Prove Me Wrong…I Know My SMA Child Best | Ep30

A baby can look “fine” until a tiny skill disappears, and then you’re suddenly living on a clock you never knew existed. We sit down with Melanie to tell the story of her son Kyle and his spinal muscular atrophy (SMA), from the first subtle signs (stopping weight bearing, skipping a typical crawl, slumping in a chair) to the moment one word changes the medical response: “used to.” If you’ve ever felt dismissed with “kids develop on their own timeline,” this conversation gives you language that helps: be proven wrong.

Melanie walks us through the real-life path to answers: IVF, gaps in carrier screening, a fast-tracked pediatric neurology visit, genetic confirmation, and AAV9 antibody testing that determined whether gene therapy was even possible. We also get honest about the part families rarely see coming until they’re in it, insurance. Denials, peer-to-peer review, strict criteria, and the pressure of knowing that in SMA, every day can mean more motor neuron loss.

We break down SMA types, why newborn screening is a game changer, and how AAV9 gene therapy works as a viral vector delivering the missing gene so the body can produce the SMN protein. You’ll also hear what life looks like after the big medical moments: physical therapy, school supports like a 504 plan, playground dynamics, and the power of community through Cure SMA, advocacy, and resources like Ryan House respite care.

If this helped, subscribe, share it with a parent who needs to hear “trust your gut,” and leave a review so more families can find these stories.

For more information on SMA please visit www.curesma.org

Transcript

Welcome And Meet Kyle

SPEAKER_01 0:00

Hello, everyone, and welcome back to the special parent podcast. I'm your host, Dr. Deanna Iverson, and I'm here with a good friend of mine, Melanie. Hi, Melanie. Welcome to my podcast. Hi. Thank you for having me. I really appreciate you being willing to do this and come on here today because I know it's super awkward to sit and sometimes talk in front of a camera about things that are your personal life. So Melanie has a son named Kyle. He is a wonderful little boy and we love him to death. And Kyle has a disorder that we're going to talk a little bit about today and how it's impacted their family and how it's actually shaped their life in a lot of ways. So, Melanie, first of all, just tell us a little bit about Kyle. Who is Kyle?

SPEAKER_02 0:44

Kyle is six, soon to be seven next week.

SPEAKER_03 0:48

Oh my gosh.

SPEAKER_02 0:49

He's in first grade. He loves school for the people, for the playing. Um, but he's very good at school. That's great. Um he gets around, he's very active. He doesn't still, you would never know he had a muscle weakness disorder the way he moves. He walks a little funny, but he walks. But most of the time, nobody even notices that there's anything wrong with him.

SPEAKER_01 1:16

That's amazing. I'm so glad to hear that. So Kyle's disorder, and I want to make sure I say it right, spinal muscular atrophy, also known as SMA. And so that's what your shirt is for today. And we'll talk a little bit about the foundation with that too as we go on. So spinal muscular atrophy. A little bit about um like Kyle having that, when did you learn Kyle was had SMA?

SPEAKER_02 1:44

Um, SMA is a neuromuscular disease where they are missing the protein needed for motor neurons to communicate with muscles to function. So if your muscles don't have this protein to communicate, they atrophy. And so that was what was happening to him. About seven months old, six months old, he started or stopped, is a probably a better way to say it, standing, um, not putting weight on his feet, uh army crawling. He never crawled. Um, he only crawled with his arms. And um he would be sitting in his high chair and then kind of just fall to the side. Like he couldn't sit upright. And I was having him sit on the floor to take Christmas pictures, and he would just fall over. I couldn't get him to sit up.

SPEAKER_03 2:38

Wow.

SPEAKER_02 2:38

And so I just knew something wasn't off. It was something was off.

SPEAKER_01 2:43

And it so it showed up for him pretty early. Um, and and what we're gonna talk a little bit about when we talk about SMA is there are different types. You you educated me on that. So thank you for that. I did not realize that. That was awesome.

IVF Journey And Birth Complications

SPEAKER_01 2:55

Um, so Kyle has a little bit of a story for how Kyle came to be. Uh, you were telling me that you and your husband had to go through IVF. So, can you tell us a little bit about that story and how that impacted your family?

SPEAKER_02 3:12

Um, yeah, we're older parents, so nature wasn't doing its thing and needed intervention. And because of age, more is pretty much my problem was that um in the end I did four rounds and I only had one embryo. Wow. From the fourth round. So, because that was gonna be my last round, and because you can only do so much and it's very expensive. So I just had the one embryo and it only had a 25% chance of implanting, and he it had a genetic abnormality as well, but not estimate, and it had a 25% chance of being normal and working, so everything was against us. As we now know, he was more than 25% because it was normal for the abnormality that was detected, and he became a human.

SPEAKER_01 4:13

Yep, there and here he is. Here is Kyle.

SPEAKER_02 4:17

And then seven months later, nine months later, he was diagnosed at nine months old to be told he has a genetic condition that wasn't detected during IBF.

SPEAKER_01 4:27

So, with all the things they do for for moms that are moms and dads that are are trying and using IBF or any other method, it's still not a perfect science. And so and that I found that so interesting. You said that they detected a disorder, but then the disorder really wasn't an issue.

unknown 4:48

Nope.

SPEAKER_01 4:49

They didn't detect the disorder that is the issue until well after. So, yeah, very interesting. All right. So, and then your birth story. You had quite an interesting birth story. It just seems like the world really wanted Kyle to come into it with as much of a hiccup as possible. Pretty much.

SPEAKER_02 5:14

Um, I went full term three days past. Um, my doctor wanted to induce a week early. And I fought. And he said, okay, we'll compromise because I won't go past 41 weeks, so we'll go with 40. We'll go with your due date. Okay. And the hospital was full. Everybody liked your due date. Put me at the bottom of the list. And so two days later, they called me in to induce, and it didn't really do anything. So I was there for two days waiting. Then my water broke. And because of that detected genetic potential disorder, I had an extra care team on site. There was an extra 20 people, it felt like in the room when he was born, and then they whisked him away to the NICU. So much for privacy and intimate moment on that one, huh? Yeah. So I didn't get that time. So he was in the NICU for five days. Um he had a CPAP at first.

