considered a rare disease, usually require multi-site effort because there's no single site that can recruit enough number of patients to be able to prove a concept, or an efficacy of a clinical trial or even a safety. For more common types of CMT, there are at least, I think, two treatments that are being done, clinical trials that are being done right now in the United States, and many more to come.

Dr. Nath:
For any patients or families out there listening, who may have just received a diagnosis of CMT, is there anything you would like to tell them?

Dr. Seyedsadjadi:
I think the future is bright. With what is going on in terms of clinical efforts and research, I think we need more people to help us with this. We need them to be involved and advocate for the research for the clinical care. There are some things that we can already help with even without therapeutics, but the more we are, the stronger we are.

Dr. Seyedsadjadi:
There is a network of research and clinical centers here in the United States and internationally called Inherited Neuropathy Consortium that within the context, do a lot of collaborative research and clinical effort to one, advocate for research and resources for patients with CMT, and advanced research in that field.

Dr. Nath:
Wonderful. Thank you so much for joining us from Boston today.

Dr. Seyedsadjadi:
Thank you.

Dr. Correa:
Thank you for joining us today on the Brain & Life Podcast. Follow and subscribe to this podcast so you don't miss our weekly episode. You can also sign up to receive the Brain & Life Magazine for free at brainandlife.org.

Dr. Nath:
Also, for each episode, you can find out how to connect with us and our guests, along with great resources in the show notes. You can also reach out by email at blpodcast@brainandlife.org. We are your hosts.

Dr. Correa:
Daniel Correa, joining you from New York City and online at Neuro Doctor Correa.

Dr. Nath:
And Audrey Nath, beaming in from Texas, and on Twitter at Audrey Nath MD PhD.

Dr. Correa:
Thank you to our community members that trust us with their health, and everyone living with neurologic conditions. We hope together, we can take steps to better brain health and each thrive with our own abilities every day.

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Paralympian Jamal Hill on Winning Bronze with Charcot-Marie-Tooth

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