Building a Community Around His Daughter's Rare Disease

Editor’s Note: This article previously appeared in a different format as part of The Atlantic’s Notes section, retired in 2021.

This week, I wrote about Lilly Grossman, a girl who got her genome sequenced and learned about the gene behind a mysterious disease that had been depriving her of sleep since the age of four. That discovery also created a community, as other people with faults in the same gene read about Lilly’s story and made contact. And as this network grew, scientists could better define the disease and develop better criteria for diagnosing it. As one scientist told me, “This is something we can expect to see more of.”

He was right. Hours after tweeting about the piece, two followers told me about a very similar case. In an enchantingly written post, Bo Bigelow from Portland, Maine tells the story of his daughter Tess, who has an undiagnosed developmental disorder and a mutation in a gene called USP7.

Encouraged by another family who went through a similar experience, Bigelow created a webpage explaining Tess’s case and asking readers to help find others like her. He published it on the morning of Wednesday, August 12th. Later that day, a friend of the family linked to the page on a subreddit called r/genetics. Somewhere in Texas, a woman read the post on Reddit and said to one Mike Fountain: Isn’t USP7 the gene you work with?

That very same evening:

Then my phone buzzes on the nightstand. I pick it up.

There’s a new email in my inbox. “To whom it may concern,” it starts off. “My name is Mike Fountain and I conduct research at Baylor College of Medicine in Houston, TX.  I believe I have some answers for you and Tess.”

His message continues. “I work with this gene and these symptoms and will publish our work soon.  I know of other patients.”

I know of other patients.  

And he gives his contact info.

I practically drop my phone out the bedroom window, frantically typing my response. We schedule a call with him.

Fountain tells him about seven other kids with mutations in the same gene, all of whom have similar symptoms to Tess.

The rest of Bigelow’s post, which you really have to read for yourself, is a frank, moving, and insightful look at what goes through the mind of a parent when an opportunity like this knocks on their door. You can see the hope, the anxiety, the steely determination to find more patients to help his daughter build the same kind of community that Lilly Grossman found.