The Medical Detectives - Catherine's Story: The Cost of a Cure

Episode Date: July 23, 2025

This emotionally powerful episode of The Medical Detectives follows Catherine, a devoted mother and academic, as she shares the gripping journey of seeking answers for her young son George’s mysterious motor delays. What begins as a typical birth story slowly unravels into a harrowing diagnostic odyssey marked by missed milestones, medical gaslighting, and a mother’s unwavering instinct that something more serious was wrong. After years of uncertainty, George is diagnosed with a rare neurological disease—CMT4C—for which a gene therapy already exists, but lacks funding for clinical trials. Catherine courageously recounts the highs and lows of her family’s fight to secure treatment, her viral advocacy on TikTok, and her mission to change the system that leaves rare disease patients behind. It's a story of maternal love, persistence, and hope, and a call to action that could change lives.Interested in donating to Catherine's campaign? Click here to make your contribution! Have a medical journey to share? Email us at [e-mail]. ***The information provided on the medical detectives is for informational and entertainment purposes only and should not be considered medical advice. While we may feature licensed medical professionals, including doctors, we are not your personal doctors and no doctor patient relationship is established by listening to this podcast or interacting with our content. All discussions are general in nature and may not apply to your specific health situation. Always seek the advice of a qualified healthcare professional before making any medical decisions or taking any action based on the content of this podcast. Never disregard professional medical advice or delay seeking treatment because of something you have heard on this show If you are experiencing a medical emergency, please contact emergency services immediately or consult a qualified healthcare pro***

I cried during this episode. Maybe we start there. Get ready for tears. Get some Kleenex. This interview is really special. It's about a child and a mom fighting for her child, which I feel like are always, you know, as a mother myself really get to me.

But I think a lot of you may recognize her once you start listening to her. And as the story goes on, you'll know why. Maybe a little TikTok famous, just like maybe. I will also say a lot of you have always been asking like how can we help support the show and just a little reminder if you didn't know drop us a review, leave us comments that's like positive support for us to keep going. It also helps the social media daddy as I like to call him suggest our show more. So leave us a comment, drop us

a review and if you have a story of your own, Erin, what can they do with that? Email us at stories at TheMedicalDetectivesPodcast.com. And with that, let's get into it. Hi, Catherine. Thank you so much for joining us on The Medical Detectives. I'm thrilled to be here. Thank you. Catherine is joining us on behalf of sharing the story about her son, George. And before we get into it, I'd like to learn a little bit more about you and your background and your pathway to becoming a mom? Of course, yes.

Well, I have spent my entire professional life in academia. So I was determined to wait until I was done with my PhD before starting a family. My husband and I had been married for seven years, almost seven years, but then we had this beautiful surprise of our first child and it was a big shock, but it was also like, I mean, COVID happened right in the middle of this pregnancy.

So it was kind of incredible timing that everything in academia switched to remote anyway, right on the brink of me becoming a mother. So I thought, all right, there's a way for me to make this work. And the pregnancy was tough the way that pregnancy can be, but medically normal, except for two things. One was a slightly elevated amniotic fluid level.

And the other was he was in a breach position from his 20 week anatomy scan and did not budge for my whole third trimester. And I have since learned the consequences, the implications of that and how they've become relevant. But amazingly, three days before I went into labor, which never happens, he flipped just by doing the spinning babies program. I was supposed to go in for the whole version to see if they could flip him. But normally that sends babies into distress and you go into emergency C-section. But I just waited till the last possible minute to do that.

And then he just spontaneously turned head down, which was kind of a miracle. So the baby spontaneously flips. And so now you are expecting a normal vaginal delivery. How does everything go in the delivery? So we were living with my brother who was about an hour away from the hospital. And so because we were a little bit far, I was kind of nervous about getting to the hospital because the only birth I'd ever witnessed is in movies, which is like, there has never

been a movie made. Hail the taxi. Exactly. As my water's breaking in the streets of New York City, you know. So we, yeah, so I just got, started getting little mild contractions around midnight, tracked them all night long. I was just a little nervous, took a shower, and then they started getting really close together.

Because I was an hour away from the hospital, they weren't that strong. So I was like, maybe I'll just be one of those women that has the pain-free birth. And there's a- Fet chance. Because you hear about this stuff on social media that it can happen. So I had contractions super close together, but not a lot of pain. So I was like, we better go. I'm at like a minute apart on these contractions with an hour drive. So I was like, okay, I heard I was supposed to be in screaming pain, but let's do this.

So we drive to Santa Monica and labor kind of stalls on the way. And then, so I actually got out to do a hike. We were driving through Malibu on the way. We like do this little hike in Malibu. And I had this really beautiful moment with my husband where I just realized like our whole life is about to change. Oh my gosh, I haven't thought about this in years. But I just, we're, we're walking on this little, this little very easy hike. It's not steep just to kind of move around a little bit. And I just remember looking at him and thinking, I've had a really good time with you when

it was just us these seven years and knowing that everything was about to be this huge adventure and our relationship was about to change so much. So we had this incredible connection experience as we were 10 minutes away from the hospital. So contractions kind of pick up again. We get in the car. It's a beautiful day in May. We get in there and then it's like full COVID policies that we walk into. And so our beautiful moment, I was really happy we had that before we got to the hospital because as soon as we pull in to the parking garage, it's just like, how many backpacks are you bringing and what people are allowed?

And once you cross this threshold, you're never allowed out unless you have a baby in your arms. And the tone just totally shifted to be the stress that we all remember from May of 2020, you know, and husbands weren't even allowed or in the room for deliveries until like five days before I went into labor. So this whole time,

I thought I was gonna be doing this alone. And at the last minute, they made the change for partners. You have one support person come with you. So anyway, walk in, I'm like, get in there thinking, I've been in labor for so long, my contractions were so close together. This is a very common story. I get in and I'm like one and a half centimeters dilated. And so they're like, fine, we'll admit you because you drove a long way and we have room for you, but it's going to be a long wait. How much do you have to be dilated before you can get admitted normally? It varies a lot. They mostly just want to see that things are really active because there are women who

can hang out at three centimeters for a month before they actually go into active labor. It varies so much. There's women that go from zero to 10 and 20 minutes, which I had with my second birth actually, but there's people who just hang out for days and days, barely dilated at all. Or if your water breaks, you have to be admitted for risk of infection. So the criteria for admission varies. Yes. So they let me in and then I was, I really wanted to have a low intervention birth.

So I wanted no epidural because my whole personal history with medicine was just like, I'm allergic to every antibiotic under the sun. I've had lots of like adverse reactions to things done to me in hospitals and doctors offices. And so if I can avoid it, I will. If we can do this without any medical contact, that's how I want to do basically everything. And I really went into birth that way. And then basically, as surprisingly to everybody,

because everyone thought I was going to hover around, not really in labor all day, I just like instantly went into active labor and it was painful beyond my wildest dreams. Like I think that everyone goes into childbirth really afraid of the actual delivery and like you can tear, you can, so that is the end game. And when you have relief and like this is ending right now,

the mind piece of delivery is nothing compared to contractions. Oh my goodness gracious, so painful. So we were doing everything that could be done. I mean, my poor husband, he read this. He read to prepare this book called Husband Coached Childbirth, which we can just pause for the title of that book for a minute.

I'm just going to throw this out there. Trash and I love it. I feel like that should be read in a pregnant woman's group as a satire. Maybe we should create an account on social media just to read aloud. Look what this male doctor thinks that husbands are able to offer to their wives during childbirth. I remember my husband, I remember this so vividly, he had the audacity to eat in my presence while I was in labor. And I remember him taking a little packet of mustard and putting it on a burger, like four feet from my person.

And I was like- The condimentation of the- Yes. I was like, do you remember not two hours ago when we were weeping on a trail in Malibu overlooking the ocean talking about our love and here you are putting mustard on your burger. Anyway, yes. So then basically after 18 hours of labor, I was just totally wrecked and the pain was insane and I had this nurse get in my face and she was like, listen, I see this all day, every day

and you are not handling this well. And I was like, what? And she's like, you have a closing window to get this epidural. If you think this is painful now, you are not gonna wanna feel what happens next. So I was like, fine. So I had the epidural.

And so then it was like right before midnight, this nurse walks in, I sound asleep, and she's like, all right, you're out of 10, you're dilated, let's push out a baby. And I was so groggy and confused. I looked at her and I was like, you push out a baby right now. I feel like I'm very unready for this. But then I just started going back to this kind of like all this Instagram birth training I had been doing about like breath

work, how you breathe your baby out, this is how you manage pain and everything. And it worked. Like as soon as I started taking the, I know as soon as I started taking big deep breaths and not trying to push how you would picture it, but just like big breath and just try to relax everything that you can relax. It was like my second deep breath I timed with a contraction and my beautiful little child was just born all at once. So now I've delivered my baby and now here we're getting our first little whispers of what something might be going on. So he's like a big baby, big healthy, eight pounds one ounce, tall, long, healthy, plump little guy. And he instantly cried. They set him right on my chest right after he's born.

