Become a Creator today!Start creating today - Share your story with the world!
Start for free
00:00:00
00:00:01
Episode 83: Alexa Colella - LGMD2C
20 Plays1 day ago
Alexa’s daughter, Charlotte, lives with limb-girdle muscular dystrophy 2C (LGMD2C), a rare genetic disorder leading to childhood-onset progressive muscle weakness. In this discussion, Alexa takes us on a journey from an unexpected diagnosis at just two years old, to finding hope through groundbreaking gene therapy.
What stands out is the way Alexa describes living with the condition not as a single moment of impact, but as something that unfolds over time—something she is “still reacting to almost 10 years later.” The conversation gently explores the realities of parenting a child with a rare disease: the constant planning, the invisible challenges, and the emotional complexity of watching your child grow up faster than they should have to.
Charlotte’s story is not only one of medical complexity, but also of resilience, empathy, and perspective. From advocating for herself at school to comforting a nervous nurse at just four years old, she embodies a maturity shaped by lived experience. The episode also highlights the power of community and science, particularly the life-changing impact of gene therapy and the families who push boundaries to make treatments accessible.
Above all, this episode is about hope: hope found in progress, in people, and in the extraordinary spirit of a young girl who feels “weightless” in the ocean; a place where her condition momentarily disappears.
The song that Alexa chose is Hallelujah by Jeff Buckley.
Recommended
Transcript
Introduction to On One Condition
00:00:00
Speaker
Hi, I'm Sylvain Berthold and you're listening to On One Condition, a podcast to raise awareness about health conditions by listening to people who live them every day. My guest today is Alexa Colella and we're going to talk about her daughter Charlotte and Lynn Gurdall muscular dystrophy 2C.
00:00:20
Speaker
Hi Alexa, how are you doing? Hi, I'm good. How are you? i'm Great, thank you. Thank you for joining me on the podcast. I love starting with a song. So which song did you choose and why?
00:00:35
Speaker
Yeah, so I chose Hallelujah, but the Jeff Buckley version. Charlotte was a very poor sleeper as a baby, and we did everything we could to help her sleep. And for some reason, that song worked very, very well.
00:00:53
Speaker
And so we probably listened to it 10,000 times over and over and over trying to get her to sleep. So anytime I hear that song, I just am reminded of as a baby.
00:01:06
Speaker
at least it's a song that you you can listen to it as many times as you want. It's never not going to be an amazing song. It is genuinely forever perfect. It's just a great song.
00:01:19
Speaker
Yeah. Yeah. Wow. That's a, we're starting with a bang here already. dogtar Yeah. Right. So we're talking about your daughter, Charlotte. Can you remind me how old she is?
Diagnosis Journey
00:01:34
Speaker
She's 11. Okay. Well, let's start with the the beginning. How did you realize that Charlotte has LGMD? How old was she?
00:01:45
Speaker
Sure. So she was between two and two and a half. She didn't really like to nap as we previously identified. And she, one day she was really, really fighting a nap and she got these like really rigid cramps in her stomach. And then she spiked a little fever. And I called the nurse's line and they were like, you got to take her it's the ah ER. So we took her to the emergency room um and they suspected that she had hepatitis. And so they admitted her. to the hospital. And so we were in the hospital and she was getting fluids and all sorts of testing to to check her liver health.
00:02:25
Speaker
They also were running labs like CK, and transaminates like ALT and AST. And a geneticist saw some both lab signs and clinical signs. And he was like, you know, I think this is muscular dystrophy.
00:02:39
Speaker
And so he tested her. He tested her for Duchenne first, noting that there is a thing called a manifesting carrier where girls can get Duchenne or can have symptoms of Duchenne.
00:02:51
Speaker
um She did not have that, but she did end up having a type of limb girdle muscular dystrophy. Oh, okay. Was that a quick process then? um It actually kind of was for us relative to what I hear from other parents and other families with muscular dystrophy, with the exception of things like SMA or Duchenne. sort of noticed this pretty quickly, and then he ordered a pretty full panel, a neuromuscular panel of genetic tests.
