(soft music) (crowd chattering)
- [Woman] Three go.
- [Man] Come on Sophia.
- Let's go Sophia.
I had the most amazing pregnancy.
- [Walter] I couldn't be more proud when we got pregnant
and it was just like you're living in a utopia.
- [Jennifer] Sofia came in the summer of 2006.
- [Walter] I think we both had that parent intuition
that something's not right.
- She would just cry and cry,
and I'm like what's wrong little baby?
At Sofia's 12th month appointment,
we had been voicing our concerns
with our pediatrician for some time now,
and she went ahead and referred us out to a neurologist
and a team of child development specialists,
and they told us, hey, we want to do a CAT Scan
and we're going to do a MRI,
and I started to really get that sinking feeling inside.
The neurologist, he called us back a few days
after the CAT Scan and told us that,
there was some slowing in the brain.
Go Sophia, go.
Good job.
A bevy of exams, testing, and evaluations soon followed.
We had so many specialists we were seeing at the time
geneticists, neurologists, developmental specialists.
All the testing that we did came back, inconclusive.
Who do we have, oh, it's Dora.
Feed Dora, num, num, num, num.
- We had done sequencing, they call us in,
we sit down with the geneticist,
a genetic counselor, and they're like well,
there's nothing here that tells us today what's wrong.
And that was kind of like somebody hit you in the gut.
It's frustrating to go doctor after doctor,
and nobody can give you a definitive answer.
We took a time out for a couple of years,
we just stopped going to see doctors.
At the end of the day it just
became this sense that,
I'm powerless, I can't do anything.
- Not knowing what, Sofia was going through medically
was very isolating, you know, family
and friends kind of started to disappear quietly.
Say, walk please.
- [Sophia] Walk please.
- Good job,
good job.
In July of 2016 we decided to go back
and start doing testing.
I was really looking to figure out once
and for all what's going on with our daughter.
- [Woman] Ah, good job.
- So I reached out to Illumina where we had done
the initial sequencing, and a lady contacted me back
and she told me, there's good news,
we have a program called iHope.
Finally there was like some light at the end of the tunnel.
- The iHope program goal is to provide
whole genome sequencing diagnostic services
for children and families that otherwise
would not have access to it.
In the past, what we had to do was have some idea
of the kind of genetic problem that it might be.
Whole genome sequencing completely changes that equation.
So when Sophia's mom came with her new questions,
it was a very opportune time.
- Awesome, awesome, are you gonna say thank you?
Thank you.
After I got the diagnosis,
I remember handing him the report.
(sighing)
I remember handing him the report and waiting
to see what his response would be.
And we had been on this journey trying to figure out
what is going on with her,
and I just wanted answers and I honestly
wasn't expecting, I wasn't expecting the result,
to come back and say, oh, well,
she has this terrible condition and at some point
she may slip away from us,
and it'll happen suddenly, most likely,
and then she may not be here with you anymore.
Let's say, good night, rock your baby.
Rock your baby.
- Sophia was found to have a de novo mutation in a gene,
called WDR 45,
it's a rare neurological
and neurodegenerative disorder that is caused
by abnormal accumulation of iron in the brain.
- Sophia's diagnosis is a significant one.
We will be able to follow much more closely
to see if there is going to be any changes
in her neurological status.
- Coming to a diagnosis can be very empowering
because now for the first time,
it allows them to connect with other families,
and to connect with researchers who work
on developing an understanding and potential
therapies for this disorder.
- As awful as it was to get the news,
I did feel a huge sense of gratitude
towards Illumina and all of their people
for finally giving me answers
that finally made everything make sense.
- Give me that one.
You no, no, no.
No, no, no, that was mine.
We finally could breathe a sigh of relief,
in the sense that people are living through
what we're living, and I think it's the lifeline
that we had been looking for.
- I feel comfort knowing that there's others out there.
Had we not done this genetic testing,
I would have never, never been able to reach out
to other families and accept the help
that they're offering us.
I do have a new perspective on life,
and definitely Sofia's life, it is precious to us,
and we don't ever, we don't want to miss a moment.
(soft music)
Wee.