We have the skin to skin moment, you know, which is this huge release of oxytocin. It's like a high like, oh, there's nothing in the world like this high. It's just I mean, this is when you're like, wow, that was so awful. Oh, my gosh. I don't remember any of it because I'm so overjoyed right now. And as long as the baby was with me, he was just like everything perfect, like latching onto nurse right away, which was kind of a shock that they instantly did that. I was like, whoa, but you know, nurses helped them do that. And it like went great. And then after about maybe 45 minutes with me, they take him over to his little

bassinet just right next to me in the same room and start taking vital signs. So when he's over there and they're taking all of his vitals and stats, he had these weird spasms in his limbs, which can happen due to babies that have low blood sugar. And because they don't want you to eat when you're in labor at the hospital, that can happen. Like if I hadn't consumed any blood sugar at all for almost 24 hours at this point. And so maybe it was just that, but it was enough that they called in more nurses and then they called in the pediatricians. And then everyone just stood and observed him for a long time.

And I wasn't really worried because they weren't worried. And he had come out so perfectly that I was just sort of, I don't have any idea what's going on over here. And so then they say like, all right, we're noticing some strange spasms in his arms and legs, mostly his legs. And so then they would give it back to me. And then when he was with me, they stopped happening. And so they'd say, well, they can't be seizures because you can't suppress a seizure.

And when he's with mom, he's fine. But when he's over here, we get this weird spastic movement. So they send us back to the recovery room together where they wheel you in. And then he was in the little bassinet next to me and we're just so wrecked. And so he was totally passed out next to me. And then I was so destroyed. I also pass out and it's like three in the morning at this point. I've been awake for 48 hours, however long. And then I wake up in the morning when the sun comes up and there's no baby next to me in the bassinet. And I was like, is this normal?

And like we can't because they're so understaffed, again, because it's the height of COVID that we're like trying to call nurses. It's a long time before anybody comes in. And I was like, so I gave birth yesterday and don't have a baby here. Do you take them to the nursery or what is that? And they were like, oh, in the middle of the night, they had come and taken our child to the NICU and didn't tell us. Or maybe they did.

And we were so asleep that we'd like didn't, I don't know, but it was, it was very alarming. Yeah. I know. Yes. Send me a text. Yeah. I know.

Seriously. Yeah. Gone to NICU be back soon Yeah. Gone to NICU. Be back soon? I mean, I don't know. VRB. Yeah. VRB. Yes, I know.

Like a little baby waving, like, just going to get better. Yeah, like selfie with the NICU Bessonet, whatever. And so because of the COVID policy, we were not allowed to go at the same time. And so my husband and I had to, I really wanted to go immediately, but you're also, I did not know that with all the fluids they give you, you're so swollen. I could like barely walk on my feet. Like I couldn't, I had to wear my husband's shoes. My husband's like a big, giant man. And I was like waddling down in these, I could barely walk clinging to the railing to try to get to the NICU where my baby is. And then I get in there and I was like, okay, so why is he here?

What's going on? And then they said, you know I was like, okay, so why is he here? What's going on? And then they said, you know, we just had when that like a shift change had happened. And then the pediatrician who took over in the NICU had reviewed basically all of the notes they'd taken about these mystery spasms in the limbs. And so he wanted the baby in the NICU for observation. And so they had brought him in and then he was hooked up to just like a zillion monitors. But walking through the NICU, it was just all of these tiny little babies, tiny babies that are a couple pounds, some that had been there for a really long time.

And then you get to my Hercules at the end of the row. And I just would sit there, chain shifts with my husband. And then we were trying to get him out of there because they were like, we don't really see anything wrong, but we're just so alarmed by what was observed after birth and we're not seeing anything anymore. But I just had to sit there and just try to get a pediatrician to come sign off on him so that we could leave because there wasn't like, there was like, there's nothing we can do to be like treating him. Everything we've been observing looks normal. So you guys can go as long as you get checked out. But it took me like 24 hours to get

people over to do the necessary things like check off on the hearing test and check off on all these various things I have to do before they can release you. So take him home. And then baby has a totally normal infancy. Like he's rolling over right on track. He's like a champion nurse. I had this massive abundant milk supply. And so he was just like, his thickness just got right on track. He's like a champion at like, I don't know, 10 months. And then that is where his motor development basically stopped. And he could not stay standing without holding on to something for months. And a baby that pulls to stand is, you know, usually maybe like six to eight weeks away from walking. I mean, it varies so much. But typically a baby who's so interested in moving would want to start at least attempting, and he just couldn't let go of stuff.

And then it's like his first birthday goes by. Okay. And then he's 14 months. He still can't when he wants to explore, but we have to hold his hands to go everywhere. And it's like breaking everybody's back in my family because he's like so eager to be moving but he needs us to bend down his little height to be holding his hands so he can explore things. And then he's 18 months old and normal walking window is like 12 to 18 months

usually, and you, if you go beyond 18 months, you're still not walking independently, then you officially have a delay and it's time to intervene. And so I was talking to our pediatrician about it and she was like, well, if you get to the end of the 18th month and he's still not doing anything, then we'll maybe talk about physical therapy. But she's like, I've been looking at your child since birth. He is a healthy child. Like he is the picture of health.

And so talk if he was a crazy early talker, like words before his first birthday, super verbal, this kid can chat like to this day. So it was like, he's so charming. He's like, he's not sick. So the last week of the 18th month is when he finally walks independently. But the way that he finally did it was like, he's so charming. He's like, he's not sick. So the last week of the 18th month is when he finally walks independently. But the way that he finally did it was like,

he would almost start to lean like a tower and then could move his feet to like catch himself. And so it was this like slow motion fall basically that he could just get a couple more steps in before he would need to grab onto something. So he's just using like momentum and gravity to get across a room and always looking for something to hold on to.

I'm curious because a lot of other parents and family members often have a lot of comments about the walking and when are they walking. So what were some of the dialogue between your family and friends who are all well-meaning, right? But that you remember. This is the narrative that started around his first birthday that then has come up to present day, until diagnosis, basically, when everybody had to eat their words,

that every person was like, both of his parents are big nerds, as I have disclosed to you previously on this podcast. And he is just a little professor. And so he's not going to be athletic. This is no D1 athlete. We have like a little, my whole family is in aerospace engineering. So my dad and my brother have like a rocket science company.

Of course. Of course. Yeah. And I worked there for a long time in between my master's and my PhD. So he was just always seen as the little rocket scientist protege and this little professor, oh, isn't it so cute how he moves like a little old man? That's what everybody would say. And like people I barely knew would say this and people I knew really well would say this,

that like, oh, look at your little dork that you gave birth to. You cloned yourself into another little nerd. And then lots of like, oh, yes, I remember. I have tight hamstrings. So that's what this is. He inherited my tight hamstrings. That was a lot of what we would hear. And so a lot of well-meaning justification, and then a lot of kind of, oh, this can't be serious. And I mean, I was getting very alarmed. It's like, I am a, a very research oriented person. And so when I would look at what typical development should look like, I was like,

this does not look right to me. But then, you know, when your doctor is telling you the same thing that all your friends and family are telling you, like he's just a charming little brainiac who's not athletic. But because we got like technically the walking at the end of the 18th month, there was like no official delay. And so we just kind of moved on. And the biggest thing I noticed is that because this was also my first child, I didn't really have experience with

what typical motor development looked like. And so now having had two more kids, I know that if you have a baby that can't squat, like babies live in a squat, you know, and a lot of them when they're go to stand to start walking, they'll get into a squat first and then they like push to their feet. And then when they feel like they're going to fall, they just like squat back down, you know, they don't need to always be using their upper body to catch them. And I mean, both of my other kids have done that now where it's that whenever they're feeling, they just kind of get down. And George could never do that. And he had no flexibility in his hips or his hamstrings

or even his Achilles tendons at all to be able to get into a squat. And so he was always in this very rigid, like timber kind of position whenever he was falling. And that was super alarming. So I then, because I had felt kind of like dismissed by the whole allopathic world that he was fine and would outgrow it, I was like, okay, well then if it's not a condition, it's clear he doesn't feel good. So I'm going to try these more therapeutic approaches just to make moving be more enjoyable for him.