00:03:19
Speaker
So she was diagnosed within six months ah okay of sort of theory. sort of theory Yeah. How did you take the diagnosis?
00:03:31
Speaker
I don't really know. that's hard i mean, i don't like looking back, I guess, well, not well ish. I mean, it's kind of one of those things where like, it is so, so much to process that you can't really do it at a time. And so, you know, I'm sort of still reacting to it almost 10 years later, like,
00:03:54
Speaker
you know, this is this is a a wild thing to think about and experience and wrapping my brain around it. So I say a lot that I micro-dosed my reaction where I, you know, I like understood this is a very big thing to react to and sort I just did it in pieces.
00:04:13
Speaker
With that diagnosis, did you have anything you got access to or were there any more tests that needed to be done? No, at that point, it was definitive, right? We got the genetic testing. and And at that point, it was kind of hard to say like, this she doesn't have this or she you know she might have something else or something different.
00:04:35
Speaker
We were referred to a neuromuscular specialist at kind of a nearby children's hospital or research hospital. And then we also were able to be seen at nationwide children's hospital, which is which at the time, one of the sort of premier doctors for muscular dystrophy, Jerry Mendel was there. And it was considered kind of like a place that would be a host for clinical trials should they happen in the future.
00:05:02
Speaker
So we wanted her to be there just because we felt that her access to those trials would be easier. They do a lot of the natural history studies. And so, you know, we wanted to participate in those as well.
00:05:15
Speaker
So what kind of symptoms does she have?
Impact and Response
00:05:18
Speaker
So in the beginning, when she was diagnosed, she didn't have any symptoms with the exception of kind of occasional rhabdomyolysis episodes. And rhabdomyolysis is a rapid breakdown of muscle commonly triggered by overexertion or trauma.
00:05:37
Speaker
so you see it a lot in people who are in car crashes or who overdo it in like marathons or at spinning class. you can have something called non-traumatic rhabdomyolysis as well, which is a viral reaction.
00:05:49
Speaker
So she would get these sort of episodes of rhabdomyolysis when she is sick. And so we would hospitalize her for pretty much any illness. And then, you know, she didn't start showing any sort of signs of muscular dystrophy, like any kind of weakness int until maybe five.
00:06:06
Speaker
But I would say that looking back, they were only signs of weakness to us because we knew that she had it. Had we not known that, I think we would have just thought that she wasn't very athletic.
00:06:17
Speaker
Okay. So she didn't start showing any sort of atypical from maybe an unathletic child signs until maybe fourth grade. And then she started having a hard time getting up off the floor. She started struggling with steps.
00:06:37
Speaker
She was not able to run for very long or for very for very fast. And then between fourth grade and now, she declined pretty significantly to where she couldn't get up off the floor at all.
00:06:49
Speaker
I'm not sure if she could really go up more than four or five steps. and And she couldn't Okay. Okay. okay So now how mobile is she and how does she move around?
00:07:02
Speaker
So she received gene therapy as part of a clinical trial last year, and it has been it has been improving her mobility pretty significantly. She has a much easier time going upstairs and can go up one or two flights.
00:07:18
Speaker
We don't really push this because we live in a part of the US where there aren't a lot of stairs. That's very funny. And so, you know, we don't we don't actually really know how many stairs she can go up.
00:07:29
Speaker
She can do sort of brief little little runs and she can get up off the floor again. So her mobility has improved pretty significantly, which has been incredible to see. Wow.
00:07:41
Speaker
So it sounds like she's gone. and And I know for you, it's probably not what it felt like, but quickly from being mobile as any child to not being able to walk to now being able to walk again. Is that fair to say? she could She could always walk, but we would, if we went to like the grocery store or something, she would get tired walking from the car to the store. And so sometimes I would kind of just leave her in little spots in the store and then kind of run and go get something and then come back.
00:08:16
Speaker
And now she doesn't have any issues with, you know, doing the whole grocery store trip. But yeah, so she she sort of quickly went from feeling very, very typical, i'm not needing a whole lot of support to to really needing a lot of support. And then then now, not not really as much. You know, we we still try and limit how much she puts in her backpack because she wants to sneak all sorts of stuff to school like you know, toys and stuffed animals and gum. And I'm like, okay, but it's heavy now. so please, a you already have to carry books and a computer, like put it away.
