We are starting a unique 3-part series about a couple of rare disease Dads finding themselves doing things they never expected. The Disorder Film Festival and the Disorder Channel are two of the most powerful rare disease storytelling platforms on the planet. You might think that a few high-powered media moguls are behind it all.
On today’s show, we are talking to Bo Bigelow whose daughter Tess has Hao-Fountain Syndrome. The thing is, there was no such thing as Hao-Fountain Syndrome a decade ago. All they knew was that their sweet daughter seemed to be falling behind. Something was wrong.
As Bo transitioned from commuting 4 hours a day to a work-from-home Dad, he began to see Tess’s struggles firsthand. This began a search for what was going on. They were unable to get a correct diagnosis based simply on symptoms. They had her genome mapped and were finally able to name the mutation that was causing her problems, USP7. No disease name. No course of treatment. No new prognosis. Just USP7.
Using that tiny bit of information, Bo sent a signal to the world looking for help. You’ll need to listen to the show to hear what he did and where it led.