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

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Hello, everyone, and welcome back to the special parent podcast.
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I'm your host, Dr.
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Deanna Iverson, and I'm here with a good friend of mine, Melanie.
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Hi, Melanie.
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Welcome to my podcast.
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Hi.
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Thank you for having me.
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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.
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So Melanie has a son named Kyle.
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He is a wonderful little boy and we love him to death.
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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.
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So, Melanie, first of all, just tell us a little bit about Kyle.
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Who is Kyle?
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Kyle is six, soon to be seven next week.
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Oh my gosh.
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He's in first grade.
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He loves school for the people, for the playing.
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Um, but he's very good at school.
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That's great.
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Um he gets around, he's very active.
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He doesn't still, you would never know he had a muscle weakness disorder the way he moves.
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He walks a little funny, but he walks.
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But most of the time, nobody even notices that there's anything wrong with him.
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That's amazing.
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I'm so glad to hear that.
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So Kyle's disorder, and I want to make sure I say it right, spinal muscular atrophy, also known as SMA.
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And so that's what your shirt is for today.
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And we'll talk a little bit about the foundation with that too as we go on.
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So spinal muscular atrophy.
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A little bit about um like Kyle having that, when did you learn Kyle was had SMA?
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Um, SMA is a neuromuscular disease where they are missing the protein needed for motor neurons to communicate with muscles to function.
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So if your muscles don't have this protein to communicate, they atrophy.
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And so that was what was happening to him.
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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.
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He never crawled.
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Um, he only crawled with his arms.
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And um he would be sitting in his high chair and then kind of just fall to the side.
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Like he couldn't sit upright.
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And I was having him sit on the floor to take Christmas pictures, and he would just fall over.
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I couldn't get him to sit up.
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Wow.
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And so I just knew something wasn't off.
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It was something was off.
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And it so it showed up for him pretty early.
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Um, and and what we're gonna talk a little bit about when we talk about SMA is there are different types.
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You you educated me on that.
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So thank you for that.
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I did not realize that.
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That was awesome.
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Um, so Kyle has a little bit of a story for how Kyle came to be.
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Uh, you were telling me that you and your husband had to go through IVF.
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So, can you tell us a little bit about that story and how that impacted your family?
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Um, yeah, we're older parents, so nature wasn't doing its thing and needed intervention.
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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.
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Wow.
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From the fourth round.
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So, because that was gonna be my last round, and because you can only do so much and it's very expensive.
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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.
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As we now know, he was more than 25% because it was normal for the abnormality that was detected, and he became a human.
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Yep, there and here he is.
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Here is Kyle.
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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.
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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.
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And so and that I found that so interesting.
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You said that they detected a disorder, but then the disorder really wasn't an issue.
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Nope.
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They didn't detect the disorder that is the issue until well after.
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So, yeah, very interesting.
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All right.
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So, and then your birth story.
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You had quite an interesting birth story.
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It just seems like the world really wanted Kyle to come into it with as much of a hiccup as possible.
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Pretty much.
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Um, I went full term three days past.
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Um, my doctor wanted to induce a week early.
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And I fought.
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And he said, okay, we'll compromise because I won't go past 41 weeks, so we'll go with 40.
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We'll go with your due date.
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Okay.
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And the hospital was full.
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Everybody liked your due date.
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Put me at the bottom of the list.
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And so two days later, they called me in to induce, and it didn't really do anything.
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So I was there for two days waiting.
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Then my water broke.
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And because of that detected genetic potential disorder, I had an extra care team on site.
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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.
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So much for privacy and intimate moment on that one, huh?
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Yeah.
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So I didn't get that time.
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So he was in the NICU for five days.
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Um he had a CPAP at first.
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We think of that for older people, but the same idea, just an infant-sized one.
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Yeah, very tiny mask on his face.
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Um, but he was doing just fine.
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He didn't have that for very long.
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Um the nurses loved him even back then.
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They're like, he's on a schedule and he knows when he's hungry and he knows when he wants to eat.
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That's great though.
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Hells us when he told he was loud.
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He was very loud.
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But low maintenance, how's that?
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But they tried to keep him longer and with some mix-ups that were never proven, we finally were able to take him home.
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Wow.
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That was probably such a relief.
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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.
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And then Yeah, everything was going fine.
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Everything was going fine until it wasn't.
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So some of the first signs you started noticing slouching in his seat, not able to stand.
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He was at first, and then he lost the ability.
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So a regression in skills, um, not able to stand.
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You had talked about you brought these up to your pediatrician.
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Yeah.
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And how did that go?
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So, you know, um, the first year you go every month for well checkups.
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And then if they're sick, you go for those appointments.
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And those five, six, seven months old, he, you know, had your typical probably infant colds being in daycare.
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And so we were there more than once a month.
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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.
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And the doctor tried to say that not all our kids are on their own timeline, they'll stand when they want to stand.
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So then we're first-time parents, don't want to freak out over everything.
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Right.
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And try to just stay observant.
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But then when it was getting worse, it wasn't like fast, progressive, but it was getting worse.
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You know, uh, it was noticeably worse, but it could have been stronger.
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Um, we brought it up again, and finally the pediatrician heard me when I said used to.
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Yeah.
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Those words mean regression.
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And so he tested Kyle's uh knee reflexes and he didn't have any.
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Nuts, a hallmark symptom.
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There's no reflexes.
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Wow.
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I and we always wonder, right?
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How many times have those of us who are tip neurotypical-ish sat there and they dunk your knee, right?
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And you kick, and everyone's like, Why do they do this?
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Now we know.
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Exactly.
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They're testing your neuromuscular system.
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Wow.
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Okay.
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And how he was, you said seven to nine months around that time.
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I remember with my middle son with Trevi, uh, with Trevor, we went to the doctor.
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And there were so many times I brought up, you know, he just doesn't seem to be doing this.
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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.
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And so many times I felt doctors did not listen to me.
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They did not really hear, and I got the exact same thing you got.
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Totally different doctors, by the way, everybody, different doctors.
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I got the exact same words you got.
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Oh, everyone develops on their own curve.
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He's just on his own curve.
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And so it you just kind of you're okay, you trust your doctors, right?
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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.
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Advice for parents on if there's just something gnawing at you and you feel like you're getting dismissed.
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Take it with a grain of salt.
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Listen, take, you know, be cautious with that too, but be proven wrong.
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I love that statement.
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That's my favorite statement.
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Be proven wrong.
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It's not this is what I think.
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Something's not right, prove me wrong.
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Right.
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Don't don't convince me it's wrong.
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Don't try to tell me why you think it's wrong.
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Prove me wrong.
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There you go.
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That's a great one.
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Because both you and I were proven right.
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So, and there are probably are people who were proven wrong, and that's great.
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Exactly.
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But at least make them prove you wrong.
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I love that.
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I love that so much.
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Uh, and so now the doctor sends you to, was it a neurologist you said?
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So the pediatrician sends you to the neurologist.
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And how did that go?
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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.
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This was December.
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And so we're like, okay, but now you have us worried because you're referring us to somebody.
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Right.
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He didn't give us any of his, you know, thoughts that he was thinking could be wrong.
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So we're okay, you know.
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Dan did research.
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I tried not to.
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I understand that.
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I'm sure I did some too, but um SMA was on Dan's radar.
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I Dan is dad, by the way, everybody.
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Dan is dad.
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I I hadn't found it yet.
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Um, but we our pediatrician said the right words somehow.
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That's what our neurologist said.
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He used the right words and he got my attention, and we were in in three weeks.
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Then three weeks.
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That was probably a little bit of a red flag to you, wasn't it?
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When he said it could be months and now it's well, we got him right away, yeah.
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Right away.
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And then he, you know, examined him, did the reflexes, you know, whatever.
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This neurologist is the SMA doctor in town.
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Okay.
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And he's older.
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So he's he knows all the SMA patients in town.
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He's been doing this for a while.
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So he knew what he was looking at.
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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?
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That's what you gotta wonder, right?
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What it looked like on that other end to get their attention.
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Right.
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Because there's a ton of neurologists.
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Oh yeah.
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Phoenix children's, but this was the SMA one.
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Specialist, the guy who knew what he was doing.
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It's not like we got bounced between neurologists.
