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- [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.
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