This is Tess. We faced long scary months

thinking she was the only one of her

kind in the world. When she was born

we knew she was a little bit different.

You know, she wasn't like her older

brother. And it took us a long time to

kind of figure out what doctors to

bring her to. Before long it was

undeniable--Tess was falling months

behind the other kids. This is the story

of Tess, a tenacious little

seven-year-old. You'll hear about how she

was all alone in the world, and how we

asked for help from, of all things, the

Internet.

You'll hear about what happened in Texas.

And what a certain Frenchman predicted.

From the get-go, Tess had a bunch of

stuff going on that made things tough.

We learned her eyes have trouble telling

her brain what she sees. Her hips were

out of whack.

Makes it hard to stand, let alone walk.

There were other things, too. With

digestion. With her not talking. Was there

something making all this happen to her?

Was there a name for what she had?

To find out, we started genetic testing.

Round after round, each time coming up

with no answer.

They even mapped her genome.

And eventually they crossed everything off their list of known diseases.

And we got the results about two years

ago and no one knew how - no one knew

what they meant. It just said, you know,

mutation of unknown significance.

In other words, we were forced to give up our search for a genetic answer about our Tess.

We were trying to just be cool

with that and go with that for a while

and it was hard. Because

it's the kind of thing that, at night, wakes you up, thinking about it,

the unsolvedness of it. It kind of, the way I think of it is, it gets into your bones

and it just bothers you so much.

But then I read an article in The New

Yorker. It was about this guy, a dude from

Utah named Matt Might. Might, as in past

tense of may, or force or power. See, Matt

was a dad in my exact position--his kid

having an ultra rare mutation, with no

other known patients. And Matt hadn't

given up. Instead he wrote a blog post. It

went viral and he found more families

with the same thing. In other words, our

search for Tess wasn't over. There was

more we could do. We parents of the

undiagnosed all do the same thing: we

stay up at night googling our kids

symptoms, trying to find anything out

there about our disease. That dude Matt

had a blueprint, a way to find other

families. He told me how to write my post,

loading it with keywords and phrases

about Tess's disease, to basically make

an Internet beacon--a thing that other

people would find when they Google stuff.

My wife and I decided to try. I followed

Matt's blueprint and wrote about Tess.

And we figured, all right, we're gonna start

this journey of trying to find people,

it's going to take months, it might take

years. Maybe we'll find one other person.

It took 12 hours. It was so fast.

It was literally the following day.

I got an email from this guy Mike Fountain.

I was on my way out to go for a run and I

got an email from a lab mate who said

hey, don't you, don't you work on this

gene? and it was the, sending me a

link to Bo's site, Bo's blog regarding

Tess. They put all of Tess's information

there, enough for us to say, there were

symptoms, there were phenotypes that were associated

there was all the mutation information

and enough for us to say there is a USP7

variant here and it might have a

link to this. I really think you know we

have some form of an answer.

Mike told us there were seven other patients. Tess was the eighth.

He put us in touch with his

boss, Dr. Christian Schaaf, the geneticist

at Baylor who studies the USP7 gene.

He explained what USP7 does.

USP7 here stands for ubiquitin specific

processing protease number seven is an

important protein that has a role in the

processing of proteins, as the body has

to decide whether proteins within the

cell should be recycled or should be,

or should be degraded. What if USP7 doesn't work right? These are the symptoms that we've seen in Tess. When

she was little she had neonatal

hypotonia, also called low tone. Feeding

problems. Intellectual disability. Autism.

Abnormal brain MRIs. Eye problems-- crossed eyes. GI issues, mainly reflux or GERD

Definitely some speech issues--can't talk

and when we talk to her,

we can't be sure what she understands.

Really short for her age. And she's

always had motor issues--didn't walk

until age five, she's had a hard time

picking stuff up, holding it, that sort of

thing. And then we found out for the

first time what it's like for other kids

with the USP7 mutation. Last week we

just met six other families. You know, got

all of these families together. And you

look at these kids, and they look like

siblings. More so than they look like

their real siblings. They have so many

shared features. At the conference we

learned about the other symptoms that

Tess doesn't have. Seizures. Behavior

stuff. Tight joints. Hypogonadism. Aside

from learning more about the disease, it

was amazing to just connect with

everybody. Um, and it wasn't till she

turned 18 that we found this group through

Facebook, through Bo and finally it was, it

just seemed unreal. It was like, finally

there's an answer. And she belongs.

It was just really comforting to have another

family that kind of understood what we

were going through and how scared we

were in the unknown.

And to have found a new family to me that's really powerful, it's, um,

to feel that we're not alone, and what an

incredible family we've met, and looking

forward to all the future possibilities.

And today in fact we have a new goal and a new project in life

which is to succeed in curing Zoe and the other girls

and all the other children who have the same disease

We have a very positive attitude

and we know that we will succeed

Did you hear what the French

guy said? Yep. We're working on a cure for

the USP7 disease. But first we got to

find more patients. I have a blog and a

weekly podcast called Stronger Every Day

that got us to this point. It's working

so far. We've got over 20 families now. We

need to find more, though. And that's

where you come in. Tell everyone you know

about us. About this whole crazy story

about USP7. About Tess and Zoe and Ella

and Ella and Justin and Clara and all

the other kids. Now that you've seen this,

you're in the Tess Army. Visit our

website for more information and to help

us get the word out. Thank you.