Tess Is Not Alone: A USP7 Family's Story

Patient Stories

It's August 2015. My wife and I are on the phone with Mike Fountain, a postdoc from Baylor. Talking to Mike, we're overwhelmed. We want to jump up and down with joy, but we also kind of feel like we might throw up. This is because Mike's telling us he works in a lab with a guy named Dr. Christian Schaaf, and together they're studying USP7, the very gene that is mutated in our Tess. It's this USP7 gene that we think is causing Tess's delays. Causing her not to walk or talk, and to be cognitively at the level of a 1 year old, even though she's almost 6. In fact, Mike says he and Dr. Schaaf are about to publish the first paper about USP7 and its role in this neurodevelopmental disease. Then Mike blows our minds. He does this by saying the following:  "I know of other patients."


A lot's changed in the past two years. Back then, Tess was the eighth known patient in the world. Now we know of 25. Seven of the families met up at a family conference in Houston this year. We came from across six U.S. states and three countries. We laughed and talked and cried, but mostly we just sat together and marveled at the fact that not only were there other families who were going through what we were going through, but now we could shake their hands and hug them and talk in person instead of over Skype. Again and again, in the magical days of that conference, and many times since then, I've heard us all use the same word to talk about each other: family. 

This is our USP7 family. We have a bond that transcends language and borders and crosses the seas. We write each other constantly. We share photos and lab reports from doctors' appointments and hospital visits. We root for each other, sharing our victories. 

And we're a highly motivated group. 

In May we formed a foundation, the Foundation for USP7-Related Diseases (usp7.org). Our mission is to cure this disease. We'll do this by doing two things: funding more research and finding more patients. 

Because that first paper talked about the USP7 gene being like a rheostat, or dimmer switch (fine-tuning everything in our cells in order to make protein recycling happen properly), we hatched this hashtag and slogan for our foundation's effort: #FixTheDimmerSwitch. We made a video to explain this to people.

We're aggressively raising money. We've been steadily selling USP7 T-shirts online, building our army of supporters everywhere. Our first major fundraising event, a gala we hosted here in Maine, raised more than $35,000 this September. We've been sharing our methods with the other families, so they can hold their own events. And we're also reaching out to our friends and families, asking them to raise money for us. We have a long way to go if we're going to fund research that makes a difference for our kids. We won't get there without this peer-to-peer fundraising, so we made a short video about it.   

We've made a short film, an eight-minute documentary about USP7 and our ongoing search for more patients. The film is called "Tess Is Not Alone: A USP7 Story." It premiered in Boston at DISORDER: The Rare Disease Film Festival in October 2017. It won prizes in Rhode Island's Avalonia Festival (Best Documentary Short 2017) and FICOCC: The Five Continents International Film Festival in Venezuela (Special Mention, Documentary Short Film 2017), and as of now it has been selected by two other film festivals. You can watch the film on Facebook and YouTube.

In 2018, we plan to join our annual conference with the one being held by the Foundation for Prader-Willi Research. Since our diseases are so closely linked—along with a third disease called Schaaf-Yang Syndrome—all three of our communities will join forces in Las Vegas next October, in order to do our utmost to collaborate and move research forward that will help us all. 

We have tons of other plans in the works. A phenotyping study. An effort to give our disease a name. More fundraisers. We're just getting started.

Yes, a lot's changed since that first call with Mike, back in 2015, but one thing that hasn't changed is it never stops feeling amazing when we find a new patient, somewhere in the world. It doesn't get old or feel commonplace. Every single time, we are simply thrilled. Our Facebook group for families is abuzz with details about the new patient:  gender, age and location. We email the new family and welcome them. We connect them with Dr. Schaaf. We get on the phone and tell them how glad we are to have found them. And we bring them into the fold and tell them all about the incredible stuff we're going to do together.

Related Stories