How Our Rare Disease Community Doubled in 30 Days

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.

When I Gave My Daughter Four Times Her Seizure Medication

It’s Saturday morning. Tess is getting up for the day. Except that she isn’t. She’s falling over. Constantly. Can’t keep her balance, walking into walls, falling on stuff. She can’t stand up on her own, can’t even think about going up or down stairs. We can’t figure out what’s going on.

It occurs to us that her ADHD medication, guanfacine, has recently doubled. It can affect blood pressure, so we think maybe that’s the problem. We sit with her all day, trying to keep her safe and still. She’s out of it. Pretty tired, and unable to stand or walk on her own.

That night, after we’ve given her all her evening meds, my wife figures it out. It’s not the guanfacine. It’s her seizure medication, Lamictal.

My Mistake

I fill Tess’s pillbox every week. She’s been on Lamictal since her seizure on New Year’s Eve. The thing about Lamictal is that it was a 25-milligram pill. Once we worked her up to her full dose of 200 milligrams, that’s 8 pills every night, which is a lot on top of her other medications. So I’d contacted her neurologist and asked if he could prescribe a higher dose per pill so she wouldn’t have to take as many.

What I didn’t realize is that he’d already done this. The new pills were 100 milligrams each. And I had refilled her pillbox with 8 of them. For four nights in a row, she’d been getting 800 milligrams when her dose should have been 200. Four times what it should have been. Because I didn’t look at the label.

The ER

We called poison control. They told us to go directly to the emergency room, where Tess would get an EKG to check the electrical activity in her heart. We drove to the ER, got right in, and the EKG results looked alarming. I’m no cardiologist, but I knew what I was seeing didn’t look good.

They gave her IV fluids, got her comfortable in a bed, and we waited. I was positively ill, thinking about my mistake. How careless it was. How I could have given her medication without looking at the label. How awful it must have felt for Tess over those days as the quadruple overload took effect. How avoidable this was.

Tess fell asleep around 8. We were there for six or seven hours. Just before midnight, they gave her another EKG. It looked much better. She was cleared to go home. Her neurologist happened to be on call that weekend and told us to give her no Lamictal for a day, then slowly get back to her 200-milligram dose.

No Tidy Lesson

Tess is doing much better now. She can walk on her own again, back to going up and down stairs.

This is our third trip to the ER with Tess since last August. Seizure, seizure, medication overdose. Hard to believe she’s been through so much. Hard for me to think about the fact that the third time was entirely avoidable and entirely, 100 percent my fault.

I still feel terrible about it. I don’t have a tidy lesson here. No “here’s what I learned” moment. I just wanted to put this out there because I know I’m not the only caregiver who has made a medication error with their child. Research shows that every eight minutes, a child experiences a home medication error. If this has happened to you, know that you’re not alone, and the guilt is real.

The Stronger Every Day podcast is produced by Bo Bigelow, Chairman of the Foundation for Hao-Fountain Syndrome (usp7.org).

How AI Is Helping Our Rare Disease Foundation Work Toward a Cure

Ask anyone who works a difficult job what resource they wish they had. Chances are, they’ll say time.

My wife and I say this to each other constantly. How was your day? Ran out of time. Massive to-do list, never stopped moving, never stopped working, and still couldn’t get to everything. I’ve definitely felt that way about my work with the Foundation for Hao-Fountain Syndrome (usp7.org). I want to be in touch with more families. I want to get more people on Matrix, our patient registry platform, as part of our new initiative, Project Centauri. I want to do a million things more than I have time for.

So recently, I’ve been exploring what AI can do for us. And I’ve made some major headway.

The Chatbot That Didn’t Cost $30,000

For years, I’ve been asking developers to build me a chatbot. The ideal scenario: I draft a comprehensive document with answers to every question newly diagnosed families ask. Things like, what do I do first? Which doctors should I take my kid to? The chatbot would guide them through all of it without requiring a phone call or a chain of emails.

Every developer I talked to quoted $25,000 to $30,000. Then I presented the same question to an AI platform. About an hour later, I had a working chatbot. No developer needed.

It’s not quite ready for prime time yet, but early testing is promising. The chatbot is designed to shepherd newly diagnosed families through the process of joining our foundation, connecting with Dr. Christian Schaaf (the world’s expert on our gene and disease), and getting onto Matrix. And if things get complicated, it connects them to a human.

The Research Assistant I Never Had

I’ve always admired the behind-the-scenes assistant who reminds the boss about things falling through the cracks. So I told the AI about the various scientists working with us, our short-term goals, and what science we still need to nail down. Then I asked: who’s missing? Who should be on our team but isn’t?

The AI read through a pile of scientific papers and came back with names I’d never heard of. Scientists whose work would help us immensely. I’m no fool, so I didn’t start drafting emails right away. I asked to see the papers, read them myself, and found that the AI was right. These researchers would be an excellent fit. I’ve reached out to some of them and am waiting to hear back.

This function of AI as an assistant that can step back, look at things, and figure out what you’re missing is huge for a one-person operation like mine.

The Dashboard That Took Minutes, Not Weeks

Project Centauri has us tracking dozens of families at different stages: some on Matrix but without their genetic report uploaded, some with medical records but no genetic data, some not on Matrix at all. Tracking all of this manually would make your head spin.

So I had the AI build me a dashboard. I can see how many people are on Matrix, how many have completed each step, when they were invited, and what I need to do next. It’s a simple spreadsheet that would have taken me ages to build on my own. It took a few minutes.

These homemade tools, these methods of measuring our impact, of seeing what families are doing or not doing, it’s like having a bunch of new employees. Departments, really. The way we’ve always operated is that if we need a thing and it doesn’t exist, we have to make it ourselves. I’m glad that AI is making that possible without eating up entire days.