And that was my mindset for the next eight to 10 months, basically. And so then I started taking him to baby chiropractor. And I was like, why is he so tight? eight to 10 months basically. And so then I started taking him to baby chiropractor and I was like, why is he so tight? Could this be because, and this is a lot of theories, when I started now going down the kind of holistic non-medical response to what could maybe help him feel better in his body, you know, the chiropractor,

after my pediatrician was like, he's fine, he'll grow out of it. Then I went him to the chiropractor and she was the first person to say, this is very unusual to have a 20-month-old who has tight hips or tight hamstrings. She's like, babies are spaghetti. And she was like, this is interesting to me. So she would work on loosening up the muscles in his hips a lot. And then, you know, there was kind of this asymmetry in his lower back and his lumbar spine, and then a lot of tightness across

his shoulders because he was always trying to just grab onto things to support himself as he was moving through the world. So now we're just sort of trying to make him feel as good as possible by doing chiropractic. It was our first pathway to like understanding that this was the serious and it was the first person that really validated, I think that there was a condition that was much more than muscle tightness or spasm or inflammation or any of the things we'd been looking at previously. So going to this alternative treatment where you are feeling validated and you're seeing some sort of results.

So what is the next step in your path? So then because I had this sense of validation from this chiropractor and because I now have had my second baby who is just like the textbook typical child and he's not walking yet, but the way he moves was just totally different. And so it led us to believe that he was going to be like the next Michael Phelps or something because we're like, he's so athletic, infant, but, but then we learned he's really just doing the bare minimum. Yes, exactly.

He's just doing what babies do. So, um, parents are really funny. So that led us to go back to our pediatrician and request a referral to an orthopedist to just look at his bones and make sure his bones were fine. So we went and we get an X-ray of his little tiny bones. And then this orthopedist says his bones are perfect. And he's exactly on his growth chart. Everything is exactly as it should be.

And my son had something similar and completely outgrew it by age four. So George was two at the time. And he said, yeah, by his fourth birthday, all of these things will be in the past. And it's like, just take him to the playground more. Like he needs to climb. He needs to run around more. He needs to basically work out. And I was like, okay. I mean, and I have referenced George is a bonnie baby. He's a plump little guy. So now I'm wondering, I'm like, as I'm hearing myself say this, did he get like fat shamed?

Like what do they think he wasn't being exercisedised enough because he was like a plump baby? It could be. You're not making him move enough. Yes. You're probably carrying him too much and spoiling him and he can't move because he's so heavy. I'm sure that was part of it. And there wasn't anything alarming about his weight as far as our pediatrician was concerned,

but you would look at him and he was just like a round little, you know, a little plump baby. Just curious in terms of, to be specific about what his actual symptoms or gait looked like, you know, because you're saying that he's stiff, but was his walking, did it look the same? We usually speak in terms of gait patterns. So I'm wondering what this orthopedist is specifically, because that's really why you're going to the pediatric orthopedist, right? To do, we look for toe walkers, we look for pigeon toe walking,

that's what we're examining them for. Right, so there was no toe walking, there was nothing pigeon toed, like it was just like like if you imagined wearing like a knee stabilizer basically so that then there was no bend in the knees and there was no bend in the feet while he was walking and so he would just like totter back and forth like if you were trying to walk like the penguins in Mary Poppins when Dick Van Dyke does that scene that's what he looked like when he walked. It was just very stiff and straight and

no joint movement at all almost as he moved around the world. And also what we measure are things in terms of what's called passive and active. So did he have a difference? Could you bend his knee and bend his hip or it just was not being able to be bent at all? So I could bend his knees and I could bend one hip, but there was that other hip that was like, if I tried to like, do you know what, like he would side sit on the ground with both of his feet off to the right. If I tried to push him over to the left, he would fall over and he could not rotate his hips the other direction. They only moved one way.

But as far as his knees, I could get flexion in his knees and his ankles, but not that one hip. Was he in pain at all when you were doing that inflection or did he resist it? He, it was hard to tell because he was two, you know, but I could tell he felt really uneasy. Like he felt really uneasy.

He felt afraid, insecure. Whenever I would try to move that hip or try to get him to move in a different way, I could tell he just felt anxious. Maybe I now know that he felt like he was going to fall because he needed to brace the muscles that he has great control over to compensate for what was wrong. Yeah. And that's why I ask about the whole passive versus active, because if you can't move a joint, him moving it or you moving it, then there probably is something physically blocking, right? But if it's something that someone else can passively move, then it's more likely that there's an activation that's going on that's either bracing or compensating.

Yes. Yes. Exactly right. Yes. Yes. So basically, that put us in this after we'd gotten the all clear from the orthopedist and this assurance that my kid had this also and outgrew it by his fourth birthday. We were like, okay.

So we just kind of went through and turned our attention to this supportive care where we were like still would occasionally do chiropractic. And then we just did everything we could to try to get him moving because he wasn't active enough and more time on the playground would mean the total resolution of all of these issues. And so we just really focused on that. Meanwhile, we're watching our younger son, like this jackrabbit in our home, who just is like, movement was so easy for him. It was like every milestone was like nothing. Him walking was like,

one day he just did it, you know? And I've heard other people describe it that way. So that's what made me like, it really ramped up my instinct that we hadn't gotten what we needed from the orthopedist and that this wasn't just something that would be outgrown because before it was our one child and we could just see him compared to nothing and we had a sense that he looked maybe a little stiff. But now I had him compared to another child and I was like, oh wait, he's actually suffering. And then getting to see how easy it was for our younger son, then it made me realize, okay, he's actually suffering and struggling a little bit, you know, that he's had to work so hard to be able to walk and to like move around the

world that that made me. I just had like Spidey sense really take up to another level that I really wanted to do something about it. But based on the advice that we had received that he just needed to move more, we were like, okay, we're going to focus on that. So then we just tried basically forcing him to do things that were challenging for him because we were like, there was a period of time that I'm least proud of, which was like a maybe he just has a really bad attitude. Maybe we spoiled him. Era.

It was brief, but there was like a maybe we spoiled him moment. And a big component that I have not mentioned in this is that this child has never spent a night alone in his life. And he like in my efforts to sleep train him and my efforts to get him sleeping independently or sleep in a crib, it was just like a him looking at me in the middle of the night being like, are you joking? Like every, from infancy through he's now in the story, three years old, he has slept next to me every single night of his life. Not for lack of trying on my part, but I could either sit up all night with a screaming baby who was furious at me and terrified, or we could all get eight hours of sleep if

I just put him in bed with me. And so we set up the whole safe co-sleeping thing where you have a mattress pulled against the wall, there's nowhere they can fall and get wedged, there's no blankets, there's no cords, my hair is back, I sleep in sweats and a sweatshirt, so there's nothing that he can get tangled in. Like you can safely co-sleep, you know, with a child that's full term and with all these factors and so And so that was just what we had to do. And so then that led me to lots of like, because it had gone on so much

longer than I felt it should, I was like, maybe he has bad character. Which is just like, I mean, people think crazy things. People think crazy things. This was my first child. I wanted it to go the way it was going on Instagram for other moms, and that was my only baseline. And it was undeniable to me when he was a baby that I was really following my instincts, that he needed to be with me. And because even if you think back to the delivery room experience, like whatever these spasms he was having, as long as he was with me, he was perfectly fine. And it was only when he was taken away. And you know, for a baby to really want to be by its mother, like every mammal on Earth, mothers and babies

are very close. And so I gave him a very, like a ton of grace for that. And I was willing to like the contact naps and the, and as given, I mentioned that this like entry into motherhood was somewhat of a surprise for me. It was like, it was a really shaping experience for me as well to suddenly going from this like intense professional day to day to then contact napping with a baby for like hours

every day, where I was like, whatever work I could do for my phone is what I did. And it was just a total lifestyle change. But I really felt that my physical presence was needed by him. Like his body needed my body and I didn't know what else to say about it. And then when that was still happening three years later, I began to just basically feel insecure that I hadn't enforced enough discipline or whatever, that we hadn't been hard enough on him

about needing to walk in from the car by himself or needing to sleep independently, any of these. So we tried to kind of push that along. And then I would say after a couple of weeks of us trying to like be a little tougher, put a little more discipline into our parenting. It was just really clear that that was not the way. So now George is almost about to turn four.

And this is the magic number we've been given about when he's going to grow out of all of these things. And he has started to move more, but the big thing that has changed in his life is that at age four is when kids kind of become social. You know, they do like parallel play until then. And then now they like, kids like notice each other and they want to do stuff together.

So we have dear, dear friends who had a baby who's like two months younger than George and they live right down the street. So we have lots of play dates with this kid cause our friends could come over and the boys could play together. And this kid is another super mobile, very active kid. And so George was crazy competitive with this kid.

