A month ago, we set what felt like an audacious goal. We called it Project Centauri, and the mission was simple to state and hard to execute: get 100 new families onto Matrix, the online platform where our patient registry lives for Hao-Fountain syndrome.
I’m pretty darn happy to tell you that in just four weeks, our Matrix population has doubled. We now have families from 26 countries around the world and 29 U.S. states represented on the platform.
How is this happening? I’m contacting people directly. And when I say I, I mean I. If you’re out there and you’re getting an email from me, it’s because I personally wrote it and sent it to you. No bulk emailing service. No form letters. These are messages from me to you.
And you’re responding. You’re reading those emails, getting on your laptops, registering with Matrix, uploading your information. You’re making this happen.
The most important thing right now is to go even further. We’re only about 30 families away from hitting our goal of 100, and I’m confident we’ll get there. But if you’re already on Matrix, I need you to take the next step. Upload your genetic report. Give us access to your medical records.
Privacy is enormous for us, because we know it’s enormous for you. We will never share any information from your genetic testing report or your medical records unless it’s de-identified, meaning we strip out anything that could be used to figure out who you or your child are. Names, dates of birth, all of that gets removed before any researcher ever sees the data.
Maybe you’re listening because you care. You’re a well-wisher. An ardent supporter of our tribe. And maybe you want to help.
We need to expand our circle and get in front of audiences that don’t know about us yet. In our cohort, the number of people over 18 is strikingly small. There’s only a handful of adults we’ve been able to find who have Hao-Fountain syndrome. Either they have the diagnosis and simply don’t know about the Foundation for Hao-Fountain Syndrome (usp7.org) and its efforts, or maybe they don’t even have the diagnosis yet but carry a USP7 variant and need more or better genetic testing.
So if you have any access to an agency that provides services to adults with disabilities, adult genetics clinics, rare disease patient advocacy networks in countries outside the U.S., or genetics clinics anywhere in the world, we’d love to hear from you.
I just got the best email from a dad in Brazil whose daughter has Hao-Fountain. That same week, a mom in Italy sent me a picture of her daughter hanging out with friends. We have families sharing their medical records in German, Chinese, French, Portuguese, Russian, Arabic. We are everywhere. And I know there are more out there, waiting to find us and to be found.
Great things are happening. We’re going to crush Project Centauri in weeks, not months. We’re going to fill what one of our advisors called the biggest gaping hole in our work: collecting data. Without that information, we go nowhere near a cure or treatment. But with it, we have a real shot.