00:08:51
Speaker
yeah Well, that's good. That's a good sign. Yeah. yeah So tell me if you can answer that or not, actually. I've heard through the podcast that being different at the age that Charlotte is, it's quite difficult. And it's almost black and white that...
00:09:14
Speaker
your real friends, you'll know who they are, but then people who are not your friends could be quite mean. Does she experience any of that?
Social Challenges
00:09:25
Speaker
Yes. So i would say that the sort of social stuff is probably the hardest thing for her because It's really hard to understand disability and its social impacts and its health impacts. Like even as an adult, right, we we as adults still really have our hard time wrapping our brain around what access means, what ability means, and what, you know, not having access or not being able to do the same things as your peers would. And, you know, if you don't have a disability, how can you be part of like the village to your friends who might have a disability? Like this is this is really hard for grownups with fully formed prefrontal cortexes, right? With kids, you know, it's really, really hard, especially if you are the only disabled kid.
00:10:21
Speaker
You know, your peers probably don't have a whole lot of understanding of disability. They probably do not know many disabled people. And then you as a child, you're sort of seeing, you know, if you are the only disabled kid, you're sort of seeing all of these people do all of these things that you either cannot do or sort of not permitted to do.
00:10:43
Speaker
And it's really, really, it's really, really tough. And she had a really hard time with it. Because Charlotte was in a stage where, you know, she could do some things and not other things, a lot of kids didn't really understand that her disability was not fixed in one place.
00:11:01
Speaker
You know, maybe earlier in the day she could get up off the floor and then later in the day she couldn't. And so there are a lot of kids in here her peer group that were like, oh, you must be faking it because you could do this earlier. She had friends in her classroom that were deaf, right?
00:11:15
Speaker
So these children, their hearing was pretty sustained. Their ability to hear was sustained from the morning to the afternoon. yeah had this you know It was hard for them to understand. And then it was hard for her to to advocate for herself and to explain it because she was also a little kid, right?
00:11:35
Speaker
Yeah, yeah. It's the school accommodating with her needs. Yeah. we So we initially, her her first school was a public school that was sort of well known in the community um as being a very, very good school. But when came time for her to take gym class... she would try and participate or they would have things there that were pretty risky for her to do like trampolines. Not super good idea for a kid whose muscles pair. And, you know, and so we, we met with them to be like, maybe she shouldn't take gym. And they said, no, this is an absolute requirement. She cannot be opted out of gym. She can opt out of activities that she can't do. And I was like,
00:12:21
Speaker
She's seven. like She doesn't know that she can't be on the trampoline. And even if she did, that doesn't feel fair to her. And so it's just going to be extraordinarily painful. yeah So we switched to a small private school for her that the gym class was, it it really wasn't gym. It was more sort of just like being outside and playing. And so She was able to modify her physical activity to what was feasible for her.
00:12:48
Speaker
And it was a pretty supportive environment. Her school now, I would say, is even better. she's It's wonderful. the The kids are great. The staff is great. And they they do whatever they need to do to make sure that she's able to access her education the same way as anybody else.
00:13:06
Speaker
Wow, that's nice. we are very lucky its yeah it's difficult to find the right place for your child when they don't fit perfectly in the box.
00:13:19
Speaker
Going back to understanding her disability, do you see her being more grown up than her classmates, for example, because of what she's been through?
00:13:32
Speaker
In a lot of ways, yes. She just has to be super careful with her body. So she has to make sure she's drinking enough water. Otherwise, she might have to go to the hospital. She has to stretch every night. you know She has to do so much to take care of herself that other kids do not have to experience. And she really has to think about her day.
00:13:52
Speaker
She has to plan. We have to do things like be really careful about what shoes to buy her because If they're too heavy, she gets tired more easily. Or the clothes that we buy her, she can't, or she can now, which this is so cool, put hoodies over her her head.