And this actually was so comedic for us as parents who've been friends for years that we have, that George is like treating this little boy as his nemesis. That like, why is this kid so much faster than me? And so then he starts talking to daddy who was like ran track in high school and college. My husband's an amazing runner. And so he says, daddy, I need to get faster than my friend.

And cause he says, I don't like it when he beats me. And so my husband was like, great. Like I know exactly what to do here. And starts teaching him about running form. And like, here's how you get faster. It's something you can control. And so then we watch little four-year-old George adopt perfect running form. Like the textbook he like got is the way his hands are moving, the way he'd hold his head, the way he would breathe, his posture.

This is like beautiful adaptation of all this training, except from the hip down. And it was like, we would watch him adapt. But then whenever it got to his legs, he just like couldn't do with his legs what he was able to achieve with his upper body. And this did create a lot of improvement overall, even though he had problems with his legs and his hips still, it did make him faster. And so we thought, great, all we needed to do was work on it. And maybe the doctor was right that he just needed to move more. And maybe this is part of the growing out of it by age four process that we were told

would happen. So since George is so competitive about this, we're like, okay, so you need to work on form and then you also need to work on endurance. And so to work on endurance, it's like, why don't we sign up for on Thanksgiving? We're hosting my entire extended family for Thanksgiving. We have a million people here. And then I had had my third baby at this point. So I have a little baby newborn. And I was like, why don't we all sign up for the local turkey trap? Because there is the 5K for runners, and then there's the little one mile walk run that

everyone's doing with their strollers. And I was like, this will be perfect for George to work up to being able to at least walk one full mile. So we show up on this beautiful sunny Thanksgiving day with our whole family. And we have the stroller in case he wants to get in and out of it. And our little guy would ended up in the stroller. I had our daughter in the carrier. And then George starts out on that start line, like. Because he's like in the blocks in the Olympics like ready to run this race and he's like running his little heart out and then you know he's to stop and walk and we're so proud of

him and we're cheering him on and then and then he just got to the point where, like, he was giving it everything he had. And I was watching kids who were around the same age, you know, that were, like, getting tired and because a mile is a really long way for a four-year-old to move. And we knew that and we expected that he would get in and out of the stroller and struggle with it. But the thing that was really incredible to watch was that he refused to get into the stroller, even though the seat was right there for him, and he was determined

to make it. But he just couldn't. And so he would stop and take a break, and then he would start walking again, and he'd run like five steps, and then he'd have to start walking, and then even the walking was hard. And he's like, you know, tripping on his feet a little bit, but like undeterred that he's going to make it. And so we see this entire race of people move past us. And these are all families with kids of all ages. And there's bikes and strollers.

And then we are like there's maybe three people behind us. And it's with these families that have tiny kids that are all sitting in strollers at this point. Like George is the only child under eight who's still walking at this point, but he was gonna do it. And watching him come up with the like determination and the grit to run across the finish line, even though he is fighting his body, was like, it was so beautiful because it put to bed

any sense that maybe he's just not trying hard enough. And I was so proud of him because it was the first time I'd ever seen him confront adversity and push through, you know, and so I'm watching him blow me away with what he's doing from a character perspective. But then also I'm seeing right now that my baby is not healthy. And so it was like the greatest of days and the worst of days. And that is what sent us then to our pediatrician. I had just like a wellness check for my newborn

and I brought her in to the pediatrician and I just said hey about George and I love my pediatrician by the way I don't feel like she missed this but like she listens to me and we could she would like sit and chat with me about this I was not dismissed she was not in a rush during our appointments she has really been a great partner with me even though she missed this diagnosis for quite some time and so I told her you know, and George is with me in this appointment and being on this day. So I have like the tragedy of the Turkey Trot, the tragedy victory of the Turkey Trot. A couple of weeks later, I met the doctor and telling her like, Hey, we need to really

address this with George. What's going on? I tell her this story. And then like he waltzes in the room and starts asking her like, how was your Thanksgiving? Here's what we did. Tells her about the turkey trot and then starts giving her like a lecture about black holes or the space shuttle or whatever it is and he's just charming her to death and she tells me she's like I have been doing this for 40 years and I know what a sick child looks like and she's like your child is not sick and I remember looking at her and just saying,

I need you to trust my instinct. I was like, this is a maternal instinct issue. And I was like, I don't know who's next for us to talk to since we've already been to orthopedics. Who is it? And she was like, okay, I will give you a referral to neurology. And so I get this referral, takes us a million years to get an appointment because they have like one appointment every seven months or something like that. And so finally get in in February. And we're fortunate that we just live really close to Cedars-Sinai, like huge hospital in LA. And so we're in an amazing pediatric neurology office. And so we get in there and I have written down a huge like two pages of bullet points of like every symptom, everything about his birth, everything that I've just been telling you. And I was like,

but I don't want to say these things in front of George because we need to control his perception of this. And I don't want to give him more than he can handle as the really little guy. And so George is under the impression that we are there to help him get faster at running, you know, which is true. But he's still- Performance training. Performance. Yeah, exactly. That is the cutest thing I've ever heard in my life.

Yes, because to George at this point, the only thing that matters is beating this other kid. So I'm over here having this like- It's true. You are there to help him get faster just in a different way than he thinks. I think it's lovely. I think that's so lovely that you told him that. It helped me a lot also to be able to frame it that way. Because the scariest thing about having a kid with any kind of special need is that they're going to

feel alone and that they're going to be lonely in this. And so, you know, I have a brother who has a scar from knee surgery. And so we like looked at that together and he talked about what it was like and all the people who helped him recover after that. And it was, you know, my husband shattered his collarbone and has a huge scar from that. Like we just, we talked a lot about how everybody needs help in the ways that they need help. And this is what you need help with and let's, let's go. And he was like, yeah, let's do it. You know, he just like, I'm going to beat my friend kind of attitude, which was just a gift. And so, so we walk into neurology. I have no idea what to expect, except I have this like big sheet written up. And so we walk in and then we meet with a

resident first and he asks George to take off his socks and shoes. And he takes one look at the shape of his feet and it's like typing silently for 10 minutes while we're sitting there. And then calls in like instantly. And then a couple of questions about the like stuff I'd written on the sheet. And then calls in like another resident. And then there's another nurse and then we're in there for a while.

And they're asking George to walk up and down the hallway and run and go outside. And George is like, this is my moment. I've been training for this. Look at my perfect running form. It was just, it was so sweet. I know what it feels like to be George where you think you are

doing such a good job, but everybody watching you is going, Oh my gosh, this is all wrong. When I went, when I quit circling back to when I had to have my gate checked, I was like, look at me. I'm a big lady, but I'm here running. And meanwhile, everyone's like, Oh my God, her knees. I know. But I'm here running and meanwhile everyone's like, oh my God, her knee's I am dating. Oh my God, she's gonna hurt herself. So I've been George and it is hilarious

because he probably was like, look at me crushing it. And meanwhile everyone else is like, oh my God. Yes, be like, okay, we need more eyes on this. Can we get a video? Can we get, yes, absolutely. But also it must have felt validating on some level for you to be like, oh, it's not just me, right? That thinks that there's something off.

Big time. Absolutely. And it was huge to just not have to be like, so, okay, I promise. Here's everything. Here's what I noticed. Here's my story about the Turkey Trot. Here's what he was like when I would go to the park with my friend when he was six months old. I didn't have to do that. It was like, say no more. We got this. And

I was in the hands of the experts who could really help us. And I felt that in the room. I mean, also my heart was literally breaking also as I realized that they are going into like, we need to give someone a terrible diagnosis mode. But at the same time, George is having the best day. And so it's like balancing emotionally, it was just a very wild experience. So we're finally, we're with like our neurologist and you know, she's wonderful. And they do a test with, you know,

where they strike a tuning fork and they're testing your nerve sensation on the tips of his toes and all over his body. then things with various textures like toothpick, cotton ball, like is it, you know, the vibrations of the tuning fork, all of this, even just like blowing on him, air blowing, what can he feel? And it was another really interesting thing because they were telling me that normally that this kind of testing is impossible to do on a four-year-old. But my little, little genius was like able to describe exactly what the

sensations were like and you know tell them they'd count how long he could feel the buzzing of the tuning fork on his toes and he was like nailing this test. And so they're on one hand like praising me for how incredible it is that he can do this because normally you have to be much older. And so I'm feeling so proud but then also like listening to the data that they're putting into the computer and realizing that he stops feeling the tuning fork vibrate way earlier on the tips of his toes than when they put it on his knees or his elbow or other parts.

And I'm like, oh, he can't feel his feet. And so they do, I mean, this test goes on forever. We were probably there for four hours with this team. It was really long and he's needing like snacks and bathroom breaks. And then the doctor asked me to give him my phone with like a show on it so that he could tune out and we could talk.

