Spinal Muscular Atrophy and a Gift of Grace

Spinal Muscular Atrophy and a Gift of Grace


(light music) – [Moriah] She was about 13 months and she wasn’t pulling up to standing and she wasn’t walking yet. And she could stand. I’d always have to put
her in a standing position and she would stand and
play for a long time. By 15 months, could tell her crawling was more laborsome than it had been. I would put her to stand
up and she just would cry. She just didn’t wanna do it anymore ’cause it was just too hard for her. When we met with the neurologist, he said he wanted her tested for SMA and from there it was like three weeks. We got her diagnosis. March 19th. – [Dr. Parsons] Spinal Muscular
Atrophy is a genetic disorder. There’s progressive weakness and typically children will
die of respiratory failure. The thing about SMA is that
this doesn’t affect thinking or the brain, so our patients
are bright, normal kids. They just are caught in these bodies that have progressive weakness and they really can’t move. Nusinersen is a new drug
and we were very fortunate to be involved in the initial trials. Lucy was one of our patients who was involved in a clinical trial. She was a type 2, or a sitter,
so already had contractures. – [Byron] We didn’t know
she was getting, you know, the sham or the drug.
– Yeah, it was a double-blind sham. – But man, I think it
was just within weeks, all of a sudden, we were like, we haven’t seen that before. Her left arm, she could get about here. And then I remember one day
all of a sudden she went here. And I thought, oh my goodness, you know?
– Yeah. – ‘Cause she hadn’t been able to do that. And so it was at that
point we started going, okay, I think we’re getting the drug here. – [Moriah] And now just
comparing how strong she is now to then, she’s come a long, long way. – [Byron] With Lincoln, we
knew there was a 25% chance. You can test early or you
could just wait ’til he’s here. And we just kinda decided, you know, we’ll wait ’til he’s here. – [Moriah] In the middle
of being pregnant with him, Spinraza became FDA-approved. – Because we had worked
on getting Nusinersen commercially available at Children’s, Lincoln was able to start Nusinersen at less than a month of age, and the outcome for him,
as you can see, is amazing. (chuckles) – [Byron] Lincoln’s hell on wheels, man. Can I say that on camera? I mean, he’s, he’s headstrong and honestly, man, I forget he has SMA. The other day, his sister’s wheelchair was in the middle of the living room and he decided he was
just gonna get up on top of that wheelchair. – [Moriah] At first I was like,
oh my gosh, that’s so cute. And then it just hit me
that he doesn’t need it. And he’s 23 months. Lucy got her first chair at 23 months. – [Dr. Parsons] Lincoln should look
exactly like his sister, Lucy. There’s about an 85%
concordance rate for patients who have
Spinal Muscular Atrophy, so we would have expected
Lincoln to look just like Lucy if he were not treated. But treating him early has really
had such beneficial outcomes that I wouldn’t be able to tell he had Spinal Muscular Atrophy if I didn’t know his genetics. – [Byron] Children’s Colorado.
I mean, I can’t talk enough about what they’ve done for our family. There’s joy in that my boy’s okay. But there’s joy, too, that Lucy’s okay. She’s getting this treatment that is helping her
get stronger, you know. It has extended her life and given her so much
more quality of life. I always talk about grace and I always try to tell
my kids when we come here, I always point at that hospital
and I’ll say, what is that? And they know now to say it’s grace. And it is. The men and women that work here, the nurses, the doctors, the staff, just so many good qualities
and so much wisdom. It just really is gracious, you know? I mean, I think that’s how I
feel every time I come here is just what a gift of grace
this place has been to us. (light music)

2 Replies to “Spinal Muscular Atrophy and a Gift of Grace”

  1. I am also suffering from spinal muscular atrophy too at age 14 but now I am 24 yr ..I am doing exercises to grow up muscles to make muscles strong and it's working for me I am able to walk freely without wheel chair

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