00:14:09
Speaker
Every decision she makes in a day has to be filtered through the context of her disability. And so she has really learned planning, decision-making, things that I, as a kid at her age, I was just, i was just winging stuff, right? Like I was out there just figuring it out and she really didn't have that carefreeness, I guess.
00:14:32
Speaker
And, you you know, she also, you know, the other thing that's really incredible about Charlotte and I, and I've heard this from other parents with kids with rare diseases as well, is that they sort of show signs of,
00:14:47
Speaker
inclusion and empathy for others um really, really early. i have a great story about Charlotte where she was four and we were in the hospital and we were there for a couple of nights. she had She had some virus. I'm not sure.
00:15:00
Speaker
I don't remember which one it was. It's been a lot of hospital visits, but it was two or three in the morning and a nurse had come in to do labs with her. And he he was clearly very, very nervous. And I was still kind of sleepy. And I certainly wasn't responding to this, but she sort of sat up in bed and she started talking to him and he told her, you know, this was one of his first days. He was a little nervous and she grabbed his hand and she was like, you're doing great. You're going to be, you're going to do good. This is going to be fine.
00:15:32
Speaker
You know? And so that was like a weird moment for me as a parent, because I was like, you should absolutely not be worried about your healthcare care providers and mental well-being, right? Like this is not a thing that should even occur to you.
00:15:46
Speaker
and so there's a part of me that was a little like heartbroken that that's what she was thinking about as a four-year-old. But then there was another part of me that was like, wow, what a cool kid. She's she's so sweet.
00:15:58
Speaker
Yeah, I think it's social intelligence. You acquired that through experience. And unfortunately, you probably, in Charlotte's case, she's been in situations that were not nice at all, I imagine.
00:16:15
Speaker
Right. Yeah, no, she has very much learned how to protect herself in situations that another child might perceive as very risky.
00:16:26
Speaker
now Going back to rules, um yeah yeah you you didn't necessarily describe them as rules, but things she needs to think about yeah for her day.
00:16:38
Speaker
She's at that age where you're craving independence. So how does she find the balance between rules and and being able to do things herself?
00:16:49
Speaker
It's so funny because she she both craves the independence, but she also, i think, recognizes that she doesn't feel quite sure of her independence yet. So she'll she'll be like, I'm going to do this. I'm going to do this. And she's like, very it's all very like animated. I'm doing this. This is this is what I'm going to do And then a couple seconds later, she's like, what should I do?
00:17:15
Speaker
she She really wants the independence, but she wants she doesn't want it independently. Yeah. So she still is sort of checking in with me about a lot of things. And I'm trying to do more of letting her feel gentle consequences, gentle natural consequences of maybe poor decision making. So yesterday it was almost 90 degrees here and she wore jeans to school.
00:17:40
Speaker
And she was like, it's going to be hot later. Should I pack shorts? I was like, you're not, we're not doing this thing where you pack two different outfits for every day. You need to make the decision as to what you're going to wear now. And she's like, well, going to wear the jeans. I'm like, okay. So two hours later, the principal emails me. She's like, can you bring her shorts? I was like, no, I'm not doing it. Yeah. She'd be fine. It's only 90 degrees. Roll up her pants, have her drink water. She's she's okay now. I'm not concerned about her safety anymore.
00:18:09
Speaker
Previous to gene therapy, I probably brought her shorts just because too much heat could could actually be risky for her. But at this point, I'm like, no, no, no, actually, this is good. This is good. This is a a somewhat typical childhood experience as you make a bad decision yeah and you just have to live with it.
00:18:27
Speaker
Yeah. You said in passing that Charlotte has to stretch every night. Yes. Why does she? I don't actually have a good medical reason for it.
00:18:39
Speaker
I can't explain the mechanisms, but I do know like clinically speaking that if she doesn't stretch, her joints tend to be very susceptible to contractures, so they'll fix.
00:18:52
Speaker
So if she doesn't stretch, if she doesn't keep particularly her ankles very limber, they will sort of like fix in a position that is not super comfortable to walk and she'll have to wear ankle braces.