And she just looks at me and she goes, so he has a neuropathy. And I didn't know what that word meant beyond what I'd heard about like diabetic patients. You know, people have had diabetes for decades lose sensation in their feet. And so I was like, oh interesting. And Aston, she said we're gonna see there's a couple things that can cause it. She's like it can be genetic or it can be environmental. So she's like we're gonna do a lot of blood work to see if there's any environmental factor. Like if he has a

high level of a toxin in his system that could be damaging his nerves or a major nutrient deficiency that's damaged his nerve growth or things of that nature. And then she's like, then we're gonna do genetic testing. And she's like, and then there's any number of causes that could be in his genes. And she's like, the fact that you were noticing, she asked me these questions about my pregnancy and she like really zeroed in on the fact

that he was breech for most of the pregnancy and that I had kind of high amniotic fluid levels, which can be caused by a child that has a neurological issue that just isn't as active and that they're more stationary, sedentary. And so you get these higher fluid levels because there's just not as much flow and they just kind of want to sit, literally sit on their bottom, like in the womb. And they're not like other babies that are just doing these like somersaults through the whole pregnancy.

So then we go home and I'm like on one hand like, high five George, you were awesome with him. And then we go get a special treat at a fancy bakery. And meanwhile, I'm Googling like neuropathy, pediatric, on set at birth, and then telling my husband what we had heard. And then he's like, listen, he's like, what he's like you, he's like, can you call me?

And I was like, no, I'm still with George. So I can't like talk to you about this candidly. You have to wait till I get home. And he's like, you need to call me because right now I'm sitting here finding out that pediatric neuropathy means something like he has a disease that's gonna get progressively worse over his life and wind up in a wheelchair and not have use of his arms and legs. And I was like, yeah, I was like, that's,

that's what, what we are considering right now. That's what it is. And so this was just a hundred times more severe than anything we ever imagined that it could be. You know, we'd just been told like, your brilliant child is not a D1 athlete. And then now we'd gone from that to like, does your baby have ALS? You know, is there like one of these like spinal muscular atrophy that's fatal by age 10 or Duchenne muscular dystrophy

where no one makes it to college? Because the genetic testing is just a cheek swab that was like nothing and so easy. And we had to wait 10 days for those results. And then we went and immediately did blood work the next day. And I just remember this sensation of just being like suspended in time and space about getting this blood work. And it was just so brutal. Kid blood draws are the worst because it's painful and terrifying. And I knew he kind of had to go in blind. And then if I told him like, listen, buddy, this is going to hurt like hell, it's going to suck that we wouldn't get the draw.

And he's a passionate kid. And so it would be, it would not have gone well. So I just had to kind of keep him ignorant about it. And it was awful. And he came out of that room, just like spitting nails about how awful it had been. And he was like, we need, we need to call in. He has this imaginary personality that shows up in his play sometimes,

he was called Danny Dog, who runs a construction site. He's like, we need to call Danny Dog to tear down this building. It's like, get a wrecking ball in here. And he's like naming all that. Like, so we'll get a wrecking ball to safely, we have to create a perimeter and then we're gonna get dynamite to collapse the building

and then haul away the debris to take it to the landfill in the dump truck. Like he's just like mapping out like the plan of work to tear down this West lab where we had gotten his blood drop. So it was funny. Does he also want to do the blood lab where I've had work done? Because I too would like that taken down. Yes.

He wanted to send the lady who did it to jail and like, so funny. Smart kid. Yes. Anybody who takes blood. We love you. We need you. send the lady who did it to jail and like, so funny. Yes. We love you. We need you. So then it was the weirdest feeling where I was like praying for it to be environmental. I was like, I am praying for something to show up in his blood because then it's treatable.

I was like praying for a nutritional deficiency because that seemed the most treatable or like we can detox him if he's had a heavy metal exposure or something. And I even remember telling my parents when I was trying to make them understand the gravity of this, I was like, you guys, that we're at the point where I'm like praying for cancer. Like I want something we can treat. And I was like, because this genetic thing, we're screwed.

We have talked about this before on our show about how people say like, when I heard it was cancer, I was thrilled, you know? I mean, because again, it sounds like such an odd thing to say, but again, most cancers, they are treatable, right? There's a plan. You can proactively do something about it. So it's not the craziest thought that you had.

Yes. And in this like current cancer world, people are trying all kinds of stuff, these really interesting things all over the world. We're like, yes, you can use the method that they use in this country. And we can also do amazing things with diet. And then you can use low-dose chemo for blood.

It's like this work plan that would almost have been a mission to figure out. And so I was really praying for that. So we were devastated then when the blood work came back perfect. And then it was just like living in this weird zone of waiting on the genetic testing results. And this was absolutely the low point of the whole process

because what we could see is what they were testing him for. And if you look at the panel of when they do a genetic test, if you have a neuromuscular disease, you're looking at diseases that are 90% of them are fatal before age 20 and learning about things we had never heard of. And so my husband and I were awake like all night for three weeks talking to various, we had like four different AIs up simultaneously, just like, okay, what are the treatment options for this? Where's the research on this disease?

Just so that we were ready to just act whenever we got the results. And in the midst of this, we were up, you know, there's late research nights, and then George starts crying in his sleep, which is really rare, because he's had a bad dream, which is also really rare. And then, so my husband is next to him and wakes him up and I would say, George, George,

what's wrong? And George says, can you please pray that God will protect me from bad dreams? And my husband was like, wow, what kind of bad dreams are you having? And George kind of said, it's just, he goes, it's terrifying. I'm all alone. I'm all alone. And then my husband says, you know, George, is there anything that God wants us to know?

And George just sits right up in bed and looks at him and says, God wants you to stay by my side because I'm only a little boy. And like I don't know what George was picking up on that was in the house, you know, that we were so terrified and he could obviously tell that we were so stressed and not sleeping, but it just, like he had this sense even then, you know, and he still really doesn't have much of a sense

of his diagnosis, but just being so little and so isolated and what he was experiencing and wanted us to know that. And so we were, I mean, it was very gripping, obviously. And then a couple of nights later, we get the genetic test results in the middle of the night and my husband comes, I was sleeping with our infant who had woken up and came in and he woke me up and we ran in, he said, we got the results.

And then we see that it's a mutation on the SH3TC2 gene. And he has, and I'm like, what in the world do I know about genetics? Nothing. And so we're trying to figure out what that is. And then we learned that he has a damaged copy of it, a pathogenic copy of the gene on each chromosome.

So he's had to inherit one from each parent. And we're like, what in the world? And my husband kind of works on genealogy as a hobby. He's a historian. And so he's like, he's, he's like, I've tracked both of our ancestry back to the 15th century. And like, we don't have a single common ancestor back to the 1500s. And he's like, so there's no way like how in the world because we like, there's no inbreeding at all for hundreds of years. And so then our wonderful neurologist then was able to see that we had checked the results. And so she calls us at seven o'clock in the morning and she's like, I saw you guys looked

at this overnight. And she's like, here's what I've been able to find. And she's like, I don't have any other patients who have this. I'm learning about it. And she tells us that, you know, this is a disease called CMT, which is one of the most common rare diseases in the world. And it's the most common inherited neuropathy. And that there are 120 different variants.

And they all deal with some kind of deterioration of the myelin sheath on the nerves that causes nerve death in various ways. And the way that ours works, that we have this gene is the one that signals the Schwann cells that make up the myelin sheath to reproduce themselves basically and it's just a really an underperforming gene. So he has myelin and this one only affects the peripheral nervous system so everything except for the brain and the spine

itself. And so he has myelin but there's lots of interruptions in it and it's weak and so that means that the signaling from his brain is slower and so by the time it gets all the way down to the feet and all the way out to the hands, he's getting signals that are weak and he can't tell his hands and feet to like contract and react in a normal way. And so this explains his very frequent falling because he had toe drop, you know, where he wasn't able to lift up his toes.

And so whenever he was walking from like grass to concrete, for example, like he, that inch, that half inch change in elevation, he couldn't do like the lightning, the instant signaling from his brain to be like, oh, pick up your foot at an extra half inch, the way that, you know, that helps someone with healthy nerves can.

And so that explains why he was constantly falling, why he really struggled with running. And it gave us our entry point into explaining all of these symptoms that he had had his entire life. So I want to expand. So CMT is short for a disease called Charcot-Marie-Tooth, which has to go down in the history as the worst name for- Yeah, that's Disney's name. Can we read? The worst, okay.

And we talk about this all the time about, we need the rebrand, all right? Yes. For these pieces. Even as I'm an orthopedic specialist, I was like, oh, like Charcot Marie tooth. I'm like, those are the kids with the high arches and they have really weak quads.

