For most of our 7-year-old daughter Tess’s life, we’ve been on our own. Her ultra-rare mutation in her USP7 gene has no awareness day, bumper sticker or fun run. Sure, friends and family have rallied around her and us, and they’ve been great. But there’s nothing so isolating as thinking you’re the only one of your kind. It’s been a lonely struggle.
So we had high hopes when we journeyed to Houston recently for the world’s first USP7 conference, to meet with other patient families and the team at the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital who studies her gene.
It was on; from the moment we met the other families, moms and dads and sisters and brothers, who’ve lived our struggle, who know that travel can be an endurance sport, who celebrated the day their child first walked or are still hoping for that day to arrive. I imagined we’d pow-wow, brainstorming strategies about communication and sensory diets, and there was some of that. But, mostly we were able to just exist. We found comfort in simply sitting in a room together and not having to explain about Tess. Meeting them was a beginning, not an ending, we now know. We have our USP7 family.
We also met her team. We met Dr. Christian Schaaf, who runs the lab that studies USP7. It blew us away, to grasp the scope of his work, to witness his command of not only our gene, but a complex web of related genes and syndromes. And when you think of a geneticist, you generally don’t think of the words fun or affectionate. But Christian is both. As we were all gathering for the first time, he scampered around the conference room playing a game of chase with all the kids. And he held Tess’s hand and said her name and played with her.
We shook hands with Mike Fountain, the guy from Dr. Schaaf’s lab who’d called us a year-and-a-half earlier and delivered the news we’d been longing to hear for almost Tess’s entire life, “I know of other patients.” We’d been through so much talking to Mike over the previous months, I felt like John McClane at the end of Die Hard, when he finally meets Al face-to-face.
Most of all, we felt the energy the conference sparked in our group. The families all felt it. We’re energized by the simple act of uniting in person. All of us are looking to the future, talking about the next time we can meet and what we can all do in the meantime to find more patients and get going with even more research. Dr. Schaaf’s team feels it too. They’ve embraced us and are ready. We can’t wait for what’s next.