SPEAKER_01 6:14

We think of that for older people, but the same idea, just an infant-sized one.

SPEAKER_02 6:18

Yeah, very tiny mask on his face. Um, but he was doing just fine. He didn't have that for very long. Um the nurses loved him even back then. They're like, he's on a schedule and he knows when he's hungry and he knows when he wants to eat. That's great though. Hells us when he told he was loud. He was very loud. But low maintenance, how's that? But they tried to keep him longer and with some mix-ups that were never proven, we finally were able to take him home. Wow.

SPEAKER_01 6:57

That was probably such a relief. You get home with a baby who it seems like there's the disorder you thought you had was going to be all taken care of and not a problem. And then Yeah, everything was going fine. Everything was going fine until it wasn't.

When Regression Finally Gets Heard

SPEAKER_01 7:14

So some of the first signs you started noticing slouching in his seat, not able to stand. He was at first, and then he lost the ability. So a regression in skills, um, not able to stand. You had talked about you brought these up to your pediatrician.

unknown 7:30

Yeah.

SPEAKER_02 7:30

And how did that go? So, you know, um, the first year you go every month for well checkups. And then if they're sick, you go for those appointments. And those five, six, seven months old, he, you know, had your typical probably infant colds being in daycare. And so we were there more than once a month. And then so about six months, seven months, eight months, um, outside of the well visits and the well visits, I would say he's not standing. And the doctor tried to say that not all our kids are on their own timeline, they'll stand when they want to stand. So then we're first-time parents, don't want to freak out over everything. Right. And try to just stay observant. But then when it was getting worse, it wasn't like fast, progressive, but it was getting worse. You know, uh, it was noticeably worse, but it could have been stronger. Um, we brought it up again, and finally the pediatrician heard me when I said used to.

SPEAKER_03 8:30

Yeah.

SPEAKER_02 8:31

Those words mean regression. And so he tested Kyle's uh knee reflexes and he didn't have any. Nuts, a hallmark symptom. There's no reflexes.

SPEAKER_01 8:42

Wow. I and we always wonder, right? How many times have those of us who are tip neurotypical-ish sat there and they dunk your knee, right? And you kick, and everyone's like, Why do they do this? Now we know. Exactly. They're testing your neuromuscular system. Wow.

unknown 8:57

Okay.

SPEAKER_01 8:57

And how he was, you said seven to nine months around that time. I remember with my middle son with Trevi, uh, with Trevor, we went to the doctor. And there were so many times I brought up, you know, he just doesn't seem to be doing this. Or I'm watching and kids his age are doing this, and he's not even interested, or doesn't even seem he's capable. And so many times I felt doctors did not listen to me. They did not really hear, and I got the exact same thing you got. Totally different doctors, by the way, everybody, different doctors. I got the exact same words you got. Oh, everyone develops on their own curve. He's just on his own curve. And so it you just kind of you're okay, you trust your doctors, right? So, knowing that, knowing we've both had that experience, I would say, do you have any advice for parents, even if they're not special needs yet, just parents in general. Advice for parents on if there's just something gnawing at you and you feel like you're getting dismissed.

SPEAKER_02 10:06

Take it with a grain of salt. Listen, take, you know, be cautious with that too, but be proven wrong. I love that statement. That's my favorite statement.

SPEAKER_01 10:19

Be proven wrong. It's not this is what I think. Something's not right, prove me wrong. Right. Don't don't convince me it's wrong. Don't try to tell me why you think it's wrong. Prove me wrong. There you go. That's a great one. Because both you and I were proven right. So, and there are probably are people who were proven wrong, and that's great. Exactly. But at least make them prove you wrong. I love that. I love that so much.

Neurologist Triage And Rapid Testing

SPEAKER_01 10:46

Uh, and so now the doctor sends you to, was it a neurologist you said? So the pediatrician sends you to the neurologist. And how did that go?

SPEAKER_02 10:56

Yeah, he said he was put in a referral, but he said they're busy, and don't be surprised if you can't get in till June. This was December. And so we're like, okay, but now you have us worried because you're referring us to somebody.

SPEAKER_01 11:09

Right.

SPEAKER_02 11:10

He didn't give us any of his, you know, thoughts that he was thinking could be wrong. So we're okay, you know. Dan did research. I tried not to. I understand that. I'm sure I did some too, but um SMA was on Dan's radar. I Dan is dad, by the way, everybody. Dan is dad. I I hadn't found it yet. Um, but we our pediatrician said the right words somehow. That's what our neurologist said. He used the right words and he got my attention, and we were in in three weeks.

SPEAKER_01 11:46

Then three weeks. That was probably a little bit of a red flag to you, wasn't it? When he said it could be months and now it's well, we got him right away, yeah. Right away.

SPEAKER_02 11:56

And then he, you know, examined him, did the reflexes, you know, whatever. This neurologist is the SMA doctor in town.

SPEAKER_04 12:06

Okay.

SPEAKER_02 12:06

And he's older. So he's he knows all the SMA patients in town. He's been doing this for a while. So he knew what he was looking at. And I find it interesting that our pediatrician he must have said something that got that neurologist's attention because did the referral just go to neurology and then they triage based on the notes, or did he send us specifically to him? That's what you gotta wonder, right? What it looked like on that other end to get their attention. Right. Because there's a ton of neurologists.

SPEAKER_03 12:39

Oh yeah.

SPEAKER_02 12:39

Phoenix children's, but this was the SMA one. Specialist, the guy who knew what he was doing. It's not like we got bounced between neurologists. So he just examined him and he's like, I am very cautiously said, I'm not convinced that it's SMA, but we're going to test and see. But I'm not 100% sure.

SPEAKER_01 13:00

Which was maybe he was just being cautious to not Yeah, worried at the same time. Right. He didn't want you to leave that appointment an absolute freak out. Right. But wanted you to be aware he he needed to move forward with some testing. And now you said he did a really amazing thing for you, this neurologist. He not he didn't take things one step at a time. He was like, if it is this, we already need to know this next piece. So he did both tests at the same time. Explain that a little bit.