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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.
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But I'm not 100% sure.
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Which was maybe he was just being cautious to not Yeah, worried at the same time.
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Right.
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He didn't want you to leave that appointment an absolute freak out.
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Right.
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But wanted you to be aware he he needed to move forward with some testing.
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And now you said he did a really amazing thing for you, this neurologist.
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He not he didn't take things one step at a time.
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He was like, if it is this, we already need to know this next piece.
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So he did both tests at the same time.
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Explain that a little bit.
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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.
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So they order both tests at the same time, and usually it doesn't work that way.
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You get diagnosed, and then you gotta come back and get tested further.
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He did it at the same time, and this was a Tuesday.
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We had an answer by Friday.
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That's amazing.
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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.
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So it's amazing that they got it that fast.
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Just think of the turnaround time for that.
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And so it came back homozygous, meaning we were both carriers, and he truly had it.
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It wasn't one of an abnormal mutation, and he luckily his antibodies were zero.
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So we could so you proceed.
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So in all the IBF testing, they never once pinged on you or your husband both being carriers for anything either.
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They don't look at that.
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They didn't do any carrier testing.
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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.
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And if you we don't know to ask.
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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.
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Oh is the only thing that I can see that fell through the cracks.
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Otherwise, why wouldn't he?
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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.
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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.
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You know, do we need to look at carrier testing?
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I have a another friend who I and I told you about, in fact, she's a fellow neighbor of ours.
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Um, and she and her husband both are recessive carriers, and their son has a completely different disorder than SMA.
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And uh same thing, they they had no idea until they had a son born with it.
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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.
00:16:13.360 --> 00:16:15.440
But it's not always common practice.
00:16:15.600 --> 00:16:27.519
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.
00:16:28.399 --> 00:16:29.759
And so that's key.
00:16:30.080 --> 00:16:39.759
All right, so now you have a diagnosis and enters insurance, because now we've got to talk about treatments and gene therapy.
00:16:39.840 --> 00:16:41.600
We'll talk about the differences of those next.
00:16:41.759 --> 00:16:44.000
But insurance became the next hurdle.
00:16:44.080 --> 00:16:51.039
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.
00:16:51.440 --> 00:16:54.960
And I think insurance is our major hurdle right now.
00:16:55.200 --> 00:16:55.840
Definitely.
00:16:56.080 --> 00:17:03.840
How did how did your team, your doctor team, navigate getting insurance approval, especially when time is of the essence for you guys?
00:17:03.919 --> 00:17:05.759
And how did you handle that stress?
00:17:06.160 --> 00:17:12.240
So it took three weeks from diagnosis to treatment, and which is still fast.
00:17:12.480 --> 00:17:13.759
Yeah, which was fast.
00:17:13.920 --> 00:17:14.400
Yeah.
00:17:14.720 --> 00:17:23.200
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.
00:17:24.000 --> 00:17:28.559
It was actually pretty fast, but it's nerve-wracking because every day is damage.
00:17:29.119 --> 00:17:32.720
Every day motor neurons are what we think are dying.
00:17:32.960 --> 00:17:34.160
That's another avenue.
00:17:34.400 --> 00:17:39.200
But so every day is damage, and we're just why is it taking so long?
00:17:39.279 --> 00:17:41.039
Because every day is a week, you know what I mean?
00:17:41.119 --> 00:17:45.359
It's just and you're watching your baby every day struggle.
00:17:45.680 --> 00:17:49.920
So that three weeks was a very long time, and it was denied twice.
00:17:50.400 --> 00:17:53.519
And so it went to um peer-to-peer review.
00:17:53.920 --> 00:17:56.960
So our doctor had to talk to the medical director of Aetna.
00:17:57.119 --> 00:18:06.799
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.
00:18:07.200 --> 00:18:08.240
The therapy was new.
00:18:08.960 --> 00:18:17.039
It had only just been FDA approved May of 2019, and this was now January, February 2020.
00:18:17.680 --> 00:18:23.039
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.
00:18:23.680 --> 00:18:28.880
And the drug company only did clinical trials on the weaker type of SMA.
00:18:29.200 --> 00:18:30.400
Which is not Kyle's type.
00:18:30.640 --> 00:18:31.599
Which is not Kyle's type.
00:18:31.680 --> 00:18:34.160
He's one's one type higher, stronger.
00:18:34.880 --> 00:18:40.960
So for the insurance company, he doesn't fit the criteria and he wouldn't benefit from it.
00:18:42.480 --> 00:18:46.960
Um it was all based on when he became symptomatic.
00:18:48.160 --> 00:18:59.200
So my doctors were comfortable with who he was talking to, and didn't do didn't say absolute numbers.
00:18:59.680 --> 00:19:13.920
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.
00:19:14.240 --> 00:19:17.519
And the treatment, so he started treatment at about what age?
00:19:17.839 --> 00:19:19.599
He got it at 10 months old.
00:19:19.839 --> 00:19:20.640
10 months old.
00:19:20.799 --> 00:19:23.279
When did you start noticing a difference?
00:19:23.839 --> 00:19:30.319
Well, it's it's funny because we swear we saw hours later he sat up from laying down for the first time.
00:19:30.559 --> 00:19:31.920
We're like, wow, that was fast.
00:19:32.160 --> 00:19:32.319
Yeah.
00:19:32.559 --> 00:19:35.359
But seriously, it was something he had not been able to do.
00:19:35.599 --> 00:19:36.160
Right.
00:19:36.640 --> 00:19:43.599
So we're not exactly sure how that worked, but that was I think God's little hand going, yay, right?
00:19:43.920 --> 00:19:45.759
All your struggle and all your stress.
00:19:45.839 --> 00:19:47.519
I'm giving you a little reward.
00:19:48.400 --> 00:19:56.160
So it's hard to say when we started seeing it because right away, like the next month, we hit started physical therapy.
00:19:56.720 --> 00:19:59.680
And we did physical therapy twice a week for two years.
00:19:59.920 --> 00:20:20.720
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.
00:20:20.880 --> 00:20:21.039
Oh.
00:20:21.359 --> 00:20:27.200
And the way she described that was that she'd get a lot of patients where parents stored their kids in a playpen.
00:20:28.319 --> 00:20:31.279
And so they never had the opportunity to get strong and move.
00:20:32.079 --> 00:20:37.359
And so then they end up in therapy to move and get them stronger.
00:20:37.599 --> 00:20:39.519
So she's treated him that way.
00:20:39.599 --> 00:20:46.319
Not that he had a medical condition or diagnosis, but just overall weakness and focused on his core.
00:20:46.559 --> 00:20:49.440
Because our problems with standing and crawling.
00:20:49.680 --> 00:20:53.440
Well, in order to stand, in order to crawl, you need a strong core.
00:20:53.759 --> 00:20:54.400
Yeah.
00:20:54.880 --> 00:20:56.880
So that was where his weakness was.
00:20:56.960 --> 00:20:59.440
If he couldn't do those things, his core was weak.
00:20:59.599 --> 00:21:00.000
Yep.
00:21:00.240 --> 00:21:01.440
Back and stomach.
00:21:01.519 --> 00:21:02.880
So that's where she started.
00:21:03.119 --> 00:21:11.599
And pediatric therapy is play, making him reach for things, do things repetitively, you know, that kind of thing.
00:21:11.839 --> 00:21:14.319
And so that was two years.
00:21:14.480 --> 00:21:17.200
The next two years were one day a week.
00:21:17.599 --> 00:21:18.880
So there was progress.
00:21:19.119 --> 00:21:22.079
And so we were released from therapy when he started school.
00:21:22.960 --> 00:21:27.359
It was outpatient medical therapy, not meant to be long term, and four years is long term.
00:21:27.519 --> 00:21:28.400
Yeah, it's long term.
00:21:28.480 --> 00:21:28.720
Yeah.
00:21:28.880 --> 00:21:29.920
So it was time to go.
00:21:30.000 --> 00:21:32.240
And so we haven't had physical therapy since.
00:21:33.279 --> 00:21:37.279
Um, and I don't know if we will, but it was enough.
00:21:37.359 --> 00:21:42.720
So whatever her plan was got him to walk independently.
00:21:43.279 --> 00:21:44.480
Wow, that's amazing.
