If you are a Hao-Fountain patient or you take care of one, I need you to get on Matrix.
Matrix is the online platform where our patient registry lives for Hao-Fountain syndrome. What’s a patient registry? It’s the collected information about each of our patients: their demographics, their genetic data like their specific mutation, and sometimes medical records showing their symptoms. The Foundation for Hao-Fountain Syndrome (usp7.org) maintains this registry, and it’s the engine that drives everything we do toward finding a treatment or cure.
The Hard Truth From Someone Who’s Done It
Last September at our annual conference, we were fortunate to have Dr. Terry Jo Bichell speak. She’s a rare disease mom whose son has Angelman Syndrome. She wanted so badly to find a cure for him that she got her PhD in neuroscience. And here’s the thing: she actually did it. She helped get an experimental treatment in place for Angelman.
Dr. Bichell spoke to our group and delivered some hard truths. She said: you won’t get to a cure. You won’t find a treatment for Hao-Fountain syndrome. Unless you all share your data. Your genetic testing report. Your medical records. Your information about what you go through every day. What behaviors you see. What symptoms you observe. Without that data, you’re going nowhere.
Why Your Data Specifically Matters
Think of USP7 as a long loaf of bread, sliced into several regions. Our theory is that where your specific mutation falls within that loaf determines how severe your symptoms will be. Mutations in certain regions may cause more severe presentations than those in other regions.
So it matters enormously to know both your mutation and your symptoms. If you’re in a particular region and you have many of the symptoms common to Hao-Fountain, that supports our theory. If you’re in that same region with very mild symptoms, we need to know that too, because it means we need to rethink.
What’s truly mind-blowing is that we have scientists who can take specific mutations and build cellular models of them. They can figure out what’s actually happening inside cells with that mutation. Does the USP7 protein turn on properly? Does it connect with its partners the way it should? Those are the questions these scientists can answer, but only if they know what mutations to study.
I’ve had parents at our conferences sit in the audience as a scientist puts up a slide showing a cellular model of their child’s exact mutation. The feeling of seeing that on the screen, a mutation that’s been etched on your heart since diagnosis, and hearing someone explain what’s happening inside your child’s cells? People are weeping and laughing at the same time. Because finally, somebody is working on answers.
I Get It
What you’re doing right now is insanely hard. You carA rare disease father makes the case for why every family affected by Hao-Fountain syndrome needs to join the patient registry, and why the data they share could change everything.e for someone with this disease. I do too. They say the stress we endure as rare disease parents can be compared to what combat soldiers go through. Your to-do list is as long as both your arms. Some days I barely feel like I make a dent.
And filling out the surveys on Matrix takes time. Dr. Bichell didn’t sugarcoat it and I won’t either. This isn’t a five-minute, check-the-box-and-move-on-to-those-eight-loads-of-laundry kind of thing. But we’ve got to have it.
Every new family on Matrix gives us a better shot at moving toward a cure.