SPEAKER_02 13:32

So yeah, so it had to be confirmed genetically, and then um there's an antibody that they had to test for called AAV9, and I I'll get into that later, what that is, but um, they needed to know whether he was negative or had an amount of AAV9 antibodies before they could proceed if he is diagnosed with SMA. So they order both tests at the same time, and usually it doesn't work that way. You get diagnosed, and then you gotta come back and get tested further. He did it at the same time, and this was a Tuesday. We had an answer by Friday.

SPEAKER_00 14:11

That's amazing.

SPEAKER_02 14:12

And it was only one lab that does this testing, and it's in Illinois, and it's by the drug company paid for it. So it's amazing that they got it that fast. Just think of the turnaround time for that. And so it came back homozygous, meaning we were both carriers, and he truly had it. It wasn't one of an abnormal mutation, and he luckily his antibodies were zero. So we could so you proceed.

SPEAKER_01 14:42

So in all the IBF testing, they never once pinged on you or your husband both being carriers for anything either. They don't look at that.

SPEAKER_02 14:51

They didn't do any carrier testing. Um my OB didn't do any carrier testing, even though I've heard from a cousin and other people that there are carrier testings that is largely left up to the OB to run. And if you we don't know to ask. And so the only thing I can think of is that my OB didn't do it because he was relying on my IVF doctor to have done it. Oh is the only thing that I can see that fell through the cracks. Otherwise, why wouldn't he? And I've never had the chance to ask him why I don't need, you know, I don't need to answer, but right.

SPEAKER_01 15:31

Just almost for curiosity's sake, but also, I don't know, guiding other future parents who might have to go through this struggle is questions to ask. You know, do we need to look at carrier testing? I have a another friend who I and I told you about, in fact, she's a fellow neighbor of ours. Um, and she and her husband both are recessive carriers, and their son has a completely different disorder than SMA. And uh same thing, they they had no idea until they had a son born with it. So it's one of those things that when you're going through IBF and all the other testing and you're not having a child naturally, I think we make assumptions that, well, doctors would know to check for this. But it's not always common practice. So parents, not saying it would determine if you're gonna have the child or not, but sometimes it would just help to know because as we're gonna talk about here in a minute, earlier diagnosis is so important. And so that's key.

Insurance Battles When Every Day Matters

SPEAKER_01 16:30

All right, so now you have a diagnosis and enters insurance, because now we've got to talk about treatments and gene therapy. We'll talk about the differences of those next. But insurance became the next hurdle. And I think every special needs parent, even just a regular parent, heck, I tried to get an MRI and it took over two months to get approval. And I think insurance is our major hurdle right now.

SPEAKER_02 16:55

Definitely.

SPEAKER_01 16:56

How did how did your team, your doctor team, navigate getting insurance approval, especially when time is of the essence for you guys? And how did you handle that stress?

SPEAKER_02 17:06

So it took three weeks from diagnosis to treatment, and which is still fast. Yeah, which was fast. Yeah. But um, and I think even now when they try to submit even sooner than symptomatic, you know, when they're something else we'll talk about. It was actually pretty fast, but it's nerve-wracking because every day is damage. Every day motor neurons are what we think are dying. That's another avenue. But so every day is damage, and we're just why is it taking so long? Because every day is a week, you know what I mean?

SPEAKER_01 17:41

It's just and you're watching your baby every day struggle.

SPEAKER_02 17:45

So that three weeks was a very long time, and it was denied twice. And so it went to um peer-to-peer review. So our doctor had to talk to the medical director of Aetna. No, it wasn't Aetna at the time, it was Blue Cross, Anthem Blue Cross Blue Shield to discuss um the need for the therapy. The therapy was new. It had only just been FDA approved May of 2019, and this was now January, February 2020. So they're the insurance companies are being cautious, they don't have a lot of data, they only have clinical trials to go off of. And the drug company only did clinical trials on the weaker type of SMA. Which is not Kyle's type. Which is not Kyle's type. He's one's one type higher, stronger. So for the insurance company, he doesn't fit the criteria and he wouldn't benefit from it. Um it was all based on when he became symptomatic. So my doctors were comfortable with who he was talking to, and didn't do didn't say absolute numbers. So he said the right number, he said the right um time frame for being symptomatic, and so then they um approved it so he could become so he could receive the treatment.

SPEAKER_01 19:14

And the treatment, so he started treatment at about what

Physical Therapy That Builds Strength

SPEAKER_01 19:17

age? He got it at 10 months old. 10 months old. When did you start noticing a difference?

SPEAKER_02 19:23

Well, it's it's funny because we swear we saw hours later he sat up from laying down for the first time. We're like, wow, that was fast.

SPEAKER_03 19:32

Yeah.

SPEAKER_02 19:32

But seriously, it was something he had not been able to do. Right.

SPEAKER_01 19:36

So we're not exactly sure how that worked, but that was I think God's little hand going, yay, right? All your struggle and all your stress. I'm giving you a little reward.

SPEAKER_02 19:48

So it's hard to say when we started seeing it because right away, like the next month, we hit started physical therapy. And we did physical therapy twice a week for two years. And that we did medical outpatient, so it was a little more intensive therapy, and he had a wonderful therapist, and she treated him not as like having a weakness disorder, but treated him as a normal infant that had container baby syndrome.

SPEAKER_03 20:20

Oh.

SPEAKER_02 20:21

And the way she described that was that she'd get a lot of patients where parents stored their kids in a playpen. And so they never had the opportunity to get strong and move. And so then they end up in therapy to move and get them stronger. So she's treated him that way. Not that he had a medical condition or diagnosis, but just overall weakness and focused on his core. Because our problems with standing and crawling. Well, in order to stand, in order to crawl, you need a strong core. Yeah. So that was where his weakness was. If he couldn't do those things, his core was weak. Yep. Back and stomach. So that's where she started. And pediatric therapy is play, making him reach for things, do things repetitively, you know, that kind of thing. And so that was two years. The next two years were one day a week. So there was progress. And so we were released from therapy when he started school. It was outpatient medical therapy, not meant to be long term, and four years is long term. Yeah, it's long term.