00:19:04
Speaker
And so we have a little post in the living room where she just stands on it and it just keeps her ankles in a cute angle. So less than 90 degrees. And that that kind of just keeps that ankle complex and and calf muscle really stretched out. The other thing that happens a lot with muscular dystrophies is calf hypertrophy.
00:19:27
Speaker
And we don't really know why the calf in particular both gets a lot of fibrosis in it and also remains pretty strong, but the calves get really, really big. So the those muscles around that need to stay really stretchy.
00:19:45
Speaker
I'm not sure how good of an answer that was. but No, no, no, that's good. And is that something that you learned from the healthcare?
Support and Trials
00:19:54
Speaker
Yeah, yeah.
00:19:56
Speaker
That's actually one of the only things they say you should do. us So you get this diagnosis and it's like horrible, right? Cause they, you know, they're, you're in the genetics office and they're like, you know, she's probably in a,
00:20:09
Speaker
Lose the ability to walk around 10 and, you know, typically we see loss of life around 20. And you're like, oh my God, what do i what do I do? And they're like she can stretch. And you're like, that, that's not an answer.
00:20:22
Speaker
That's not, what? This is not a congruous answer for the information you just gave me. This is. This is not okay. And so they're like, yeah, stretching, physical therapy.
00:20:32
Speaker
And you're like, that's that's it. so So yeah, that's that's a about the only thing that you do. i yeah And do you get any support from the healthcare system at all?
00:20:47
Speaker
I mean, it's America, no. no that's Okay. i would Okay. so we we work pretty closely with the MDA, the Muscular Dystrophy Association. Charlotte is an ambassador this year.
00:21:01
Speaker
She's very involved with the MDA, but the MDA is really, really great because what they have done is they've established care sites around the country. So most of the sort of children's hospitals or big medical complexes have an MDA clinic.
00:21:18
Speaker
And the MDA clinic combines the sort of multidisciplinary care that is really necessary for people with neuromuscular diseases. They make it so that you come in, you come into clinic and you get cardiology, you get pulmonology, you get physical therapy, you get your labs, you get neurology. So you get all of the sort of really important medical teams that are necessary to monitor your well-being at one time.
00:21:46
Speaker
So it makes it a lot cheaper because you pay just kind of like one fee. It's often covered by insurance here and you get all of those sort of services. And so that's really wonderful that the MDA does that because otherwise the waits are long and then having to think about going to cardiology and then make another pulmonology appointment, that's just annoying. So that's a great answer that the MDA has done. And our providers, the people that care for Charlotte are exceptional.
00:22:19
Speaker
I don't believe there are doctors in the world that are better than the neuromuscular specialists. They're the best. They're the best people. So as an institution, medically, not really, but the MDA and the actual clinicians are exceptional. Yeah. Yeah.
00:22:34
Speaker
Nice. I can imagine that if you didn't have that, you you might have to go to the hospital much more often than than you need to. and and And knowing that the team is under the same roof as well, it must make communication so much easier.
00:22:50
Speaker
Well, and the thing too with having an ultra rare disease is We love our primary care providers. We love our pediatricians. We love our family practice doctors. That said, this is not an area where they have a whole lot of knowledge, right?
00:23:06
Speaker
That's correct, right? Like they're not really supposed to know the ins and outs of every ultra rare disease. That's what the specialists are for. They are there to serve the sort of big tent needs of the human population. And that's important.
00:23:19
Speaker
But one of the great things about the MDA clinics is you get people that treat those neuromuscular diseases from those different multidisciplinary perspectives. So you get a cardiac appointment with a mo with a muscular dystrophy focus. And so they're able to see the red flags. They're able to see the things that really need addressing. Whereas I don't know necessarily that if he even went to cardiologist on our own, just a general one that wasn't affiliated with the em MDA whatsoever, that I would necessarily trust that she would be getting care sensitive to her ultra rare disease.
00:23:57
Speaker
Yeah, yeah. That's a good point. Well, that sounds like a very, very good resource for you. Yes. The MDAs are great. And how did she become ah an MDA ambassador?