And I'm trying to think, but because there's nothing in the name that would make any connection to what, you know, actually was going on. But I think you did a great job explaining what CMT is like and just, we do this every week, this Dr. Nance Med School 101. But in this case, you kind of think of your body

is made out of electrical wires, and those wires are insulated kind of with some like rubber material. And in these conditions, there's something either wrong with the rubber itself, or in your case, the cells that make the rubber. And so now you can think that these wires are frayed, right? And because they're frayed, it means that the lights flicker or the refrigerator hums, right? There's just, it's not going full force, the electricity. And so that signal cannot make it down to the basement.

It can't make it all the way to the attic. And that's what was going on with George, right? He couldn't feel the tips of his toes. And as I said, it is genetic. And I think one of the interesting things, and I'm sure you will enlighten us, is that it can have a varying degree of severity and presentation, which makes it even that more harder

to diagnose because not everyone shows up with the textbook symptoms. Right, yes. So this is, I mean, the next step sort of after this diagnosis was then looking at what his, how far reaching was this? Because there's a paper studied, and this is like one place where I think my background did help me, because basically I just had access to the whole University of California research

platform. And so I was able, and they have such a huge medical school that I had every medical research platform possible. So I just found everything I could about this and printing out all these papers. And I learned that one of the first things I discovered, which was one of the worst things that could have possibly happened to me, was that a year prior to our diagnosis, there was a 16-year-old boy in Brazil who actually died from CMT-4C, our exact variant. And because the peripheral nervous system, even though that makes you think like the

periphery, it's really everything except for the brain and the spine. And so it does impact the cranial muscles and nerves and even swallowing and breathing. And there are breathing restrictions. And so then it can really closely resemble ALS as to how it presents symptomatically. And so, you know, if you, if you, the way that I had seen him like lose control over the nerves in his legs and feet,

I now would learn that it was also in his hands, which I hadn't really picked up on, but that was really evident in the sort of clinical assessment that they did. And now I'm like, oh my gosh, can he breathe? Like, can he swallow? And he was in at the time, like what I now know was like a pretty typical, just like selective eating,

picky eating phase. And so I started having all these like PT's, people we were meeting with being like, maybe he stopped eating because he can't chew and swallow anymore. And I was like, maybe he stopped eating because he can't chew and swallow anymore. God. And I was like, and people would just like throw this out there during like a physical therapy assessment or something.

Like, oh, and maybe we need to work on the diaphragm because maybe he just can't make his lungs work by himself anymore. And I'm like picturing that he's like, got a handful of years left and it'll be a slow decline where every function of his whole body is gonna need to be supported mechanically. And the level of darkness and crisis I just cannot express. I had friends that were like every meal for a month. I had somebody that I didn't,

like I had one friend who apparently organized this for me. I wasn't even like on planet earth enough to even know what she was up to, but I was just like food was showing up. People were coming over for play dates to play with the kids. And it was just our community was just like, we don't understand what this disease is, but you're going through it. And I had a friend who sent me like a rotisserie chicken three times a week, just like in case you're not eating, you know, and, um, so shout out again to those friends, those little things that you might feel like you're overdoing it. You're never overdoing it.

It's just sometimes so hard to communicate that you need something. So shout out again to the friends that show up and provide the rotisserie chickens three times a week that you didn't ask for, but you probably desperately needed. I did. Yeah. And you also get in the like, oh, I can just order DoorDash. I don't need you to do this. But then it was like, I don't have the bandwidth just order DoorDash. You know, I don't need you to do this. But then it was like, I don't have the bandwidth

to order DoorDash. And so the unrequested grocery order, I mean, was shout out to Laura. Thank you for that. I'm sure she's gonna listen to this because she listens to everything I do. So as we're, you know, it becomes now this process of like, how far, look, what has the disease taken?

And what is it going to take? And so then we got connected instantly with the person who was gonna make the AFOs to help with the foot drop problem and then finding like the physical therapist who was really gonna resonate with him and then start going through post diagnosis what was actually affecting him

and could we have any sense of the rate of progression? And what gave our neurologist hope actually was that he was exhibiting those symptoms in the womb with the like low movement, the breach position, the high amniotic fluid, because she's like, if he was presenting in utero, maybe this rate of progression is not that fast. Maybe he was born with impairment that's not necessarily getting that much worse that quickly. She's like, it will progress, but maybe it's just like he's always been at this level of

impairment and it's going to go super slowly. She's like, that's what we're going to hope for. And she found one paper that indicated that perhaps that could be what we're looking at, which would be a miracle. But then I'm finding other kids who are deceased before age 16. So and we really just don't know which one it is. The blessing and curse of research. A lot of things, but there's a lot of things you just don't want to know. Yeah. And I just want to talk about one thing because a lot of, right, you had seen therapists

before, you had gone to chiropractors before, but without a diagnosis. And so they, and they actually made a law a couple of years ago that now you can just go directly to a physical therapist or occupational therapist without seeing a physician first and just start therapy and have treatment. But the issue is that, and I didn't want to put words in your mouth, but it sounded like to me all this time he was having spasticity, right? And now I'm sure you know that that is the actual term. It was more than just stiffness, right? And so it's only after you had the diagnosis,

which is why I say, you know, diagnosis is power, that then you could get the right targeted therapy, right? Because in some instances, you completely unknowingly might have been doing things that were potentially even harmful, right? Absolutely were, yes. And so I just say that because that is, and trust me, this podcast is called The Medical Detectives and I run Little Misdiagnosed and it is really, really hard, but it's that diagnosis that gives you power and that gives you that at least treatment plan. So yes, right. Yeah,

absolutely. And so yeah, that's so we learned what we hadn't even realized was that the main problem was like a weakness of the foot itself and the Achilles and that we weren't we were looking at hips, we were looking at hamstrings, we were looking at like, what would make me stiff if I was walking like that? What would cause that? So you're exactly right that the diagnosis made us like basically just look lower on the body and like more at his extremities. And when we heard basically that like, okay, there's no treatment except for supportive care.

So all you have is like orthotics and physical therapy. I was like, oh great. Like that's not gonna do anything. And then we get him fitted for his little orthotics that basically just hold his feet at 90 degree angles. And I had never noticed that he was sleeping with his toes pointed straight down because he had so much tightness in his arches of his feet,

his Achilles, up his calves, and then even into his hamstrings, that when he was asleep, the whole back would like shrink up and then point his toes straight down. And so just by holding his feet at 90 degrees while he was sleeping, for those first couple of weeks, he was just like, you know, when you're stretching and you actually stretch a physical nerve, like

you feel the electric like zing. And so he was just like going firing with that, like all night long, this like ping, ping, ping, ping. And he was waking up thrashing in bed. Like it was so uncomfortable for him. And then we were like, I don't know if he can stand this and he's not getting any sleep. But then over time, it started to lessen. And we realized that we were actually physically stretching the nerve, the actual nerve itself. And then that allowed us to stretch all the soft tissues.

And then now he's a hundred percent comfortable wearing these and has so much more mobility in the backs of his legs. And so he's gotten a ton of these and has so much more mobility in the backs of his legs. And so he's gotten a ton of function back just from that one intervention. We were truly shocked. And to our incredible relief and surprise, the majority of his symptoms that we were focusing on before the diagnosis were all just secondary effects that were caused by

having super weak ankles as a baby. So like the hip tightness, the needing to hold onto stuff, the lack of balance, the slow running, like that was all just because he had developed all of this muscle tightness because he was compensating for having no strength in his feet. So the disease has taken far less of his body than we initially feared, which is fantastic. It's really just fingers and halfway up his calves now, which is great. And so we now have to try to keep it there

by keeping these measures functioning as much as possible while we work towards the development of our gene therapy that will stop the progression of his disease. And that whole endeavor is what has brought me to you because that's why I started my TikTok and I'm learning about this whole drug development world that is the Wild West. Yup. So, so for anyone who has been listening and may think, wow, she sounds really familiar,

that's because Catherine has been going viral on TikTok for the past week or two or? Yeah, it's like two weeks now. Yeah, two weeks in pursuit of raising money to fund a clinical trial for CMT that will help your son and similar, your children who are in the same boat. And so how did that even start? All right, so the night we get this diagnosis, we have the early morning call with our neurologist. She tells us, you have this disease, it's either fine or terrible.

And she's like, but the great- Great. Yeah, excellent. Thank you so much. Thanks. And she says, but the past decade, there has been a boom in research in this very area of medicine.

