We have a goal. A bold one. Ambitious, for sure.
If you’ve been following our work at the Foundation for Hao-Fountain Syndrome (usp7.org), you may recall Project Artemis. We wanted to find 100 patients. At that time we only had about 20 or 30, but we knew there were more of us out there. So we launched this mission. We called it Project Artemis because Artemis is the Greek goddess of the hunt, and that’s exactly what we were doing. Hunting for patients. And we nailed it. We got to 100. And now we’ve more than tripled our numbers, holding steady at about 315 worldwide.
This new goal, Project Centauri, is to get 100 more patients onto Matrix, our patient registry platform. Here’s why the registry matters so much.
What the Data Makes Possible
When scientists ask us where our patients are from and whether there are any geographic hotspots, we can answer with confidence. When a brilliant scientist at UConn Health asks us for specific mutations to build cellular models, we can provide real mutations from real patients. When clinicians ask what symptoms we generally see, we can share survey data showing that almost everyone has some kind of speech deficit, many have autism, and seizures are common. Here are the actual numbers.
None of this is possible without data. And the data comes from families joining Matrix and sharing their information.
Last September at our annual conference, Dr. Terry Jo Bichell spoke to our group. She’s a rare disease mom whose son has Angelman Syndrome, and she wanted so badly to find a cure that she went and got her PhD in neuroscience. She’s actually done it. She helped get the pieces in place for an experimental Angelman treatment. So she knows what it takes.
Dr. Bichell told us some hard truths. You won’t get to a cure. You won’t find a treatment. Unless you all share your data. Your genetic testing reports. Your medical records. Your information about what you all go through every day. Without that data, you’re going nowhere.
Privacy Is Built In
We de-identify everything. That means we remove any information that could be used to personally identify the patient, like name, date of birth, and similar details. What’s left is incredibly valuable. Just knowing that there’s a 7-year-old male with a certain type of genetic mutation who has seizures and autism and vision problems is enormously helpful for researchers. No one needs to know who that person is.
Why Your Specific Mutation Matters
Think of USP7 as a long loaf of bread, sliced into several regions. If your mutation is in a particular region, our theory is that your symptoms will be more severe than if you’re in other regions. So it matters where your specific mutation falls.
And it really matters for us to know what symptoms you have. If your mutation is in that particular region and you have many of the symptoms that generally make up our disease, that tends to prove our theory. But if you’re in that region with only mild symptoms, we need to know that too. Because it means our theory’s wrong and we need to go back to the drawing board.
Scientists we’re working with can build models of specific mutations and figure out what’s actually happening in your cells. Does the USP7 protein functiA rare disease dad explains why sharing genetic reports and medical records through a patient registry is the single most important thing families can do to advance research toward a cure.on normally? Does it connect with its partners in the cell the way it should? In other words, what’s going on in the bodies of people who have Hao-Fountain syndrome? Those brilliant scientists can answer those questions, but only if we give them the data.
The Ask
If you are a Hao-Fountain patient or you take care of one, please get on Matrix. And yes, filling out the surveys takes time. Dr. Bichell didn’t sugarcoat it, and I won’t either. But we’ve got to have them. Every new family that joins gives us a better shot at moving toward a cure or treatment.