00:21:45.119 --> 00:21:46.000
As best as he can.
00:21:46.160 --> 00:21:46.960
It's not a perfect walk.
00:21:47.200 --> 00:21:47.839
It's not perfect.
00:21:48.319 --> 00:21:59.680
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.
00:22:00.799 --> 00:22:01.519
That's great.
00:22:01.759 --> 00:22:02.960
That he's seen.
00:22:03.200 --> 00:22:03.920
That's amazing.
00:22:04.079 --> 00:22:10.079
So, what I hear is how much or how important the right doctor is.
00:22:10.640 --> 00:22:17.359
Your neurologist, being the specialist, knew what to say, knew how to address insurance, knew not to give up.
00:22:17.599 --> 00:22:22.319
You probably weren't the only case that he had to continuously reapply.
00:22:22.559 --> 00:22:33.039
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.
00:22:33.119 --> 00:22:35.440
And every year he, it was almost the same letter.
00:22:35.519 --> 00:22:37.279
I was like, we're doing this again.
00:22:38.480 --> 00:22:40.480
But yeah, it was a constant thing.
00:22:40.559 --> 00:22:44.400
And the right doctor knowing what to say makes such a difference.
00:22:44.640 --> 00:22:57.839
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.
00:22:58.160 --> 00:23:02.160
And she was his first she he was her first SMA patient.
00:23:02.319 --> 00:23:09.200
They had had SMA patients in the office before, but they were, you know, assigned to other therapists.
00:23:09.359 --> 00:23:09.599
Yeah.
00:23:09.839 --> 00:23:12.880
And the funny thing is, is that she was not the one that was assigned to us.
00:23:13.039 --> 00:23:20.319
We got her because the therapist we had been assigned to was had called out or had a had an emergency or something.
00:23:20.640 --> 00:23:22.720
So she was filling in.
00:23:23.119 --> 00:23:26.079
She was very protective of pile, and so we didn't go anywhere.
00:23:26.240 --> 00:23:26.559
Yeah.
00:23:26.799 --> 00:23:28.880
It was very rare to work with a different therapist.
00:23:28.960 --> 00:23:30.079
It had to be a good reason.
00:23:30.240 --> 00:23:31.359
Yeah, exactly.
00:23:31.839 --> 00:23:34.640
Well, it sounds like you found the right people for the right job.
00:23:34.799 --> 00:23:42.079
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?
00:23:42.480 --> 00:23:43.599
So that's great.
00:23:43.920 --> 00:23:44.559
All right.
00:23:45.519 --> 00:23:46.880
Talking about SMA.
00:23:46.960 --> 00:23:51.279
So let's learn a little bit about spinal muscular atrophy and what it is.
00:23:51.440 --> 00:24:06.480
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.
00:24:06.720 --> 00:24:09.680
And for you, it's a very personal choice.
00:24:09.920 --> 00:24:15.279
So how do you, how does, how is SMA defined and how do you label it in that area?
00:24:15.839 --> 00:24:21.279
Um, SMA, depending on the site you look it up on, all of the terms are synonymous.
00:24:21.920 --> 00:24:27.759
Um, condition, syndrome, disease, in disorder.
00:24:28.079 --> 00:24:30.559
I don't like to call it a disease.
00:24:31.119 --> 00:24:33.920
Um it's a genetic condition.
00:24:34.640 --> 00:24:48.960
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.
00:24:49.599 --> 00:24:52.559
That would is more of what I think a syndrome is.
00:24:52.960 --> 00:25:06.720
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.
00:25:07.119 --> 00:25:15.839
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.
00:25:17.039 --> 00:25:20.079
So yeah, I don't like to call it a disease, but there are a lot.
00:25:20.240 --> 00:25:21.839
MDA calls it a disease.
00:25:22.079 --> 00:25:22.400
Okay.
00:25:22.640 --> 00:25:30.240
Because spinal muscular atrophy, SMA, is under it's under the um muscular dystrophy association umbrella.
00:25:30.319 --> 00:25:40.799
It's a because MDA focuses on all of the conditions, disorders that are neuromuscular and central nervous system based.
00:25:41.200 --> 00:25:43.599
So this one's one branch of that very large tree.
00:25:44.160 --> 00:25:44.400
Yeah.
00:25:44.559 --> 00:26:00.240
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.
00:26:00.400 --> 00:26:01.519
So it would make sense.
00:26:01.680 --> 00:26:04.160
It's you know, underneath an umbrella of something bigger.
00:26:04.400 --> 00:26:09.359
It does have similar characteristics and the fact that it affects neuromuscular.
00:26:09.599 --> 00:26:10.880
So all right.
00:26:11.200 --> 00:26:16.480
So let's see, you said there were five types, five types of SMA.
00:26:16.720 --> 00:26:18.640
Can you please describe each of those types?
00:26:18.880 --> 00:26:22.480
Yep, there's five types, type zero through type four.
00:26:22.640 --> 00:26:22.960
Okay.
00:26:23.440 --> 00:26:28.000
And until now, I think they're rewriting that criteria.
00:26:28.400 --> 00:26:37.519
But right for now, the types determine or some types are determined based on symptoms and onset, age of onset.
00:26:38.400 --> 00:26:41.519
So type zero is in utero.
00:26:41.759 --> 00:26:43.440
A lot of times they're not born live.
00:26:43.839 --> 00:26:57.200
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.
00:26:57.440 --> 00:26:57.680
Wow.
00:26:57.920 --> 00:27:04.559
And that's how the older SMAs, how they end up passing away, is from respiratory uh failure.
00:27:05.519 --> 00:27:13.119
Um most of the time SMA starts at the lower extremities and the weakness makes its way up.
00:27:13.920 --> 00:27:17.279
Um, and that's how Kyle's was, his is lower extremity.
00:27:17.599 --> 00:27:18.880
Like you said, army crawling.
00:27:18.960 --> 00:27:19.119
Yeah.
00:27:19.279 --> 00:27:21.119
Because lower extremities weren't working right.
00:27:22.400 --> 00:27:24.640
And so type one is the most common.
00:27:25.279 --> 00:27:28.960
I think like 60% of SMA cases are type one.
00:27:29.680 --> 00:27:34.000
Um they're diagnosed it some t most of the time they're born with symptoms.
00:27:34.400 --> 00:27:36.160
So they're the the flaccid baby.
00:27:37.039 --> 00:27:38.480
They don't move a lot when they're born.
00:27:38.799 --> 00:27:43.519
Um and then some six months or younger, they have problems.
00:27:44.000 --> 00:27:45.359
Like they're definitely not moving.
00:27:46.240 --> 00:27:50.160
Kyle was typical until around that time frame.
00:27:51.039 --> 00:28:01.440
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.
00:28:01.680 --> 00:28:02.480
You can be 50.
00:28:03.039 --> 00:28:06.880
I'm gonna be 50 and start showing symptoms, which is just general weakness.
00:28:07.119 --> 00:28:12.160
And that I can only imagine Yeah, at 50, you might assume it's so many other things.
00:28:12.480 --> 00:28:13.759
So many other things, right?
00:28:14.000 --> 00:28:31.680
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.
00:28:31.920 --> 00:28:32.240
Right.
00:28:32.480 --> 00:28:36.880
It's because SMA was the number one genetic killer of infants.
00:28:37.200 --> 00:28:37.680
Wow.
00:28:37.920 --> 00:28:38.640
Until now.
00:28:38.880 --> 00:28:39.680
Until now.
00:28:39.920 --> 00:28:40.799
And that's the thing.
00:28:40.960 --> 00:28:42.799
There's been a huge change.
00:28:43.039 --> 00:28:51.920
Uh and so previously, no one was really looking into it at all, SMA at all, unless there were symptoms.
00:28:52.240 --> 00:28:53.519
That changed recently.
00:28:53.680 --> 00:28:54.960
Tell us about that.
00:28:55.519 --> 00:28:58.480
So, newborn screening, it's run by state.
00:28:58.880 --> 00:29:00.799
Every state has a different panel.
00:29:01.119 --> 00:29:02.960
Shouldn't be that way, but it is.
00:29:03.279 --> 00:29:08.960
And when Kyle was born, I think only 18 states were testing for SMA, and Arizona was not one of them.