And so she's like, I don't know what you have going on. She's like, we're gonna, we're gonna look into it. And she's like, I would not be surprised if like, before he turns 10, there is a cure that would potentially work for him. So then my husband and I instantly get online and we're looking at everything and we find that there's a dad in Colorado whose son had been diagnosed 18 months prior at age 12 and He has been leading the charge to fundraise and organize this whole effort to get our gene therapy brought to the market. So 15 years ago the CMT Association

funded a study for a group of ago, the CMT Association funded a study for a group of variants of CMT at the Cyprus Institute of Neurology and Genetics. So that Cyprus is in like off the coast of Greece. Yes. So they have an institute there and there's one researcher, his name is Dr. Kleopas, Kleopas Kleopa is his name, and he is the expert in gene therapy for CMT and then a couple of other of these neuropathies. And as we're reading about this, this drug has performed as beautifully

as a drug can perform in preclinical studies. They'd completed a rodent study and there was a lot of funding for it. And the real benefit that we have as far as the treatability of this disease is that we only need to treat one kind of cell, which are the Schwann cells. And so that means that we can just take this healthy copy of the gene. You know, gene therapies work a lot of the time where you embed

them in a virus and then you basically infect the body with the virus and then that virus carries the healthy copy of the gene to the cells that that express that gene. And so our mutated gene is only expressed in these Schwann cells that make the myelin sheath around the nerves. And so we can inject it into the spinal fluid, which is a lot safer than if you have to inject it intravenously, because it doesn't go through, it basically spares your liver of having to deal with these high loads of the virus. And it only has to

reach this pretty targeted part of the body. So after we learned about that there was this drug that had been invented, then we felt, you know, we talked to our neurologist and she told us that we, in her words, we had won the golden ticket. First of all, that a cure had already been invented and that it looked like the chances of success were as high as they could possibly be because the path was straightforward about how the drug needed to function. And then I was like, great, well, what's the problem? And then I learned that nobody had bought the IP after this first study had been done. And there had been some interest from various biotechs, but the gene therapy, because when you're dealing in these

really rare diseases, it takes a ton of money to develop the drug. And then you have a very limited number of people who can buy your drug once it's drug. And then you have a very limited number of people who can buy your drug once it's approved. And so financially, it's just an extremely difficult case for an investor to make, but not impossible because these sell at one and a half to $2 million per dose. And so we have our variant CMT4C represents about 4%

of the total cases of CMT overall. But that gives us a couple thousand, about 8,000 treatable people, but just between the US and the EU. So someone could make their money back on this. And so I just went into like all in mode. This is the moment when I withdrew from my PhD program and like left my entire career

to just focus full time on this and to think like how do we raise the funds? We need six million dollars to pay for the remaining steps to bring this drug to the first clinical trial. So we have to manufacture the drugs for what's called a toxicology study which just determines the dosage that will be used for the use case that we have. And then after we've determined proper dosage, then they manufacture the actual drugs that will be used for the first human trial, and then we fund the human trial itself. Now, at any point, some company could come in

and purchase this drug, and then they could pay for the development, and then they would own it to be able to bring it to market. But this is a crazy time for gene therapy investment. Just this week, there was a, like, horrific tragedy with one of the big gene therapies that's on the market, a company called Sarepta that treats Duchenne muscular dystrophy. There were two fatalities with that gene therapy because they had to inject their drug intravenously and it caused a toxic situation for the liver.

And then two 16-year-old boys died, one 15 and one 16. And so investors are really spooked. And then I have also run into this situation where charities are also really hesitant because, and this is something I talk a lot about on TikTok, which is people want their impact to be measurable in terms of numbers. That if you're giving your wealth away, you want to see that it's making a huge difference for the greatest number of people. And so when you show up with a handful of sick children who have a very uncertain, potentially extremely difficult future ahead of them, and even life limiting condition, you know, they could treat this little handful of people or solve a school lunch program

for 10,000 children in a big city. And it's like fighting for those resources is very tricky. But something happened to me where I, in the month of June, I just kind of got tired of grieving because I knew I needed to go into action. And I was so devastated about having left my PhD program. I cannot understate the loss that that was to me. That has been my identity, my life calling, my great passion. I love understate the loss that that was to me. That has been my identity, my life calling, my great passion. I love teaching. I love the research. I was

successful in my career. It was like, I loved it. And it just was clear that I couldn't pretend that life was normal and that I had that child with this extraordinary need that needed every resource I could possibly give it while I'm already so busy raising all of these three children. And so I went on a fast for the month of June, right? Nothing but plants for 30 days and water, and then emerged from that experience, ready to take this on and find our $6 million and bring our gene therapy through that first trial,

which is not guaranteed, but likely that our son would be treated in the first clinical trial. But then also see what I can possibly do to fix this horrific scenario that we have worldwide, which is where we have cures that are invented for hundreds of rare diseases like my son's. And all we lack is the funding

to actually deliver them to patients. Like there are kids that are dying from curable diseases solely because the funding is not there to put the trial together that would allow them to get treated. And the injustice of this is just something I cannot abide. And I am now committing my life to fixing this. What made you think, I need to take this story to TikTok? That's a great question. So we posted this on our like personal social media

and I'm not someone who's ever taken to social media ever. I have a couple of videos I've done on YouTube about my academic work. That's all I've ever done online. So after I posted on my Instagram, you know, to my 800 followers or whatever, who are all friends and family, it was just to share the news and it really broke my heart in a new way to be public about it. Because when I shared it, it became real in a new way and we couldn't hide it. And it was like our life

now. And so I just was just going to announce that we were dealing with this because I knew I wanted everybody in our world to at least know. And we posted the fundraising link and shared the news about how there is a gene therapy that's been invented, but we need all this money in order to be able to access it. And I assumed that we might get some support, but we ultimately would find a foundation that would be able to fund this. And that was because coming from academia, most of my work for my whole life has been funded by some kind of donor, you know,

higher education is funded by there's these huge fundraising departments at every university and they have donors where you have hundreds of thousands of dollars flowing in every month and then these major gifts of even hundreds of millions of dollars at universities. And so I felt like I was familiar enough with the fundraising world to know that, okay, I will just get to know this philanthropic class, but the version that cares about pediatric rare disease and then this is how it's going to go.

So we raised twenty thousand dollars from the initial announcement from Friends and Family, where we had several hundred people contribute so generously and I was so deeply touched that people open their wallets for us that it was it was moving, but it was also like very hard. You know, no one wants to ask their friends and family for cash. It was it was rough. But I thought, all right, now I don't want to ever talk about this online again,

because having to talk about it, I had to do probably 20 takes of that first video because I just could not stop crying. And I would get to the end and then try to describe the disease so people could understand it. And I couldn't believe that I was about to put in public. My baby probably, there's a world where my baby will never get a driver's license,

because his body won't be able to do that or I'd plan to sign him up for piano in the fall but do I teach him to play piano if he's not gonna be able to use his fingers when he's 12 you know and and I just I hated saying it but then after I announced that then I spent two months getting to research like every foundation and I'm like great I know what fundraising is. And then it was like, oh, wait, you actually can't apply for funding from Mackenzie Scott's foundation. They come to you. There's no way to apply. Okay, the Hilton Foundation, they care so much about children's health. Oh, but they have seven areas of focus and rare disease is not one of them. Okay. And then I was starting to realize that like for every child with a rare disease, there's a separate

Tommy's miracle foundation, you know, that is putting together a little like, 5k run walk at a park in San Diego, and they get like vitamin water to sponsor them and it brings in eight grand and they are up against needing $10 million. And I had started to read these stories about children whose parents were trying to fundraise, fundraise, fundraise, and their kids died because it didn't happen fast enough. And it's just monstrously sad and starting to explore what the government could do and what big philanthropies could do. And I was just like, this is terrible. I don't have a funding source and funding is the only thing stopping this. And so it kind of led to another sleepless period. And it was while I was in this feeling like very motivated, I had left UCLA, I'm like ready

to do this full time. And so I woke up in the middle of the night, it was like 1am. And I just filmed, I had like no makeup on and in my pajamas and film this video about like, Hey, do people know that there have been cures invented for the worst of the worst diseases and we can't deliver them to the patients who are dying from them because there's no money? And I posted it, went to bed. I don't even check TikTok very often. And so I checked it like that evening and I suddenly had hundreds of thousands of views and all of these comments and getting all these followers. And so I was like, whoa, people don't know. And then I realized how the advocacy piece

and the public health crisis, the policy elements that are at play here was the thing that was really resonating with people because as compassionate as you are, I've seen how many like Tommy's Miracle foundations have I come across in my life, or maybe give my $40 and never really think about it again, unless it's a close friend. This talking about it from the policy perspective and how the system needs to go through a major

change, I think that is what engaged people on it think like, oh, this does affect me. I do want my tax dollars to go towards this. I do want to support this advocacy for this total injustice and this nonsense situation of sick people not accessing existing cures because of funding. I think it's hard because, to your point, exactly what you said is that there are so many solutions out there. I had a situation where when I got my genetics back,