SPEAKER_03 21:28

Yeah.

SPEAKER_02 21:28

So it was time to go. And so we haven't had physical therapy since. Um, and I don't know if we will, but it was enough. So whatever her plan was got him to walk independently. Wow, that's amazing. As best as he can. It's not a perfect walk. It's not perfect. He can walk, and which is a lot to say for symptomatic SMA children, because even his neurologist says that he is the strongest symptomatic type two. That's great. That he's seen.

SPEAKER_01 22:03

That's amazing. So, what I hear is how much or how important the right doctor is. Your neurologist, being the specialist, knew what to say, knew how to address insurance, knew not to give up. You probably weren't the only case that he had to continuously reapply. Uh, we had that with uh Trevor's endocrinologist and getting Trevor growth hormone and had every year, every year we would get denied at the beginning of the year. And every year he, it was almost the same letter. I was like, we're doing this again. But yeah, it was a constant thing. And the right doctor knowing what to say makes such a difference. And the physical therapist, the right physical therapist, knowing exactly not only how to work with infants and young children, but the right exercises, because she obviously did an incredible job helping him grow his strength.

SPEAKER_02 22:58

And she was his first she he was her first SMA patient. They had had SMA patients in the office before, but they were, you know, assigned to other therapists.

SPEAKER_04 23:09

Yeah.

SPEAKER_02 23:09

And the funny thing is, is that she was not the one that was assigned to us. We got her because the therapist we had been assigned to was had called out or had a had an emergency or something. So she was filling in. She was very protective of pile, and so we didn't go anywhere. Yeah. It was very rare to work with a different therapist. It had to be a good reason.

SPEAKER_01 23:30

Yeah, exactly. Well, it sounds like you found the right people for the right job. And a lot of times that's just a blessing from above because we don't know who we're gonna get until we have a chance to interact with them in that area, right? So that's great. All right.

SMA Terms Plus Type Differences

SPEAKER_01 23:45

Talking about SMA. So let's learn a little bit about spinal muscular atrophy and what it is. So we'll start with when you and I were talking, we kind of started talking about disorder versus genetic condition versus syndrome, all these terminologies that are out there in the medical community and the educational community to define something. And for you, it's a very personal choice. So how do you, how does, how is SMA defined and how do you label it in that area?

SPEAKER_02 24:15

Um, SMA, depending on the site you look it up on, all of the terms are synonymous. Um, condition, syndrome, disease, in disorder. I don't like to call it a disease. Um it's a genetic condition. I don't think it's a syndrome either, because syndrome is more of a maybe a multi-faceted and multi-symptom area where more than one thing is affected. That would is more of what I think a syndrome is. Disease for me is more of something that is contracted and then can be passed, fixed or, you know, contagious kind of situation for definition for me. And so I see it more of a condition or a disorder, because it's a disorder of the neuromuscular system and the central nervous system. So yeah, I don't like to call it a disease, but there are a lot. MDA calls it a disease.

SPEAKER_01 25:22

Okay. Because spinal muscular atrophy, SMA, is under it's under the um muscular dystrophy association umbrella.

SPEAKER_02 25:30

It's a because MDA focuses on all of the conditions, disorders that are neuromuscular and central nervous system based.

SPEAKER_01 25:41

So this one's one branch of that very large tree. Yeah. And there's there's a lot of disorders that are out there that are under umbrellas of other ones, just because a lot of times you need a larger group to help, because it's it's rare to help smaller groups get funding, get research, get access to things. So it would make sense. It's you know, underneath an umbrella of something bigger. It does have similar characteristics and the fact that it affects neuromuscular. So all right. So let's see, you said there were five types, five types of SMA. Can you please describe each of those types?

SPEAKER_02 26:18

Yep, there's five types, type zero through type four.

SPEAKER_04 26:22

Okay.

SPEAKER_02 26:23

And until now, I think they're rewriting that criteria. But right for now, the types determine or some types are determined based on symptoms and onset, age of onset. So type zero is in utero. A lot of times they're not born live. If they are, they don't live for very long because they're just too weak overall, to where their respiratory system can't handle the weakness, and so they suff they drown, they suffocate. Wow. And that's how the older SMAs, how they end up passing away, is from respiratory uh failure. Um most of the time SMA starts at the lower extremities and the weakness makes its way up. Um, and that's how Kyle's was, his is lower extremity.

SPEAKER_01 27:17

Like you said, army crawling.

SPEAKER_02 27:18

Yeah.

SPEAKER_01 27:19

Because lower extremities weren't working right.

SPEAKER_02 27:22

And so type one is the most common. I think like 60% of SMA cases are type one. Um they're diagnosed it some t most of the time they're born with symptoms. So they're the the flaccid baby. They don't move a lot when they're born. Um and then some six months or younger, they have problems. Like they're definitely not moving. Kyle was typical until around that time frame. Type two can be from six months to eighteen months, and then type three is around eighteen months to adolescent, and then type four is adulthood. You can be 50. I'm gonna be 50 and start showing symptoms, which is just general weakness. And that I can only imagine Yeah, at 50, you might assume it's so many other things. So many other things, right? And so I think we do have a 50-year-old that was diagnosed, but most of the time I bet there's they're out there and don't know it because you just think it's age or an injury, or you know, doctors just aren't knowledgeable enough to test for it. Right. It's because SMA was the number one genetic killer of infants. Wow. Until now.

SPEAKER_01 28:38

Until now. And that's the thing. There's been a huge change. Uh and so previously, no one was really looking into it at all, SMA at all, unless there were symptoms. That changed recently. Tell us about that.