00:29:09.200 --> 00:29:09.599
Boo.
00:29:10.000 --> 00:29:13.440
So in 2023, it would become part of Arizona's panel.
00:29:13.680 --> 00:29:18.640
And by 2024, all 50 states were testing for SMA.
00:29:18.799 --> 00:29:19.440
That's great.
00:29:19.680 --> 00:29:21.839
So that was accomplished.
00:29:22.000 --> 00:29:24.720
Um and it's the quick, you said it was the heel prick test, right?
00:29:25.039 --> 00:29:27.759
It's just all part of everything else that they test for with that heel stick.
00:29:28.000 --> 00:29:28.240
Yeah.
00:29:28.400 --> 00:29:32.400
So that heel stick is really important for future parents.
00:29:32.559 --> 00:29:41.039
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.
00:29:41.359 --> 00:29:41.599
Right.
00:29:41.759 --> 00:29:54.640
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.
00:29:54.880 --> 00:30:03.839
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.
00:30:04.000 --> 00:30:07.279
If you go to the hospital after a home birth, they'll do the panel.
00:30:07.440 --> 00:30:07.759
Okay.
00:30:08.079 --> 00:30:18.160
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.
00:30:18.400 --> 00:30:18.559
Right.
00:30:18.799 --> 00:30:24.799
Which could be why only 18 states had screening to begin with, because there were no treatments until 2016.
00:30:25.039 --> 00:30:25.359
Right.
00:30:25.680 --> 00:30:30.880
It was a progressive terminal condition, which is why it was the number one infant killer.
00:30:31.839 --> 00:30:34.319
Now there's treatments and something can be done about it.
00:30:34.400 --> 00:30:44.559
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.
00:30:44.640 --> 00:30:50.160
So it can't be their only treatment, but it's used as a bridge until they can get gene therapy through insurance.
00:30:50.400 --> 00:30:50.640
Right.
00:30:50.720 --> 00:30:54.880
So there's treatment, which is medical as far as prescription in nature.
00:30:55.200 --> 00:30:55.359
Yep.
00:30:55.519 --> 00:30:56.319
And they're genetics.
00:30:56.480 --> 00:30:57.039
They're genetic.
00:30:57.440 --> 00:31:01.920
And there's genetic treatments, which are seen more as a cure.
00:31:02.559 --> 00:31:03.519
Um, not yet.
00:31:03.759 --> 00:31:04.319
Not yet.
00:31:04.480 --> 00:31:04.720
Okay.
00:31:05.200 --> 00:31:09.839
Because if you look at the definition of cure, cure would be eradicating.
00:31:10.079 --> 00:31:10.319
Okay.
00:31:10.799 --> 00:31:11.440
SMA.
00:31:11.519 --> 00:31:14.319
And you can't eradicate unless you modify the genome.
00:31:14.400 --> 00:31:17.599
So anyone with SMA or carrier can still pass it on.
00:31:17.759 --> 00:31:18.000
Okay.
00:31:18.160 --> 00:31:20.319
If we can eliminate that, then it's a cure.
00:31:20.880 --> 00:31:29.279
But the next best thing to a cure is getting gene therapy, which delivers the gene you're missing, stops the progression of symptoms.
00:31:29.519 --> 00:31:31.359
And so newborn screening is important.
00:31:31.440 --> 00:31:36.319
And then within three weeks, you have that bridge until you can get gene therapy.
00:31:36.480 --> 00:31:38.400
You get it asymptomatically.
00:31:38.640 --> 00:31:40.880
You never develop symptoms that we know of.
00:31:41.039 --> 00:31:41.680
That's amazing.
00:31:41.920 --> 00:31:44.160
Because we only have maybe 12 years of data.
00:31:44.400 --> 00:31:44.799
Right.
00:31:45.039 --> 00:31:46.240
But it's looking really good.
00:31:46.480 --> 00:31:47.359
But it looks really good.
00:31:47.519 --> 00:31:47.680
Yeah.
00:31:48.000 --> 00:31:49.119
Stay asymptomatic.
00:31:49.440 --> 00:31:52.880
I mean, for 12 years, that's 12 years of a that's a lot.
00:31:53.119 --> 00:31:57.200
That's the next best thing to a cure because you have stopped symptoms.
00:31:58.559 --> 00:32:01.920
You're you're so involved in the community, you actually know how the gene therapy works.
00:32:02.000 --> 00:32:05.519
And I found it really fascinating when you told me they use a virus.
00:32:06.079 --> 00:32:08.319
So how does gene therapy work?
00:32:08.640 --> 00:32:20.799
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.
00:32:21.039 --> 00:32:24.319
And so it's floats around in the body.
00:32:24.880 --> 00:32:27.599
It never goes inside a cell.
00:32:28.160 --> 00:32:34.559
And that's why it's theorized to be permanent because it there's no cell regeneration.
00:32:34.799 --> 00:32:35.119
Right.
00:32:35.359 --> 00:32:38.480
It's not being cleared through cell autopsis.
00:32:39.039 --> 00:32:40.559
You know, it just hangs out.
00:32:40.799 --> 00:32:44.640
Yeah, because all our cells die and are re re not reborn.
00:32:44.720 --> 00:32:44.960
Sorry.
00:32:45.279 --> 00:32:49.279
They're new cells are made and older cells die.
00:32:49.440 --> 00:32:52.240
And if it went into the cell, then when the cell died, it would go away.
00:32:52.400 --> 00:32:53.279
But these don't do that.
00:32:53.519 --> 00:32:54.079
These don't do it.
00:32:54.240 --> 00:33:01.920
It floats around and produces the protein, and then the motor neurons take that protein and function.
00:33:02.000 --> 00:33:03.279
It's the protein as the food.
00:33:03.519 --> 00:33:04.400
That's fascinating.
00:33:04.640 --> 00:33:08.240
And so this viral vector is the AAV9.
00:33:08.960 --> 00:33:14.160
If you remember that term, that's what I used as part of the testing for diagnosis.
00:33:14.480 --> 00:33:16.079
They test for the antibodies.
00:33:16.319 --> 00:33:36.880
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.
00:33:37.200 --> 00:33:37.519
Wow.
00:33:37.680 --> 00:33:42.240
And so gene therapy, the way they developed it, it's intravenous, it's an infusion.
00:33:43.519 --> 00:33:49.279
They chain take out the genetic code for the virus and put in the protein gene.
00:33:49.519 --> 00:33:49.839
Yep.
00:33:50.079 --> 00:33:56.720
And then they just float around and infect the body with the gene for the protein.
00:33:57.039 --> 00:33:58.000
Wow, that's amazing.
00:33:58.240 --> 00:34:00.079
So if you have antibodies, you're gonna attack it.
00:34:00.319 --> 00:34:01.759
And so the therapy won't work.
00:34:02.240 --> 00:34:05.440
And is there a way to get rid of the antibodies if you have them?
00:34:05.759 --> 00:34:12.239
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.
00:34:12.480 --> 00:34:22.079
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.
00:34:22.400 --> 00:34:24.320
So you just have antibodies and then they wane.
00:34:24.960 --> 00:34:27.519
And so they wait, just takes time for it to wane.
00:34:27.599 --> 00:34:30.000
There isn't anything they can give them to do it.
00:34:30.079 --> 00:34:32.880
And so then that just prolongs treatment.
00:34:33.119 --> 00:34:33.440
Right.
00:34:33.679 --> 00:34:40.639
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.
00:34:40.719 --> 00:34:42.480
Uh, but it shouldn't take too long.
00:34:42.719 --> 00:34:55.679
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?
00:34:56.719 --> 00:35:00.480
So it's critical that you have uh no antibody to that.
00:35:00.880 --> 00:35:01.280
Right.
00:35:01.519 --> 00:35:04.559
You don't want to just kill off the goodness you've just stuck in there.
00:35:04.800 --> 00:35:17.280
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.
00:35:17.519 --> 00:35:18.079
Wow.
00:35:18.480 --> 00:35:19.760
That's amazing.
00:35:20.559 --> 00:35:21.440
Holy cow.
00:35:21.599 --> 00:35:22.719
So so much there.