00:24:08
Speaker
I saw an email calling for applications. And so I was like, Charlotte is the most gregarious social butterfly that there is. And she would love to do this. So I applied and they were like, yeah, let's.
00:24:23
Speaker
she She can be an ambassador and and she's loved it. So we make we know we do videos talking about the services that they provide. And she's participating in the Shamrocks campaign, which is a collaboration between the MDA and retailers where you can go and you can buy a little Shamrock and it's got pictures on it and it all goes to the MDA.
00:24:44
Speaker
Yeah. Charlotte's the green green Shamrock this year. Okay. Nice. Yeah. She's super pumped. You mentioned clinical trial a couple of times. Yeah. And I work in that industry. So I'm very curious about it.
00:25:00
Speaker
What has your experience been about taking part in a clinical trial? It's been a bit of a roller coaster, to be honest. So we were, she was part of, we, I i did nothing except drive her to places. wow we We were not part of anything. Charlotte was was the MVP of of any of all of this.
00:25:22
Speaker
She was part of a longitudinal study to be part of a clinical trial or or potentially part of a clinical trial for gene therapy for 2C. And they had gotten the FDA approval for the trial and they were, you know, recruiting patients and, you know, getting to a point where they're like, you know, go find, you got to find somewhere to stay because she's she's someone that we want to be in the clinical trial. And then they pulled the plug like at the very last second.
00:25:48
Speaker
That was devastating because you go into these things and you you know that you are not guaranteed a spot in trial and you know that you are not guaranteed a treatment, but you have kind of an expectation that they're going to make every effort to do the clinical trial that they need to do.
00:26:09
Speaker
And there really wasn't, I can't really say there wasn't a medical reason because the the drug had There were some fatalities with the drug. I don't want to say the drug caused some fatalities, but it was in a very, very small population of people. So definitely not sort of excusing that at all, but that it it it was a very devastating blow because that was really going to address a pretty significant population of this ultra rare disease.
00:26:35
Speaker
um However, there was another trial happening at the same time from Genathon, which is a French company. and They're sort of, I guess, a subsidiary, Atomayo. So Atomayo has a clinical trial for 2C going right now.
00:26:51
Speaker
And the Dion Foundation, which is a nonprofit here in the US, a family with two children with 2C, were able to fund the opening of the trial site at UF in Gainesville, at the University of Florida in Gainesville.
00:27:07
Speaker
So they were able to raise enough money to get that site opened. Two children were dosed in the first part of last year. And then Charlotte was dosed in that trial sort of fall of last year.
00:27:19
Speaker
It's done very well. are They just presented at the MDA conference that the expression is 90 to 92%, which is exceptionally high for a muscular dystrophy.
00:27:30
Speaker
And so we feel just like profoundly lucky to have been able to do that. Yeah, sort of can't wrap my brain around that with Charlotte. And so both Charlotte and I have decided that we are not done. And every kid with 2C has to get this now or get something like we're we're not done. with it yeah We are now wholly devoted to making everybody else just as lucky.
00:27:57
Speaker
That's amazing. What's the expectation in terms of the long term effect? you know that? ah We're not quite sure because the vast majority of gene gene therapy administration and muscular dystrophies has been Duchenne muscular dystrophy.
00:28:17
Speaker
There is also an approved drug for SMA, but SMA is not really a neuromuscular, it's not a muscular dystrophy in the same sense that Duchenne and the sarco glycans like Charlotte has are.
00:28:29
Speaker
And so we can't, it's, you know, with the, with SMA, it's not an apples to apples, and it's not even an apples to apples with Duchenne. what we've seen with Duchenne is that it sort of just moves the timeline.
00:28:41
Speaker
So, you know, she will eventually, presumably we assume that she will clear the gene therapy at some point and that its effects will sort of decrease over time. We do not know what that timeline is because unfortunately there really have not been that many people with sarco glycans treated. yeah And the ones that have been We don't have a lot of data on them because that data is sort of pretty preciously guarded.
00:29:09
Speaker
It was a wild swing. So far is looking like the right swing, but we yeah yeah it's always a question mark, you know? Yes. Hopefully a question mark more on the positive side than the negative side.