Newborn Screening And Early Treatment

SPEAKER_02 28:55

So, newborn screening, it's run by state. Every state has a different panel. Shouldn't be that way, but it is. And when Kyle was born, I think only 18 states were testing for SMA, and Arizona was not one of them. Boo. So in 2023, it would become part of Arizona's panel. And by 2024, all 50 states were testing for SMA. That's great. So that was accomplished. Um and it's the quick, you said it was the heel prick test, right? It's just all part of everything else that they test for with that heel stick.

SPEAKER_01 29:28

Yeah. So that heel stick is really important for future parents. Get the heel stick and it, because again, SMA is something that if you're treated early enough, you actually can go almost without symptoms now.

SPEAKER_02 29:41

Right. So if it's diagnosed at newborn screening, which we are missing some right now with newborn screening, it's false negatives and home birth rates are a lot higher. And a lot of home births, if the midwife agrees or isn't as in tune with the community, they don't send them to the hospital. If you go to the hospital after a home birth, they'll do the panel.

SPEAKER_03 30:07

Okay.

SPEAKER_02 30:08

And we need to push for that because the newborn screening tests for so many different things that the reason they're on that panel is because something can be done about it. Right. Which could be why only 18 states had screening to begin with, because there were no treatments until 2016. Right. It was a progressive terminal condition, which is why it was the number one infant killer. Now there's treatments and something can be done about it. So if it's found on newborn screening, within seven days, even hours, we have a treatment that can be given to slow the progression. So it can't be their only treatment, but it's used as a bridge until they can get gene therapy through insurance.

SPEAKER_01 30:50

Right. So there's treatment, which is medical as far as prescription in nature. Yep. And they're genetics. They're genetic. And there's genetic treatments, which are seen more as a cure.

SPEAKER_02 31:02

Um, not yet. Not yet. Okay. Because if you look at the definition of cure, cure would be eradicating. Okay. SMA. And you can't eradicate unless you modify the genome. So anyone with SMA or carrier can still pass it on. Okay. If we can eliminate that, then it's a cure. But the next best thing to a cure is getting gene therapy, which delivers the gene you're missing, stops the progression of symptoms. And so newborn screening is important. And then within three weeks, you have that bridge until you can get gene therapy. You get it asymptomatically. You never develop symptoms that we know of. That's amazing. Because we only have maybe 12 years of data.

SPEAKER_01 31:44

Right. But it's looking really good. But it looks really good. Yeah. Stay asymptomatic. I mean, for 12 years, that's 12 years of a that's a lot.

SPEAKER_02 31:53

That's the next best thing to a cure because you have stopped symptoms.

SPEAKER_01 31:58

You're you're so involved in the community, you actually know how the gene therapy works.

AAV9 Gene Therapy Explained Simply

SPEAKER_01 32:02

And I found it really fascinating when you told me they use a virus. So how does gene therapy work?

SPEAKER_02 32:08

So they use um a virus as a vector, meaning a deliver, delivery person to the motor neurons in the body to deliver the gene that codes for the protein. And so it's floats around in the body. It never goes inside a cell. And that's why it's theorized to be permanent because it there's no cell regeneration. Right. It's not being cleared through cell autopsis. You know, it just hangs out.

SPEAKER_01 32:40

Yeah, because all our cells die and are re re not reborn. Sorry. They're new cells are made and older cells die. And if it went into the cell, then when the cell died, it would go away. But these don't do that.

SPEAKER_02 32:53

These don't do it. It floats around and produces the protein, and then the motor neurons take that protein and function. It's the protein as the food.

SPEAKER_00 33:03

That's fascinating.

SPEAKER_02 33:04

And so this viral vector is the AAV9. If you remember that term, that's what I used as part of the testing for diagnosis. They test for the antibodies. So it's a benign adenovirus that doesn't cause disease, but it's in the adeno family, and adenoviruses infect the body, like the flu, infect the body systematically, systemically. Wow. And so gene therapy, the way they developed it, it's intravenous, it's an infusion. They chain take out the genetic code for the virus and put in the protein gene.

SPEAKER_01 33:49

Yep.

SPEAKER_02 33:50

And then they just float around and infect the body with the gene for the protein. Wow, that's amazing. So if you have antibodies, you're gonna attack it. And so the therapy won't work. And is there a way to get rid of the antibodies if you have them? So yeah, that's why they test it and they do a tighter, and they have to be below 50, I think, is the number. So it's something that I don't quite know how to describe other than the baby probably got it from the mom because it's an adenovirus. So you just have antibodies and then they wane. And so they wait, just takes time for it to wane. There isn't anything they can give them to do it. And so then that just prolongs treatment.

SPEAKER_01 34:33

Right. It just makes you have to wait a little longer to get the treatment, which can be an it can have a negative effect, can be pretty scary to think about. Uh, but it shouldn't take too long. So it's critical because you're gonna pump the baby with $2.1 million of there's that company coming in going, whoa, do we need this?

SPEAKER_02 34:56

So it's critical that you have uh no antibody to that. Right. You don't want to just kill off the goodness you've just stuck in there. And I want to say there's hundreds of adenovirus varieties, and several of them are already being tested for other therapies, but this one is the first gene therapy to be approved. Wow. That's amazing.

SPEAKER_01 35:20

Holy cow. So so much there. Um, you guys started seeing some changes in Kyle pretty much right away, and Kyle's continuing to grow and develop.

School Life And Daily Care Reality

SPEAKER_01 35:31

How has having SMA for Kyle? How has it impacted Kyle? We'll talk about you and your husband also, but how has having SMA impacted him?

SPEAKER_02 35:41

Um, I would say the the biggest impact is his interaction with his peers. He can't keep up with them. And so his yearning is to run and jump.

SPEAKER_01 35:54

Yeah, like a kid.

SPEAKER_02 35:56

So he can't, his kids will play tag, his friends will play tag, his friends will run away from him, run off to play, and leave him behind. And as he gets older and is understanding and having feelings towards all of that, it's affecting him more now, even though he doesn't know any different, but he's now processing and understanding what all that means. So that's what has impacted him the most. Otherwise, kids are very forgiving and helpful. And so for the most part, his peers help him. They just know to give him a hand, to get up, or carry something, fold the door for him, or they just accommodate themselves. Like they just don't even have to be told.