00:35:22.960 --> 00:35:30.639
Um, you guys started seeing some changes in Kyle pretty much right away, and Kyle's continuing to grow and develop.
00:35:31.039 --> 00:35:34.400
How has having SMA for Kyle?
00:35:34.480 --> 00:35:35.760
How has it impacted Kyle?
00:35:35.840 --> 00:35:40.880
We'll talk about you and your husband also, but how has having SMA impacted him?
00:35:41.440 --> 00:35:47.280
Um, I would say the the biggest impact is his interaction with his peers.
00:35:48.079 --> 00:35:50.079
He can't keep up with them.
00:35:50.880 --> 00:35:54.639
And so his yearning is to run and jump.
00:35:54.880 --> 00:35:56.320
Yeah, like a kid.
00:35:56.559 --> 00:36:04.400
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.
00:36:04.880 --> 00:36:17.119
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.
00:36:17.360 --> 00:36:21.199
So that's what has impacted him the most.
00:36:21.360 --> 00:36:28.159
Otherwise, kids are very forgiving and helpful.
00:36:28.719 --> 00:36:32.400
And so for the most part, his peers help him.
00:36:32.480 --> 00:36:40.719
They just know to give him a hand, to get up, or carry something, fold the door for him, or they just accommodate themselves.
00:36:40.800 --> 00:36:42.639
Like they just don't even have to be told.
00:36:42.960 --> 00:36:43.920
That's amazing.
00:36:44.239 --> 00:36:45.280
And what about at school?
00:36:45.360 --> 00:36:47.119
How has it impacted him at school?
00:36:47.760 --> 00:36:48.639
It really hasn't.
00:36:48.800 --> 00:36:51.840
Carlson is amazing, it's an amazing school.
00:36:52.000 --> 00:36:53.760
They welcomed him.
00:36:53.920 --> 00:36:58.400
We do have a 504 plan, but it's a formality.
00:36:58.800 --> 00:37:01.039
It's just to make sure everyone's on the same page.
00:37:01.199 --> 00:37:03.440
But the PE teacher there is amazing.
00:37:03.920 --> 00:37:06.480
And the district has amazing support.
00:37:06.639 --> 00:37:18.079
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.
00:37:18.239 --> 00:37:20.079
He he's just a kid.
00:37:20.239 --> 00:37:20.960
That's great.
00:37:21.199 --> 00:37:26.320
So Chandler Unified School District here in Arizona and Carlson Elementary.
00:37:26.480 --> 00:37:32.400
So shout out to them for doing such an amazing job because the public school system doesn't always get the kudos.
00:37:32.559 --> 00:37:32.800
Right.
00:37:32.960 --> 00:37:36.400
And so this is one of those areas that they're really a shining star in.
00:37:36.639 --> 00:37:38.559
So we want to say thank you, Chandler.
00:37:40.239 --> 00:37:41.039
Well, that's great.
00:37:41.199 --> 00:37:45.679
So I'm glad to hear as far as school goes and everything else, yes, there's social issues.
00:37:45.840 --> 00:37:47.840
Um, but he's learning to overcome them.
00:37:47.920 --> 00:37:51.760
And as kids mature, they're gonna learn to overcome those.
00:37:52.320 --> 00:37:54.079
You know, children are selfish.
00:37:54.239 --> 00:37:56.639
They're naturally selfish individuals, right?
00:37:56.719 --> 00:38:00.880
And so half of the time they probably don't even think about the fact that we just ran off without Kyle.
00:38:01.039 --> 00:38:04.320
And then they look back like, oh, right, we had Kyle here, right?
00:38:04.400 --> 00:38:04.559
Right.
00:38:04.800 --> 00:38:09.599
So, you know, that'll probably get a little better as time goes on.
00:38:09.679 --> 00:38:15.280
And and, you know, hopefully he doesn't end up having a situation with someone who's not so kind.
00:38:15.360 --> 00:38:18.000
But we know that those happen for families too.
00:38:18.320 --> 00:38:20.880
Uh, so impacting you and your husband.
00:38:21.119 --> 00:38:27.280
I mean, it's been a long journey and it's really still the beginning for for you guys and your family.
00:38:27.440 --> 00:38:32.079
How has having SMA for your son impacted you and your husband?
00:38:32.800 --> 00:38:34.719
Mainly all of the appointments.
00:38:34.960 --> 00:38:35.360
Right.
00:38:35.679 --> 00:38:43.280
The time away from work, the time of having to have him somewhere, you know, and just hyper focusing on that.
00:38:43.440 --> 00:38:52.159
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.
00:38:52.880 --> 00:38:54.480
Gene therapy is one and done.
00:38:55.039 --> 00:38:55.360
Wow.
00:38:56.320 --> 00:38:56.960
One and done.
00:38:57.280 --> 00:39:05.280
The very first treatment that was approved is a epidural like really administration.
00:39:07.440 --> 00:39:08.719
Who wants to do that to a baby?
00:39:08.880 --> 00:39:09.039
No.
00:39:09.360 --> 00:39:10.000
Or a child.
00:39:10.239 --> 00:39:26.800
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.
00:39:27.119 --> 00:39:29.360
But to me, that would be my last resort.
00:39:29.519 --> 00:39:31.360
And it's quarterly, I think.
00:39:31.840 --> 00:39:35.519
So you would think that I would want that, but no.
00:39:35.679 --> 00:39:40.079
I'll take the the treatment he's on is daily, but it's an oral solution.
00:39:40.400 --> 00:39:42.079
So it's not a shot, it's an oral solution.
00:39:42.320 --> 00:39:43.119
An oral solution.
00:39:43.199 --> 00:39:50.239
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.
00:39:50.480 --> 00:39:50.880
Oh, okay.
00:39:51.280 --> 00:39:51.920
Swallow a pill.
00:39:52.159 --> 00:39:54.000
It's a little easier as we go along.
00:39:54.159 --> 00:39:54.639
Yeah.
00:39:54.880 --> 00:40:02.719
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.
00:40:02.800 --> 00:40:04.159
I hope it's not forever.
00:40:04.400 --> 00:40:04.800
Right.
00:40:05.039 --> 00:40:15.199
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.
00:40:15.599 --> 00:40:16.079
Right.
00:40:16.320 --> 00:40:17.039
Every day.
00:40:17.280 --> 00:40:23.679
And in addition to that, the idea that Kyle just missed the gene therapy window.
00:40:24.639 --> 00:40:29.039
That he was just too old or too young, or what was it?
00:40:29.199 --> 00:40:31.679
Like he wasn't able to get one of the therapies.
00:40:32.159 --> 00:40:35.119
Um, no, there's another another SMA child in town.
00:40:35.599 --> 00:40:38.559
And he was two weeks too old to get gene therapy.
00:40:38.800 --> 00:40:39.440
Two weeks.
00:40:39.519 --> 00:40:41.199
Oh my god from diagnosis.
00:40:41.280 --> 00:40:41.519
Yeah.
00:40:42.159 --> 00:40:42.880
Two weeks.
00:40:43.039 --> 00:40:43.440
Wow.
00:40:43.679 --> 00:40:45.599
And it matters because of that virus.
00:40:47.440 --> 00:40:49.280
It's volume based.
00:40:49.440 --> 00:40:56.159
And so they know based on weight, how much, how many gene particles the body needs.
00:40:56.880 --> 00:40:59.280
And then that's viral particles that it needs.
00:41:00.079 --> 00:41:02.559
So that's why that matters so much, that time frame.
00:41:02.880 --> 00:41:06.079
So two and two and younger get gene therapy, and that's it.
00:41:06.559 --> 00:41:06.880
That's it.
00:41:07.039 --> 00:41:10.559
Early diagnosis is why early diagnose matters as well.
00:41:11.119 --> 00:41:21.840
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.
00:41:22.719 --> 00:41:23.199
Oh yeah.
00:41:23.440 --> 00:41:30.559
So if you weigh more older it you don't want to compromise your organs.
00:41:31.519 --> 00:41:33.599
So that's why they have that criteria.
00:41:34.159 --> 00:41:34.639
Interesting.
00:41:34.800 --> 00:41:41.280
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.
00:41:42.079 --> 00:41:47.599
Yes, actually in October they approved gene therapy for two years and older.