00:29:23
Speaker
yeah Yeah, yeah, I'm hoping the question mark just kind of slowly bends and straightens out to be an exclamation mark. And I'm very happy. Yeah, yeah. So far, it's looking really good. And the work that the the Dion Foundation did was
Finding Peace at the Ocean
00:29:38
Speaker
profoundly beneficial to our community. And they too are committed to making sure that all kids with 2C are just as lucky as as us Yeah, and that's incredible that them they managed to open a site through funding. Yeah. I've never heard of that because usually you start a trial knowing where your sites are going to be in ultra-air diseases. It's very difficult to be close to patients, but usually you ask patients to move rather than patients opening a site. And yeah, that's amazing.
00:30:13
Speaker
They truly did something that I'd sort of never seen in... in in the industry before. They kind of took it upon themselves to say, what's the what is the best swing that we have? what What can we do? And they were, they just were aggressive. And and they were like, we are not waiting.
00:30:31
Speaker
yeah And you know there's there's a right time, right place to this. you know I don't know that necessarily the same thing would have worked 15 years ago. I'm not sure. i don't know if the science was where it really needed to be 15 years ago. No. um no But they they recognized that there was a moment that was waiting for somebody to do something with it, right? The science was ready. it was ready to go, but it really needed a powerful force behind getting it going. And the Dion's, they just did that.
00:31:02
Speaker
It was amazing to watch. Mm-hmm. Joe, the the dad of the two kids, Maggie and Peter, he reached out to me on Instagram. He DMed me and he was like, hey, we love your account. Do you want to work together to kind of get this stuff funded?
00:31:17
Speaker
And I met with them one time and I was like, there's like a there's like a real magic with with them where you know you just you hear them talk and you're just like, I just, yes, take my money. going pay for you. And so we you know we started helping them fundraise and we started sort of really working with them to amplify the message and raise awareness and change sort of the the flavor of our content a little bit on on our Instagram, Rose and Resilience.
00:31:46
Speaker
And they did it. I still don't really have words for learning that a child with LGMD2C got a gene therapy. It just doesn't feel real.
00:31:57
Speaker
It still doesn't feel real that Charlotte got a gene therapy, right? Yeah, yeah. That's amazing. i love science. I do too. I really, really love science. Yeah.
00:32:11
Speaker
Well, I have one last question for you. You got it I will ask you to answer for Charlotte, if you don't mind. Sure. What's her happy place, a place where she feels at peace?
00:32:24
Speaker
The ocean. oh each And I don't even have to think about it because that kid loves water. She loves to swim. She likes the way she feels in water because she says that she feels like she doesn't have muscular dystrophy when she's in water because she feels weightless. um She loves the way the ocean smells and she loves sharks and she loves looking for shells. And there isn't a thing about the beach that doesn't make her feel calm and whole.
00:32:53
Speaker
And we live very far away from one. Oh, okay. So it's not something that she she can go to that often then. We do whenever we can. Yeah. yeah Yeah.
00:33:05
Speaker
Well, hopefully she'll be able to go to the beach soon. so we do have a We do have a pool, which is kind of a weird thing. So she do she does get a chlorinated yeah body of water.
00:33:17
Speaker
It's not even a beach. But yeah. Yeah. So the the the ocean for her is is where it's at. Nice. I completely get that.
00:33:28
Speaker
It's been so nice talking to you. You too. I started thinking, feeling feeling like I needed the week to be over and now i feel lighter than I was an hour ago. And I don't know how you did that. I i think that it's Charlotte.
00:33:46
Speaker
I learned so much from her because she just has this like the spirit, you know, she's, she is funny and she's bright and she like, she genuinely makes you feel like you can do anything.
00:33:59
Speaker
And so I sort of let Charlotte guide me a lot. What I do and how I do it and how I see the world has been very heavily influenced by her. And I think it's a good thing.
00:34:11
Speaker
And it's a wonderful way of finishing this discussion. So we'll leave it at that. Thank you very much. Thank you for having me.