SPEAKER_00 36:42

That's amazing.

SPEAKER_01 36:44

And what about at school? How has it impacted him at school?

SPEAKER_02 36:47

It really hasn't. Carlson is amazing, it's an amazing school. They welcomed him. We do have a 504 plan, but it's a formality. It's just to make sure everyone's on the same page. But the PE teacher there is amazing. And the district has amazing support. And so far, all of his teachers have been welcoming and like kids express, the director is just like you wouldn't, he you don't even know anything different about him.

SPEAKER_01 37:18

He he's just a kid. That's great. So Chandler Unified School District here in Arizona and Carlson Elementary. So shout out to them for doing such an amazing job because the public school system doesn't always get the kudos. Right. And so this is one of those areas that they're really a shining star in. So we want to say thank you, Chandler. Well, that's great. So I'm glad to hear as far as school goes and everything else, yes, there's social issues. Um, but he's learning to overcome them. And as kids mature, they're gonna learn to overcome those. You know, children are selfish. They're naturally selfish individuals, right? And so half of the time they probably don't even think about the fact that we just ran off without Kyle. And then they look back like, oh, right, we had Kyle here, right? Right. So, you know, that'll probably get a little better as time goes on. And and, you know, hopefully he doesn't end up having a situation with someone who's not so kind. But we know that those happen for families too. Uh, so impacting you and your husband. I mean, it's been a long journey and it's really still the beginning for for you guys and your family. How has having SMA for your son impacted you and your husband?

SPEAKER_02 38:32

Mainly all of the appointments. Right. The time away from work, the time of having to have him somewhere, you know, and just hyper focusing on that. He is on a current treatment that we have to give every day, and I really didn't want to sign him up for something like that at this age, because as far as we know, it's permanent. Gene therapy is one and done.

unknown 38:55

Wow.

SPEAKER_02 38:56

One and done. The very first treatment that was approved is a epidural like really administration. Who wants to do that to a baby? No. Or a child. So unfortunately, that was the only treatment in 2016, and so very many people are still on it because of either fear of losing what they've gained or multitude of reasons. But to me, that would be my last resort. And it's quarterly, I think. So you would think that I would want that, but no. I'll take the the treatment he's on is daily, but it's an oral solution. So it's not a shot, it's an oral solution. An oral solution. And then if he get as he gets older and weighs the proper amount, there's a max, and they now have it in a tablet form.

SPEAKER_03 39:50

Oh, okay.

SPEAKER_02 39:51

Swallow a pill. It's a little easier as we go along. Yeah. So until something else comes along, and there are a lot in the wings that we're waiting for, but at least maybe this one is a long-term bridge. I hope it's not forever. Right. But that's something that you have to take into consideration and really think about what that's gonna do to your child's life, assign signing them up for something that's every day.

SPEAKER_01 40:15

Right. Every day. And in addition to that, the idea that Kyle just missed the gene therapy window. That he was just too old or too young, or what was it? Like he wasn't able to get one of the therapies.

SPEAKER_02 40:32

Um, no, there's another another SMA child in town. And he was two weeks too old to get gene therapy. Two weeks. Oh my god from diagnosis.

unknown 40:41

Yeah.

SPEAKER_02 40:42

Two weeks. Wow. And it matters because of that virus. It's volume based. And so they know based on weight, how much, how many gene particles the body needs. And then that's viral particles that it needs. So that's why that matters so much, that time frame. So two and two and younger get gene therapy, and that's it.

SPEAKER_04 41:06

That's it.

SPEAKER_02 41:07

Early diagnosis is why early diagnose matters as well. Because two years and that's it, um, the virus is toxic because the liver has to clear the virus from the body, and so it's overload. Oh yeah. So if you weigh more older it you don't want to compromise your organs. So that's why they have that criteria. Interesting.

SPEAKER_01 41:34

And you said that they're hoping to actually they're well, they're doing studies right now and they're hoping to increase that age group though.

SPEAKER_02 41:42

Yes, actually in October they approved gene therapy for two years and older.

SPEAKER_04 41:48

Okay.

SPEAKER_02 41:48

And it's a lumbar injection. It's an epidural, but it's one time. But it's one time. One and done. But it went through all the trials and it got FDA approved, I believe, last October. So that's amazing. Yay! So much hope for so many people. Yes. You know, it stops the progression. And like I said, every day is damage. So the older you are, the more damage you've had. Right. So you're probably not going, they're not going to see the same improvements. But hey, they're getting weaker every day too. Right. And so this stops that. Stops that. Wherever it is, it stops it in its traps.

SPEAKER_01 42:30

You told me that when Kyle was younger, because of his SMA, one of the conversations you and your husband had was, do I roughhouse? Because it's a dad and he's got a boy. Do I roughhouse with Kyle? Because it's just a natural dad instinct. I mean, my husband and one of my sons were wrestling in the living room the other night, and I'm sitting here going, It's bedtime. But that's how they get ready for bed, right?

SPEAKER_02 42:56

He always does it right before bed.

SPEAKER_01 42:58

Always. Every slack time. Don't get them all riled up. Amen. Amen. Oh my gosh. I think it's a common mother versus father-son dynamic. Seriously. So that was a discussion you guys actually had. And you said your doctor had an opinion on it.

SPEAKER_02 43:15

Yeah, yeah. So I I brought it up to probably the neurologist. Um, you know, he's weak and so he can't resist forces. That's his biggest thing. Kids can bump into him and he's gonna fall over. He can't like step resist. He can't like change his force to, you know, can't talk.

SPEAKER_01 43:37

Yeah. So it's fine. I get what you're saying. It can't resist.

SPEAKER_02 43:41

And have opposing forces, he's going to go in the direction of the force. And so I was like worried about um dad being much bigger and stronger, rough housing with him, like breaking something, or you know, right, hurting him because he can't fight back, if you will, with his body. And so His doctor was basically, no, I don't want to discourage that because that will it's teaching him to fight back. And it's almost like a form of exercise. It's a little extra PT. To push back. He his body will want to oppose those forces. And so it's another form of PT.