00:41:48.000 --> 00:41:48.159
Okay.
00:41:48.480 --> 00:41:51.840
And it's a lumbar injection.
00:41:52.239 --> 00:41:54.079
It's an epidural, but it's one time.
00:41:54.320 --> 00:41:55.119
But it's one time.
00:41:55.920 --> 00:41:56.719
One and done.
00:41:57.280 --> 00:42:01.440
But it went through all the trials and it got FDA approved, I believe, last October.
00:42:01.519 --> 00:42:02.800
So that's amazing.
00:42:03.519 --> 00:42:06.079
Yay! So much hope for so many people.
00:42:06.320 --> 00:42:06.639
Yes.
00:42:07.039 --> 00:42:08.559
You know, it stops the progression.
00:42:08.800 --> 00:42:10.400
And like I said, every day is damage.
00:42:11.280 --> 00:42:14.559
So the older you are, the more damage you've had.
00:42:14.719 --> 00:42:15.360
Right.
00:42:15.679 --> 00:42:19.519
So you're probably not going, they're not going to see the same improvements.
00:42:20.719 --> 00:42:24.320
But hey, they're getting weaker every day too.
00:42:24.480 --> 00:42:24.800
Right.
00:42:24.960 --> 00:42:27.119
And so this stops that.
00:42:27.440 --> 00:42:27.920
Stops that.
00:42:28.239 --> 00:42:30.159
Wherever it is, it stops it in its traps.
00:42:30.719 --> 00:42:39.679
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?
00:42:39.840 --> 00:42:42.960
Because it's a dad and he's got a boy.
00:42:43.280 --> 00:42:44.800
Do I roughhouse with Kyle?
00:42:44.880 --> 00:42:46.559
Because it's just a natural dad instinct.
00:42:46.639 --> 00:42:52.639
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.
00:42:52.960 --> 00:42:55.440
But that's how they get ready for bed, right?
00:42:56.559 --> 00:42:58.239
He always does it right before bed.
00:42:58.480 --> 00:42:58.880
Always.
00:42:58.960 --> 00:43:00.239
Every slack time.
00:43:00.400 --> 00:43:02.159
Don't get them all riled up.
00:43:02.800 --> 00:43:03.280
Amen.
00:43:04.079 --> 00:43:04.559
Amen.
00:43:04.960 --> 00:43:05.760
Oh my gosh.
00:43:05.840 --> 00:43:10.320
I think it's a common mother versus father-son dynamic.
00:43:10.639 --> 00:43:11.360
Seriously.
00:43:11.599 --> 00:43:13.519
So that was a discussion you guys actually had.
00:43:13.599 --> 00:43:15.360
And you said your doctor had an opinion on it.
00:43:15.599 --> 00:43:16.239
Yeah, yeah.
00:43:16.320 --> 00:43:20.480
So I I brought it up to probably the neurologist.
00:43:21.199 --> 00:43:24.960
Um, you know, he's weak and so he can't resist forces.
00:43:25.119 --> 00:43:26.719
That's his biggest thing.
00:43:26.880 --> 00:43:29.360
Kids can bump into him and he's gonna fall over.
00:43:29.440 --> 00:43:31.840
He can't like step resist.
00:43:31.920 --> 00:43:37.440
He can't like change his force to, you know, can't talk.
00:43:37.599 --> 00:43:37.760
Yeah.
00:43:37.920 --> 00:43:38.480
So it's fine.
00:43:38.639 --> 00:43:39.519
I get what you're saying.
00:43:39.599 --> 00:43:40.159
It can't resist.
00:43:41.119 --> 00:43:44.719
And have opposing forces, he's going to go in the direction of the force.
00:43:44.800 --> 00:43:59.199
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.
00:43:59.280 --> 00:44:08.239
And so His doctor was basically, no, I don't want to discourage that because that will it's teaching him to fight back.
00:44:08.320 --> 00:44:10.159
And it's almost like a form of exercise.
00:44:10.800 --> 00:44:12.159
It's a little extra PT.
00:44:14.000 --> 00:44:14.880
To push back.
00:44:14.960 --> 00:44:18.320
He his body will want to oppose those forces.
00:44:18.400 --> 00:44:21.039
And so it's another form of PT.
00:44:21.280 --> 00:44:22.239
That's awesome.
00:44:22.400 --> 00:44:22.960
That's great.
00:44:23.039 --> 00:44:24.960
So dad was like given the green light.
00:44:25.119 --> 00:44:25.440
Yeah.
00:44:25.760 --> 00:44:29.679
Go and have all the father-son wrestling fun that you can have, right?
00:44:30.480 --> 00:44:31.039
All right.
00:44:31.280 --> 00:44:37.440
So you are one of the ways it changed your life is you have become very active in Cure SMA.
00:44:37.519 --> 00:44:47.119
And it that's an organization that specifically focuses on trying to help families as well as communication with the medical community.
00:44:47.280 --> 00:44:50.719
So can you tell us a little bit about what is Cure SMA?
00:44:51.039 --> 00:44:55.119
Cure SMA is an organization for the community.
00:44:55.280 --> 00:44:57.199
It started in 1984.
00:44:58.000 --> 00:44:58.800
So SMA.
00:44:59.039 --> 00:44:59.679
It's not that old.
00:44:59.840 --> 00:45:00.000
No.
00:45:00.239 --> 00:45:06.320
SMA was first discovered in the late 1800s and didn't know it had a genetic component until late 90s.
00:45:06.480 --> 00:45:06.800
Okay.
00:45:07.280 --> 00:45:12.239
So the medical community knew of SMA, but couldn't do anything.
00:45:12.400 --> 00:45:16.719
So this organization started in 84 by the families.
00:45:16.880 --> 00:45:17.280
Mm-hmm.
00:45:18.239 --> 00:45:21.840
Um, wanting to bring everyone together and advocate.
00:45:22.079 --> 00:45:22.639
Yeah.
00:45:23.280 --> 00:45:33.840
So they their number one thing is providing research grants to scientists that will do focus their research on finding a cure for SMA.
00:45:34.639 --> 00:45:38.880
So that's their biggest um source for funding.
00:45:39.119 --> 00:45:41.039
But they also support the families.
00:45:41.280 --> 00:45:43.280
Um they have a lot of programs.
00:45:43.360 --> 00:45:47.519
They have a travel SMA, traveling with SMA kit.
00:45:48.719 --> 00:45:52.639
They have a teenager kit, they have all kinds of things.
00:45:52.719 --> 00:45:59.599
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.
00:45:59.920 --> 00:46:00.559
Kind of neat.
00:46:00.719 --> 00:46:07.440
But the best thing is newly diagnosed program that they have where diagnosis day.
00:46:07.519 --> 00:46:08.960
You get this diagnosis.
00:46:09.440 --> 00:46:10.880
And you had asked me this.
00:46:11.360 --> 00:46:14.079
In the office when we were diagnosed, MDA was there.
00:46:14.480 --> 00:46:19.519
Oh they signed us up to be on the MDA registry, all that.
00:46:20.079 --> 00:46:27.360
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.
00:46:27.440 --> 00:46:29.760
I'm pretty sure they reached out to me.
00:46:30.079 --> 00:46:30.400
Okay.
00:46:30.719 --> 00:46:35.280
Um but newly diagnosed, they send a care package.
00:46:35.679 --> 00:46:37.760
And I'm not talking a little care package.
00:46:38.000 --> 00:46:42.559
I'm talking like your Amazon, a refrigerator box care package.
00:46:43.360 --> 00:46:53.920
And it had a they send you age-appropriate toys, art supplies, um, living supplies, which they now need to change their focus.
00:46:54.000 --> 00:47:10.639
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.
00:47:10.880 --> 00:47:16.639
So some of it, even at our point, was inappropriate or I didn't need, and so I found people to give them to.
00:47:17.760 --> 00:47:27.920
But just the fact of all of the adaptive toys and everything to make the babies and families forget about their diagnosis.
00:47:28.159 --> 00:47:28.320
Yeah.
00:47:28.480 --> 00:47:30.639
And give them all kinds of fun stuff.
00:47:30.800 --> 00:47:31.360
That's awesome.
00:47:31.599 --> 00:47:37.280
So it was like this big Christmas present of stuff, you know, which is amazing.
