When Bertrand was born, he really baffled doctors.
At the end of four years, we finally got an answer.
This disease had never been documented before, anywhere.
Matt and Christina Might were alone.
-We know essentially nothing about this.
So, if anyone is going to do anything
about this disorder, it just became us.
(dramatic music)
Matt and Cristina Might live in Alabama
with their three kids.
And because of Bertrand's condition,
it's a lot of work.
Nothing really prepares you for this.
At the start, Bertrand was having, in many cases,
hundreds of seizures per day.
-Bertrand just kept screaming nonstop.
I mean, he would wake up every hour and a half
to two hours, just screaming.
For four years, we tried to figure out what was going on.
And I remember saying that we're going to do everything
possible and when we run out of the possible,
we'll do the impossible.
Science is where you turn
when you have to do the impossible.
Matt didn't have much experience with biology,
but he was a professor of computer science.
And he wondered if genetic testing could help them
finally get a diagnosis.
-So, the human genome is like the manual of operations
for the human body.
It's how to build you, and how to operate you.
He got an idea.
Could they compare his DNA with Cristina and Bertrand's?
I was thinking, gosh, couldn't we just take
the three of our genomes, compare them, like strings,
like we do in computer science, and find the mutations
where we differ?
because these are likely causing the disease.
And, it worked.
He had inherited a mutation from me and a mutation
from my wife Cristina in a gene called NGLY1.
And what this did is it wiped out the function
of this gene and caused his condition.
So this was exciting.
After four years with no answers,
they finally got a diagnosis. But they had mixed feelings.
-There's tremendous excitement
that we have ended one journey.
And then terror that we were about to begin another.
To find treatments, they needed more research.
And for that, they needed more patients.
Matt was told that could take decades.
They didn't have that long.
So he tried an unconventional approach.
He wrote a blog post.
-I carefully designed this blog post
to really do two things.
It had to go viral,
and it had to rank very highly in Google Search results.
So that if there were other patients or parents that were
out there and searching for the same kind of symptoms,
they would land on this page and they would find us.
-Because of this blog post, within two weeks they
identified the next patient with NGLY1 deficiency.
Matt and Cristina were becoming the experts.
And making progress on this disease, it was up to them.
-Describe your lifestyle right now.
[laughs]
My lifestyle right now is uh,
I, um...
-Hey, looking for Matt? -Yes.
I live on planes,
I travel a lot because I'm trying to really
start a movement.
Matt is on a mission to build a community of patients,
researchers and doctors, and ultimately to figure out
how to help Bertrand.
-Good to see, how are you?
And so I started heavily collaborating with other scientists
to understand this disease and to try to treat
and ultimately cure it.
In addition to these new collaborations,
Matt was also doing some experimenting on his own.
Strangely enough, he couldn't cry tears
and I predicted Bertrand was deficient
in a particular compound called N-acetylglucosamine.
And it turns out if you Google that,
you can just buy it on the internet.
So, I took it and I didn't die, so we put him on it.
I didn't know what to expect.
And after about three days, something changed.
He was was crying real tears for the first time in his life
and I was shocked.
Through this experience, Matt became an advocate
for something called precision medicine.
Which is all about delivering the right drug
to the right patient at the right time.
It's a more personalized approach using things like
family history and genetic testing, and a key component
of precision medicine is drug repurposing.
Testing existing FDA approved drugs for rare disease,
in addition to developing new ones.
And for Matt, it's also about incorporating
some computer science.
We simulated 200,000 potential drugs and we found 70
that looked like they might actually work.
14 were already FDA approved and one worked in the lab.
And that was Prevacid.
Prevacid is actually heartburn medication.
They didn't really know what to expect,
but they gave it to Bertrand.
-It's transformative.
Now, he has no clinical seizures.
He used to go to the hospital many times per year.
He's not had a major hospitalization whatsoever.
Bertrand is happy, and as a parent that's victory.
Thank you, baby.
It's called "I Love You Through and Through."
I love you through and through.
I love your topside and your bottom-side.
I love your inside and your outside.
I love your happy-side,
and your sad-side.
Your silly-side, and your mad-side.
I love you through and through.
Yesterday, today and tomorrow too.
The End.
Since Bertrand's diagnosis,
Matt has totally changed careers.
He spent time at Harvard Medical School, the White House,
and now he is running the Precision Medicine Institute
at the University of Alabama, Birmingham.
He hopes to improve the application
of precision medicine techniques for all diseases.
All right, here we go! [crowd chatting]
Cheer, give him the cheer!
[crowd cheering]
Matt and Christina have helped to identify over
70 patients who have NGLY1 deficiency, none of whom
would have been diagnosed without their work.
And perhaps as important, they are part of a knowledgeable,
supportive community.
To go from a totally unknown disease, to having multiple
therapeutic treatments available in just six years?
That's incredibly fast.
But for Matt, it's just about doing
whatever he could to help Bertrand.
Science is the systematic transformation
of the unknown to the known.
It is therefore, necessarily,
a transformation of the impossible to the possible.
So science itself becomes the kind of medicine that you take
when there is no medicine that you can.
[gentle instrumental music]