SPEAKER_01 44:21

That's awesome. That's great. So dad was like given the green light. Yeah. Go and have all the father-son wrestling fun that you can have, right? All right.

Cure SMA Support And Capitol Advocacy

SPEAKER_01 44:31

So you are one of the ways it changed your life is you have become very active in Cure SMA. And it that's an organization that specifically focuses on trying to help families as well as communication with the medical community. So can you tell us a little bit about what is Cure SMA?

SPEAKER_02 44:51

Cure SMA is an organization for the community. It started in 1984. So SMA. It's not that old. No. SMA was first discovered in the late 1800s and didn't know it had a genetic component until late 90s.

SPEAKER_03 45:06

Okay.

SPEAKER_02 45:07

So the medical community knew of SMA, but couldn't do anything. So this organization started in 84 by the families.

SPEAKER_04 45:16

Mm-hmm.

SPEAKER_02 45:18

Um, wanting to bring everyone together and advocate. Yeah. So they their number one thing is providing research grants to scientists that will do focus their research on finding a cure for SMA. So that's their biggest um source for funding. But they also support the families. Um they have a lot of programs. They have a travel SMA, traveling with SMA kit. They have a teenager kit, they have all kinds of things. They've have a lot of literature and programs to get kids situated in college, going to college with SMA, what all that looks like. Kind of neat. But the best thing is newly diagnosed program that they have where diagnosis day. You get this diagnosis. And you had asked me this. In the office when we were diagnosed, MDA was there. Oh they signed us up to be on the MDA registry, all that. I don't remember how I got in contact with Cure SMA if they did the same thing Slater or if I reached out to them. I'm pretty sure they reached out to me.

SPEAKER_04 46:30

Okay.

SPEAKER_02 46:30

Um but newly diagnosed, they send a care package. And I'm not talking a little care package. I'm talking like your Amazon, a refrigerator box care package. And it had a they send you age-appropriate toys, art supplies, um, living supplies, which they now need to change their focus. Cause like I got a like a lumbar support roll and a sheepskin, mat, you know, and but all of those were necessary for those that are no longer going to move and need right at the time body support, you know, all that stuff. So some of it, even at our point, was inappropriate or I didn't need, and so I found people to give them to. But just the fact of all of the adaptive toys and everything to make the babies and families forget about their diagnosis. Yeah. And give them all kinds of fun stuff. That's awesome. So it was like this big Christmas present of stuff, you know, which is amazing. And then they also sent us a little red wet, little red rider wagon. Oh, I'm sure that's necessary. Use that a lot. Yeah. Easy to get around. Because they're not going to walk and you can't carry them. Yeah. Get to a point where you can't carry them. Mm-hmm. And so wagons, and so yeah, they sent us a wagon. They also provide grants for families to attend their annual meeting.

SPEAKER_03 47:57

Oh, neat.

SPEAKER_02 47:58

So that families can be connected. Um, so they help pay for that because it's not cheap. Yeah. So they have travel grants and they have they waive the registration. At the conference, the kids don't go to the meetings. They have a daycare.

unknown 48:12

Oh.

SPEAKER_02 48:12

So parents can like express drop the kids off. Yep. They have all kinds of activities and a million volunteers.

unknown 48:20

That's amazing.

SPEAKER_02 48:21

And then the parents are off learning at the meeting. So they provide all of that.

SPEAKER_01 48:28

That is amazing. So they're really there for the families, as well as that piece of the medical community. They're connecting with doctors, they're looking for research funding. They're looking for researchers, people who want to, you know, actually do this research and everything else. So it sounds like they really have it really well put together. You joined the organization here in Arizona, and you really help run some things here for that fundraising. But you've also, didn't you attend the national conference recently? I thought I saw you attend something recently.

SPEAKER_02 49:01

Yes. So yes, I'm on the chapter board for Arizona. Most states have a chapter. There are some states, some chapters that cover multiple states. Okay. Just depending on the population. Um, but yeah, we have an Arizona chapter, and we're just a board of moms and one friend that support Arizona families and support national office as they call it. Continue with their efforts. Yeah. So one of the things that we do is leadership and advocacy. And so we I was able to participate in some of that advocacy last year where they have Hope on the Hill, which was started by an SMA family. And they brought us to DC and uh educated us on what to say and what we were focusing on. It was two bills that had to do with uh SMA research and uh disability access to disability resources. Those were on the line at our current Congress. So we they set us up with our individual states representatives and Senate offices so that we were meeting they were meeting with their constituents. Oh neat. We weren't just QSMA representatives meeting with Congress. We were actually uh representing ourselves to our own people so that they had a face to, you know, they had to listen to us because they listened to their constituents, you know. So I really appreciated um that organization of the advocacy. Right.

SPEAKER_01 50:44

It made it made so much more sense, right? Yeah, it made it personal, it brought it down to a real level, a human level, not an organization versus government level.

SPEAKER_02 50:53

Exactly. So when we signed up, they did that research to put us with the right people because there were Arizona representatives that we didn't meet with. Um, so we weren't able to meet with everyone, but there were three of us and we met with the ones that represented us. That's great. And so that was awesome. And one of the the research bill has been signed into law.

SPEAKER_04 51:18

Woohoo!

SPEAKER_02 51:19

So that one worked. The disability resource one is is still out there. It's still out there. Everything else.

SPEAKER_01 51:25

Yep. I I resource funding. I've heard a lot about that one still being talked about. So well, hopefully we continue. I mean, advocates like you and your family and the group that you're with. Yeah, we really need that. All disability parents need that because, like you said, you're not just looking at SMA when you're there doing that, you're looking at the disability community. So I thank you for that. As a mom of a kid with disabilities, I thank you for that. Because that's I've I've never done that kind of work. And it it absolutely sounds like it's exhaustive and purposeful. Yeah. And so thank you for doing all of that. Uh, let's see. So one of the things you told me about is there's an upcoming, was it a, I almost wanted to say a ball, but it's not a ball. Gala. Gala. There we go. That's the word I couldn't find. There's an upcoming gala, um, and it's for SMA to help with all the funding for all the things that you guys do. And so you have this gala upcoming, and uh, tell us a little bit about what that's about.