00:47:37.599 --> 00:47:41.199
And then they also sent us a little red wet, little red rider wagon.
00:47:41.440 --> 00:47:42.719
Oh, I'm sure that's necessary.
00:47:43.119 --> 00:47:43.679
Use that a lot.
00:47:43.840 --> 00:47:44.079
Yeah.
00:47:44.239 --> 00:47:45.280
Easy to get around.
00:47:46.159 --> 00:47:48.159
Because they're not going to walk and you can't carry them.
00:47:48.320 --> 00:47:48.559
Yeah.
00:47:48.880 --> 00:47:50.159
Get to a point where you can't carry them.
00:47:50.239 --> 00:47:50.480
Mm-hmm.
00:47:50.639 --> 00:47:53.360
And so wagons, and so yeah, they sent us a wagon.
00:47:53.679 --> 00:47:57.199
They also provide grants for families to attend their annual meeting.
00:47:57.360 --> 00:47:57.840
Oh, neat.
00:47:58.079 --> 00:47:59.920
So that families can be connected.
00:48:00.960 --> 00:48:03.519
Um, so they help pay for that because it's not cheap.
00:48:03.679 --> 00:48:03.840
Yeah.
00:48:04.000 --> 00:48:07.679
So they have travel grants and they have they waive the registration.
00:48:08.000 --> 00:48:10.400
At the conference, the kids don't go to the meetings.
00:48:10.559 --> 00:48:12.480
They have a daycare.
00:48:12.719 --> 00:48:12.800
Oh.
00:48:12.960 --> 00:48:17.360
So parents can like express drop the kids off.
00:48:17.440 --> 00:48:17.760
Yep.
00:48:18.000 --> 00:48:20.719
They have all kinds of activities and a million volunteers.
00:48:20.960 --> 00:48:21.599
That's amazing.
00:48:21.760 --> 00:48:25.679
And then the parents are off learning at the meeting.
00:48:25.840 --> 00:48:27.760
So they provide all of that.
00:48:28.480 --> 00:48:29.440
That is amazing.
00:48:29.519 --> 00:48:35.199
So they're really there for the families, as well as that piece of the medical community.
00:48:35.599 --> 00:48:38.559
They're connecting with doctors, they're looking for research funding.
00:48:38.639 --> 00:48:44.000
They're looking for researchers, people who want to, you know, actually do this research and everything else.
00:48:44.159 --> 00:48:47.280
So it sounds like they really have it really well put together.
00:48:47.599 --> 00:48:53.840
You joined the organization here in Arizona, and you really help run some things here for that fundraising.
00:48:54.079 --> 00:48:58.320
But you've also, didn't you attend the national conference recently?
00:48:58.559 --> 00:49:00.880
I thought I saw you attend something recently.
00:49:01.039 --> 00:49:01.360
Yes.
00:49:02.559 --> 00:49:05.119
So yes, I'm on the chapter board for Arizona.
00:49:05.280 --> 00:49:06.719
Most states have a chapter.
00:49:06.880 --> 00:49:09.920
There are some states, some chapters that cover multiple states.
00:49:10.079 --> 00:49:10.159
Okay.
00:49:10.480 --> 00:49:12.239
Just depending on the population.
00:49:12.639 --> 00:49:25.280
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.
00:49:27.280 --> 00:49:28.320
Continue with their efforts.
00:49:28.559 --> 00:49:28.639
Yeah.
00:49:28.880 --> 00:49:33.599
So one of the things that we do is leadership and advocacy.
00:49:33.760 --> 00:49:42.800
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.
00:49:44.239 --> 00:49:52.320
And they brought us to DC and uh educated us on what to say and what we were focusing on.
00:49:52.400 --> 00:50:02.719
It was two bills that had to do with uh SMA research and uh disability access to disability resources.
00:50:03.840 --> 00:50:06.639
Those were on the line at our current Congress.
00:50:07.199 --> 00:50:16.800
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.
00:50:17.119 --> 00:50:17.679
Oh neat.
00:50:17.920 --> 00:50:22.559
We weren't just QSMA representatives meeting with Congress.
00:50:23.199 --> 00:50:35.679
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.
00:50:35.920 --> 00:50:43.440
So I really appreciated um that organization of the advocacy.
00:50:43.679 --> 00:50:44.000
Right.
00:50:44.239 --> 00:50:46.480
It made it made so much more sense, right?
00:50:46.639 --> 00:50:53.360
Yeah, it made it personal, it brought it down to a real level, a human level, not an organization versus government level.
00:50:53.679 --> 00:50:54.159
Exactly.
00:50:54.320 --> 00:51:04.320
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.
00:51:05.119 --> 00:51:11.119
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.
00:51:11.440 --> 00:51:12.320
That's great.
00:51:12.559 --> 00:51:14.559
And so that was awesome.
00:51:14.639 --> 00:51:18.400
And one of the the research bill has been signed into law.
00:51:18.559 --> 00:51:19.119
Woohoo!
00:51:19.679 --> 00:51:20.639
So that one worked.
00:51:20.800 --> 00:51:23.440
The disability resource one is is still out there.
00:51:23.599 --> 00:51:24.079
It's still out there.
00:51:24.400 --> 00:51:24.880
Everything else.
00:51:25.119 --> 00:51:25.440
Yep.
00:51:25.519 --> 00:51:26.960
I I resource funding.
00:51:27.199 --> 00:51:30.000
I've heard a lot about that one still being talked about.
00:51:30.559 --> 00:51:32.719
So well, hopefully we continue.
00:51:32.800 --> 00:51:36.880
I mean, advocates like you and your family and the group that you're with.
00:51:37.039 --> 00:51:38.320
Yeah, we really need that.
00:51:38.400 --> 00:51:45.679
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.
00:51:45.840 --> 00:51:47.119
So I thank you for that.
00:51:47.280 --> 00:51:50.719
As a mom of a kid with disabilities, I thank you for that.
00:51:50.960 --> 00:51:53.199
Because that's I've I've never done that kind of work.
00:51:53.280 --> 00:51:57.440
And it it absolutely sounds like it's exhaustive and purposeful.
00:51:57.679 --> 00:51:58.000
Yeah.
00:51:58.239 --> 00:52:00.719
And so thank you for doing all of that.
00:52:01.280 --> 00:52:02.400
Uh, let's see.
00:52:02.719 --> 00:52:11.519
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.
00:52:11.760 --> 00:52:12.079
Gala.
00:52:12.400 --> 00:52:12.800
Gala.
00:52:12.960 --> 00:52:13.360
There we go.
00:52:13.440 --> 00:52:14.800
That's the word I couldn't find.
00:52:15.039 --> 00:52:22.159
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.
00:52:22.400 --> 00:52:27.360
And so you have this gala upcoming, and uh, tell us a little bit about what that's about.
00:52:27.679 --> 00:52:31.760
Yes, we have two annual fundraisers for Arizona.
00:52:31.920 --> 00:52:39.199
We try to do individual fundraising, but we have two uh, I guess, nationally sponsored events.
00:52:39.360 --> 00:52:46.639
We have a walk and roll, so it's kind of your normal annual walk or something kind of thing.
00:52:46.800 --> 00:52:49.119
And then we have our gala in April.
00:52:49.440 --> 00:52:54.559
And um, it has evolved through the years where it was just a gathering at well started.
00:52:54.880 --> 00:53:00.239
I think originally before I was involved, it was like a wine and art event.
00:53:00.480 --> 00:53:00.800
Okay.
00:53:01.199 --> 00:53:04.400
But then those connections go away after time.
00:53:04.960 --> 00:53:06.960
And then it was just a gathering at a bar.
00:53:07.599 --> 00:53:13.199
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.
00:53:13.360 --> 00:53:18.159
So it was pretty low-key and low funding, low fundraising.
00:53:18.320 --> 00:53:18.719
Right.
00:53:18.960 --> 00:53:26.639
So last year we took a leap of faith and said, let's shoot for the stars and see what we can do different.
00:53:27.679 --> 00:53:34.960
And without too we doubled the ticket cost, but just doing that, our cost didn't change as much.
00:53:35.039 --> 00:53:38.239
And we were able to raise$70,000.