my doctor basically sat me down and was like, you're probably not going to see any solution to this specific gene because there's just not enough money in solving your problem. So my one hope is, yeah, it's not, it's not a great thing to hear and it's not just to me, right? There are so many people that experience this. You hear about the term orphan condition where it's just like, there's just not enough money in it. So there's less things available to treat it. And what's even more frustrating is when you see the things that get big money that are

not real problems. I'm just going to throw it out there. I don't think we need to fund any more erectile dysfunction cures. I'm sorry. I don't care if you can't have sex anymore. I would rather have a child to live. But you know, that's the other thing that gets really frustrating, is when you see things like that. Right, right. Yes, I know. And I think like that's why I'm very optimistic. And I think and I say I'm very optimistic in that I will insist upon this

as I go through the future advocacy work in this area. This must be a truly bipartisan effort because there is no position against healing a sick child, especially if there's these existing cures or cures right on the cusp. And this can't be siloed because it's already so siloed. And I'm adamant about that, carrying that forward when I do this. Yeah, I mean, there's people doing incredible work and I'm privy to a little bit of background information

because of the health app that I am building called Feel Better. And I have had many research institutions reach out to me because they need more visibility, because they need more funding. because they need more funding. All their sources of funding have dried up and they're doing incredible work, but nobody knows,

not only do people not know what they're doing, but they don't know why they're doing these steps. And that I believe is the biggest missed opportunity and where social media can really come into play because social media is all about storytelling. And you see this, again, probably, I'm sure you compare your rare disease to other rare disease like, how come Parkinson's gets so much whatnot? And a lot of it boils down to the storytelling factor.

And I'm sure there are a lot of people who have seen your videos, they could not tell you what Charcot Marie Tooth is, but they know they want to help you. They think it's not right that your son doesn't get treatment for something for a cure that already exists. So I think what you're doing is a brilliant form of really using the best part of social media, which is, again, virality is just another way to measure engagement, what people are really passionate about. And I'm sure Anna could talk. Anna is the biggest creator I know. Really the mark of a viral video is how can we get someone to care about something who knew nothing about this topic before? And what you have done is just absolutely genius and incredible and is very, listen,

it is simple, but it is not easy to do. So I have tremendous amount of respect for what you're doing on TikTok. Yes. Thank you. Thank you. I really appreciate that because it's so interesting. I have been so fearful about doing anything public with my academic work, which is truly my area of expertise.

And then with this, I had a friend tell me that a friend who works at X, she was like, don't try to be an expert. No one's expecting you to be an expert in gene therapy. We have those. The person who invented your gene therapy is an expert in gene therapy. What you need to be is Erin Brockovich. And I was like, yes, like I need to be the person who does the storytelling. And I just happened to recently see that movie

for the first time. And it's like what her superpower is getting to know the people who are getting hurt and to be able to bring their stories to the people who can do something about it in a compelling way and with all of the passion and determination in the world. And it feels very weird for me to be operating

in this new capacity where I'm up here talking about things that I read about for the first time a month ago. I also, I have to also say that the thing that is giving me the courage to do TikTok, because it does still take me out. Like sometimes I'll get a moment where I have to hire a babysitter to do these because I have three really rowdy small Like sometimes I'll get a moment where I have to hire a babysitter to do these because I have three really rowdy small children. And so I like have my babysitter, I'm here.

I'm like, okay. And then I'll just like do as many as I can in one sitting. And then I am drained and devastated after these because I have to confront it. You know, it's like, again, where I'm saying like, all right, today, because my son is okay today, he can move around and you can see that he can move in our videos. But like, I also know that I have to act now in order to preserve his age 12, 16, 20, because

that doesn't look good. But it's in so forcing myself to confront it now before it's the my house is on fire is really hard. And like the emotional toll is crazy. But I have this like, scrappiness about it right now. It's like truly like this like maternal primal thing where I just see some like adversarial force. There's a pathogen that is after my child.

And if somebody judges me for how dumb my TikToks are, I don't want them in my life. Or if somebody thinks it's distasteful for me to ask them for money, don't need to be friends with you anymore. I have one goal and it is about my child, his future, his safety, his wellbeing, and there is nothing else that matters. And it's kind of a superpower. That is the power of purpose, my friend. Yes. Because everything else, you can just see the bullshit on the wall, right? You're like, yes, it's not worth my time. Bye.

I'm going to keep focused. I've said my whole life, I was so lucky to have a career I was passionate about working in literature. I'm so lucky to have a passion. I'm so lucky I can pursue my passion. And now passion has like, I've sent it away like a dove release. And now I'm like purpose. Like I can't fail.

Yes. I'm watching my passion flutter away and when I send it with love and wish it the best and now Failure is not an option and I am not going to fail at getting this drug to my child and then hopefully Millions of other kids after that Katherine. Thank you so much for sharing your story for sharing George's story I think you're an inspiration to so many parents who feel Helpless right there like I you keep running against these brick walls and you have taken things into your hands. And I'm sure you're working with a lot of other family

and medical experts as well, but keep going. And any way that we can support, that's why we do this podcast, to give more visibility to the stories that deserve the visibility. Oh, I appreciate that so much. I would also say Catherine does have a GoFundMe for her research, which we will be linking in the episode's notes. So if you do want to help her achieve her mission of getting the treatment for George, or if you want to help her in her longer-term mission of helping this type of process work

for other kids with other conditions. This is the first step. So you can find that link there and donate and help bring this to life. Thank you so much, Catherine. Go for it, thank you both. So this is a really interesting episode because oftentimes we come to the end of the story and either there's a solution or there's a sad ending

or there's some type of finish, some type of closure. This episode didn't have that closure and that's because the closure can only come if she's able to raise the funds. Yeah, and she's already raised hundreds of thousands of dollars from people who have supported her GoFundMe because they've seen her TikTok videos. Her TikTok videos are so viral.

I hope she makes some money from the views itself. But again- Creator Fund, hopefully. Yeah, Creator Fund. So what we're at the very minimum is to help bring awareness to this problem, to help bring awareness that these types of fundraising activities exist. People's dollars are really precious.

And I think sometimes people just like being part of something that's bigger than themselves. So this is a wonderful opportunity. You've just spent over an hour listening to this mom pour her heart out and you actually have the potential to make a difference. I would also say by supporting this particular fundraising effort, it's not a one case scenario. This fundraising and this solution will be used as a case study, right? I mean, really what she's building is an example that communities can make medical changes and can help develop these medications. And

so she had talked a little bit about philanthropic difficulty and getting donations there. With a good case study, that could be turned around, right? It could be given as an example of those funds actually saving lives. We just don't have that data right now, right? So she's taking it on her own to create the situation so that this can be the story for so many more children with so many untreated disease where a medicine is just sitting there waiting for a final trial.

And it was very interesting. She described it as one of the most common, rarest diseases. And her particular version of the disease is super rare, but it could have just a massive impact. And I, you know, as I said, I am an actual expert in this subject as an orthopedic surgeon, and even I learned so much from her. And I think it's just part of, again, we all do lifelong learning. It goes back to me as she had that mom gut, that mom instinct that really never fails

you. And we talked about just a little bit, but again, it's really hard when your pediatrician, when your doctor's the one telling you, oh, don't worry, they'll grow out of it. Oh, you know, I'm not worried about it, so you shouldn't be worried about it. And we say this all the time, but if you have an instinct that something is not right, you get a second opinion.

And in this case, she loved her pediatrics. You know, she had no negative things to say about them. But just because a person is a good doctor doesn't mean they'll catch every single thing. And again, doctors are humans too. They are limited to the information they've been exposed to. And so we sometimes dog some doctors on here, I'll be real, I've definitely been on team dog doctor very many times. But a lot of these situations don't happen because a doctor was negligent. They happen because a doctor just didn't have the experience with this very specific condition. So it's not

wrong to get a second opinion. Sometimes it's the only way you'll get someone who's had experience with your condition. Absolutely. So in our show notes, we will have the link to the GoFundMe that Catherine is fundraising for. And thank you so much, everyone, for listening. Please share this with anyone in your network who also you think may be interested in helping. And we will see you next week.

Yeah, I hope that the way this story ends is that she's able to get the treatment, come back on, and tell us and give us that closure that we're all hoping for. So, see you later everyone. The Medical Detectives is a Soft Skills Media production produced by Molly Biscar. Sound designed by Shane Drouse. If you have a medical story you'd like to see featured on The Medical Detectives, please email it to stories at TheMedicalDetectivesPodcast.com. The information provided on The Medical Detectives is for informational and entertainment purposes only and should not be considered medical advice.

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