SPEAKER_02 52:27

Yes, we have two annual fundraisers for Arizona. We try to do individual fundraising, but we have two uh, I guess, nationally sponsored events. We have a walk and roll, so it's kind of your normal annual walk or something kind of thing. And then we have our gala in April. And um, it has evolved through the years where it was just a gathering at well started. I think originally before I was involved, it was like a wine and art event. Okay. But then those connections go away after time. And then it was just a gathering at a bar. You know, so you're kind of limited to who wants to go hang out at a bar and donate money and kind of thing. So it was pretty low-key and low funding, low fundraising. Right. So last year we took a leap of faith and said, let's shoot for the stars and see what we can do different. And without too we doubled the ticket cost, but just doing that, our cost didn't change as much. And we were able to raise $70,000. That's incredible. With just changing the venue. We went from a bar to a ballroom. Yep. And it was a very magical night, and people were very generous. And I've already seen a lot of the same people coming back. Yay! So it's a good sign. It was a good thing. Yeah, people enjoyed themselves, and so we are now tasked with raising $100,000 for one event. Incredible, yeah. From $2,200 to $100,000 in two years. It's incredible, is what we're tasked with. But we went from two to 70 in one year. So you can you've got an incredible team, it sounds like we do. We have an amazing committee, and we just our outreach and connections, we our efforts are amazing, uh, more than I can imagine anyone can do individually.

SPEAKER_01 54:32

There's there's a passion as a special needs parent, right? And I think it drives us. It definitely drives us. Speaking of that passion, you you educated me about the Ryan House, and that is only an Arizona thing, but it's a great idea for anyone else out

Ryan House Respite And Final Advice

SPEAKER_01 54:49

there. What is the Ryan House?

SPEAKER_02 54:51

Ryan House is a respite house for um anyone, any disabled family can send their kids to this house. It's in central Phoenix, I believe. I haven't been there yet, to for a vacation. So like the whole family can stay there and so that way they can be a family because they provide the caregiving and you can put that aside and just do fun things as a family. Just be a parent. Or if the parents need to go to a funeral or need a vacation, they can send their kids to this house and have the proper caregiving while they can get away and have that respite.

SPEAKER_01 55:36

They can know their child has medical care as well as you know, whatever the accommodations or the modifications of living are for their child with special needs.

SPEAKER_02 55:45

And it was started by an SMA family. Their SMA family son is no longer with us, and I think that was their driving force as well. They stay connected to us with our community and help us out as well. But their mission was to help the disability community by providing Ryan House and that their son Ryan.

SPEAKER_01 56:08

Yep, their son Ryan. So that is an honor to him in a way that we definitely, you know, and any of us who have had a loss in our life, we know that it's it's meaningful to us that are still here to find a way to honor that person in our life. And that was such a great way that they found to honor their son. That's amazing. All right, so enclosure. Any last-minute thoughts that you have for special needs parents out there, SMA or not, as far as just navigating medical life, parenting, anything that you little nugget of wisdom that you can leave us with.

SPEAKER_02 56:44

It's not easy. And it's not going to be. You have to, you're constantly advocating. So always have your boots to the ground because that's your life. Your life is now an advocate. And just you don't have anyone on your side. No one is looking out for you or your kids. You have to look out for them.

SPEAKER_00 57:07

Yeah.

SPEAKER_02 57:08

So you can trust your doctors, you can lean on them, but you are still on high alert. You have to advocate, you have to be aware of everything at any time. Yep. Yep. And it doesn't have to be lonely. No, we're out there. Find a community. Our neurologist says we are the SMA mafia. I love that. Because he swears we find each other before he does. That's amazing, though. As a HIPAA, he's not allowed to tell us about new families. Oh my gosh, that's true.

SPEAKER_00 57:42

Yeah.

SPEAKER_02 57:43

So we find them. Cure SMA reaches out to them and then tells them that they have a chapter. But then it's up to that family of whether they want to be involved or need the support because there are families that don't want to be involved.

SPEAKER_01 57:56

There are. And I remember that with Trevor having KBG, where Arizona is one of the largest populations of known KBGers, mainly because of Phoenix Children's Hospital. And same thing. We know that there are families out there that just don't want to be involved. And that's that's their personal choice. And that's great. Uh it's just if you need support. It's out there.

SPEAKER_02 58:17

It's out there.

SPEAKER_01 58:17

It's out there. Go find it. Even if it's not SMA, if you don't even contact, if you're listening to this and you're going, I my kid has something else, contact cure SMA and say, my kid doesn't have that, but I need help finding a community. SMA is moms. They'll help you. Yep. You know, they wanna, they wanna, I think we all, we all just, if you we're gonna volunteer, we all want to be together. We want to help out everyone out there to help find those resources. And like you said, trust your gut because you are the advocate for your child. You are it, and it's it's not easy, but man, it's rewarding. It is rewarding in the end when you see those changes, when you see those miracles take place in our kids. Or adult children.

SPEAKER_02 59:00

And to bring them together because children want to find something like them.

SPEAKER_04 59:06

Yes.

SPEAKER_02 59:07

Don't we? So we bring Kyle together with his fellow SMA kids because there are a few in town his age and they're BFFs. So it's yeah, it's important to find your community that you do belong to. I mean, you don't have to relate to them for everything, but you do have that one thing in common. It's the community you never wanted to be a part of. Yeah. Never thought you would be.

SPEAKER_01 59:31

But the blessing you never knew was coming and maybe didn't see as a blessing at first. But yep, that's wonderful. Well, Melanie, thanks so much for joining me today.

unknown 59:41

Thank you.

SPEAKER_01 59:41

And I am really excited to see Kyle again soon. So we'll definitely be getting together. Thank you everyone for joining us today on the special parent podcast. There is a lot of information, and all of the connections for Cure SMA will be on my website. And if you need anything, reach out. There's always a community here for you. And remember, you've got this.