00:53:38.719 --> 00:53:39.599
That's incredible.
00:53:39.840 --> 00:53:41.280
With just changing the venue.
00:53:41.440 --> 00:53:45.840
We went from a bar to a ballroom.
00:53:46.880 --> 00:53:47.440
Yep.
00:53:47.760 --> 00:53:51.599
And it was a very magical night, and people were very generous.
00:53:51.840 --> 00:53:54.400
And I've already seen a lot of the same people coming back.
00:53:54.639 --> 00:53:56.639
Yay! So it's a good sign.
00:53:56.800 --> 00:53:57.440
It was a good thing.
00:53:57.519 --> 00:54:04.159
Yeah, people enjoyed themselves, and so we are now tasked with raising$100,000 for one event.
00:54:04.480 --> 00:54:05.119
Incredible, yeah.
00:54:05.519 --> 00:54:09.440
From$2,200 to$100,000 in two years.
00:54:09.679 --> 00:54:11.599
It's incredible, is what we're tasked with.
00:54:11.760 --> 00:54:14.400
But we went from two to 70 in one year.
00:54:14.559 --> 00:54:18.719
So you can you've got an incredible team, it sounds like we do.
00:54:18.800 --> 00:54:32.079
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.
00:54:32.400 --> 00:54:35.599
There's there's a passion as a special needs parent, right?
00:54:35.760 --> 00:54:37.280
And I think it drives us.
00:54:37.519 --> 00:54:39.119
It definitely drives us.
00:54:39.280 --> 00:54:49.280
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 there.
00:54:49.440 --> 00:54:51.280
What is the Ryan House?
00:54:51.599 --> 00:55:03.280
Ryan House is a respite house for um anyone, any disabled family can send their kids to this house.
00:55:03.360 --> 00:55:04.960
It's in central Phoenix, I believe.
00:55:05.039 --> 00:55:09.119
I haven't been there yet, to for a vacation.
00:55:09.280 --> 00:55:21.360
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.
00:55:21.599 --> 00:55:22.480
Just be a parent.
00:55:22.719 --> 00:55:35.920
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.
00:55:36.239 --> 00:55:45.519
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.
00:55:45.840 --> 00:55:48.320
And it was started by an SMA family.
00:55:48.400 --> 00:55:55.840
Their SMA family son is no longer with us, and I think that was their driving force as well.
00:55:56.079 --> 00:56:00.000
They stay connected to us with our community and help us out as well.
00:56:00.239 --> 00:56:08.400
But their mission was to help the disability community by providing Ryan House and that their son Ryan.
00:56:08.639 --> 00:56:09.760
Yep, their son Ryan.
00:56:09.920 --> 00:56:22.000
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.
00:56:22.079 --> 00:56:25.280
And that was such a great way that they found to honor their son.
00:56:25.599 --> 00:56:26.880
That's amazing.
00:56:27.199 --> 00:56:29.199
All right, so enclosure.
00:56:29.519 --> 00:56:43.599
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.
00:56:44.320 --> 00:56:45.360
It's not easy.
00:56:45.599 --> 00:56:46.880
And it's not going to be.
00:56:47.760 --> 00:56:50.960
You have to, you're constantly advocating.
00:56:51.519 --> 00:56:55.519
So always have your boots to the ground because that's your life.
00:56:56.000 --> 00:56:57.440
Your life is now an advocate.
00:56:58.320 --> 00:57:01.679
And just you don't have anyone on your side.
00:57:02.480 --> 00:57:05.920
No one is looking out for you or your kids.
00:57:06.079 --> 00:57:07.119
You have to look out for them.
00:57:07.760 --> 00:57:08.000
Yeah.
00:57:08.480 --> 00:57:15.280
So you can trust your doctors, you can lean on them, but you are still on high alert.
00:57:15.599 --> 00:57:20.239
You have to advocate, you have to be aware of everything at any time.
00:57:20.800 --> 00:57:21.440
Yep.
00:57:21.760 --> 00:57:22.159
Yep.
00:57:22.239 --> 00:57:24.000
And it doesn't have to be lonely.
00:57:24.239 --> 00:57:25.280
No, we're out there.
00:57:25.679 --> 00:57:26.880
Find a community.
00:57:27.920 --> 00:57:31.119
Our neurologist says we are the SMA mafia.
00:57:31.920 --> 00:57:32.639
I love that.
00:57:32.880 --> 00:57:36.480
Because he swears we find each other before he does.
00:57:37.039 --> 00:57:38.079
That's amazing, though.
00:57:38.239 --> 00:57:40.880
As a HIPAA, he's not allowed to tell us about new families.
00:57:41.199 --> 00:57:42.320
Oh my gosh, that's true.
00:57:42.480 --> 00:57:42.880
Yeah.
00:57:43.199 --> 00:57:44.159
So we find them.
00:57:44.320 --> 00:57:47.599
Cure SMA reaches out to them and then tells them that they have a chapter.
00:57:48.159 --> 00:57:56.239
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.
00:57:56.480 --> 00:57:56.800
There are.
00:57:56.960 --> 00:58:05.920
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.
00:58:06.079 --> 00:58:07.039
And same thing.
00:58:07.199 --> 00:58:10.320
We know that there are families out there that just don't want to be involved.
00:58:10.480 --> 00:58:12.320
And that's that's their personal choice.
00:58:12.400 --> 00:58:13.199
And that's great.
00:58:13.280 --> 00:58:16.000
Uh it's just if you need support.
00:58:16.239 --> 00:58:16.960
It's out there.
00:58:17.119 --> 00:58:17.760
It's out there.
00:58:17.920 --> 00:58:18.480
It's out there.
00:58:18.639 --> 00:58:19.199
Go find it.
00:58:19.280 --> 00:58:30.880
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.
00:58:31.440 --> 00:58:32.639
SMA is moms.
00:58:32.719 --> 00:58:33.360
They'll help you.
00:58:33.519 --> 00:58:33.679
Yep.
00:58:33.840 --> 00:58:38.639
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.
00:58:38.719 --> 00:58:42.559
We want to help out everyone out there to help find those resources.
00:58:42.719 --> 00:58:48.079
And like you said, trust your gut because you are the advocate for your child.
00:58:48.239 --> 00:58:52.000
You are it, and it's it's not easy, but man, it's rewarding.
00:58:52.400 --> 00:58:57.440
It is rewarding in the end when you see those changes, when you see those miracles take place in our kids.
00:58:57.840 --> 00:58:59.360
Or adult children.
00:59:00.960 --> 00:59:06.079
And to bring them together because children want to find something like them.
00:59:06.320 --> 00:59:06.880
Yes.
00:59:07.119 --> 00:59:07.679
Don't we?
00:59:07.920 --> 00:59:15.360
So we bring Kyle together with his fellow SMA kids because there are a few in town his age and they're BFFs.
00:59:15.519 --> 00:59:20.159
So it's yeah, it's important to find your community that you do belong to.
00:59:20.719 --> 00:59:26.320
I mean, you don't have to relate to them for everything, but you do have that one thing in common.
00:59:26.400 --> 00:59:29.920
It's the community you never wanted to be a part of.
00:59:30.079 --> 00:59:30.239
Yeah.
00:59:30.480 --> 00:59:31.440
Never thought you would be.
00:59:31.599 --> 00:59:36.000
But the blessing you never knew was coming and maybe didn't see as a blessing at first.
00:59:37.440 --> 00:59:38.719
But yep, that's wonderful.
00:59:38.880 --> 00:59:40.880
Well, Melanie, thanks so much for joining me today.
00:59:41.119 --> 00:59:41.360
Thank you.
00:59:41.840 --> 00:59:45.199
And I am really excited to see Kyle again soon.
00:59:46.079 --> 00:59:47.920
So we'll definitely be getting together.
00:59:48.079 --> 00:59:51.360
Thank you everyone for joining us today on the special parent podcast.
00:59:51.519 --> 00:59:56.719
There is a lot of information, and all of the connections for Cure SMA will be on my website.
00:59:56.880 --> 00:59:58.480
And if you need anything, reach out.
00:59:58.639 --> 01:00:00.159
There's always a community here for you.
01:00:00.239 --> 01:00:01.920
And remember, you've got this.