- Alexandra is amazing.
She is the brightest light in any single room you enter.
Rolling back the tape a little bit, when we were pregnant,
we had just a wonderful, noneventful pregnancy.
We're at the hospital.
We got here, been laboring since 1 in the morning,
and then we got here around 6.
And she was born healthy.
Between nine months to a year, we noticed she was missing
some milestones and we were concerned,
and we brought up those concerns to her pediatrician.
They listened to our concerns and referred us
to Phoenix Children's Hospital for a chromosomal microarray.
So we got in with their geneticists there,
and a few weeks later I got a phone call.
And my cell phone rang and it was the extension
of Phoenix Children's, and my heart just like stopped.
(soft dramatic music)
On the other end was our neurologist actually calling,
and said that he received the results,
and they came back with an abnormal gene on chromosome 18.
He had said the words Pitt-Hopkins and TCF4
and all these words, and basically she's missing one gene.
It's called TCF4.
Immediately I was connected
with the Pitt Hopkins Research Foundation,
and just started reading and learning and discovering
more about this new world
that we were just literally launched into.
(gentle music)
- Pitt-Hopkins is a very severe syndrome.
It involves major challenges so that most of the children
can't talk, most of them can't walk,
they have an IQ around that of a 1-year-old,
even as adults, and they have major autism symptoms,
meaning very limited social interaction,
often repetitive restrictive behaviors.
One of the worst problems in terms of quality of life
is severe gut pain.
- Constipation is a big issue with Pitt-Hopkins,
and GI issues many times are associated with the gut flora,
the gut microbiome.
Actually the gut microbiota and GI issues
is what convinced me that I should work with Dr. Adams
in autism, because when I learned that many children
with autism have a lot of GI symptoms,
and that if you can actually make those GI symptoms
be better, reduce those GI symptoms,
their behavior improves.
- [Nicole] Most people with Pitt-Hopkins syndrome
never learn to speak.
I'm really, really grateful that we found out early enough
that we could pivot, and offer her an alternative
to finding her voice.
And so she uses AAC,
which is alternative and augmented communication.
It's essentially an iPad that she uses as her voice.
And she's come so far.
Through the support and amazing infrastructure
here at her school, she's thriving.
And while she's on a different trajectory
than most neurotypical kids, she's on her scale,
and every week we learn another new little thing
that she's mastered.
And we like to call those inchstones, because honestly
in our life, milestones are just too far apart.
So where most kids are trucking off to T-ball practice
or soccer practice or swim lessons,
she's learning how to walk.
(gentle music)
- When my daughter was diagnosed with autism
at age 2 and a half, we were devastated
to be told that she had a challenging disorder
that would affect her the rest of her life.
My wife and I just decided we're going to love our daughter
as much as we can and try to support her.
But then a few years after that, my wife encouraged me
to look into research and to say, "Can we make a difference?
Can we find treatments for it?"
And so that was when we began looking
into nutritional interventions.
So we're researching the causes of autism,
how to treat it, how to prevent it.
And as part of that we're also looking into children
with Pitt-Hopkins because that's a special
single-gene disorder that often involves autism.
- There are a lot of universities that are doing
a lot of research on autism and the microbiome,
and they work with mouse models and they...
Well, we are the first ones that showed that,
by changing the microbes in the gut on kids with autism,
you get improvements in GI and in behavior.
We're the first ones to show this in the world.
- [Nicole] When they had started publishing their research
on what they were able to do for the autism community
in this space and truly eradicate the GI issues
within the autism population,
that really attracted the attention
of us in the Pitt-Hopkins syndrome world.
And so through Dr. Adams and Dr. Rosa's research
at the Autism Research Center, and of course Biodesign,
and Arizona State University at large,
they literally are the leading in MTT,
which is microbiota transfer therapy.
- [Dr. Rosa] The treatment that we started is, what we do is
we add microbes that come from healthy humans.
The microbes come from feces and they get purified,
and they can be put on a capsule.
They can help reduce the constipation,
which is a huge burden for these children.
And if GI gets better,
normally also there's comfort for the children.
So they're more able to learn, they're more able to listen,
they're more able to do a lot of things
that was difficult when they were in such deep pain.
- [Nicole] Personally, I just feel so fortunate
that Arizona State University has taken on the very ever
first human trial for Pitt-Hopkins syndrome patients.
- [Dr. Adams] We're hoping within a week or two
to hear from the FDA that we can go ahead and apply
for drug approval of this treatment for Pitt-Hopkins.
So we formed a company to raise funding
so we can pay for the application to the FDA, and then also
to continue researching these treatments for autism.
It's just so exciting to see the improvement
in these children, to see that for some of them
it's the first time they haven't had this major gut pain.
And to see that now, as many parents say
their child just is happier.
- It is a dream, honestly, to think that one day
Arizona State University could help eradicate
the most debilitating issue
of Pitt-Hopkins in my daughter, period.
Just being able to say that, it brings tears to my eyes,
because ASU is known for a lot of amazing things
in this world.
There is no shortage of headlines
on how ASU is changing lives.
But now ASU is truly changing the life of my daughter.
Knowing that this research can truly help her
for life is amazing.
Yeah. Give me that smile. (Alexandra laughs)
(ambient music)