Through Social Media, Family Connects to Rare Diagnosis – And Hope

If you are suffering from an illness fewer than a dozen people in the world are known to have, getting a proper diagnosis can start to feel like a hunt for something that doesn't exist.

That's the position one family found themselves in before they turned to social media in search of an answer, managing to discover in one day an answer that had eluded doctors for years.

It's a story that illustrates the power of crowdsourcing. Tess Bigelow, six years old, became the eighth person in the world known to have a mutation of the gene called USP7. This defective gene could be the reason she functions at the level of an 18-month-old child, with developmental delays in basic functions such as walking and talking.

Last August, Bo Bigelow, Tess' father, put up a website about his daughter's genetic mutation then posted it to Facebook and Twitter. From a press release about the case sent out last September by Baylor College of Medicine in Houston:

"Help us find others like Tess." Bo Bigelow's plea jumps off the page of his blog, echoing across the continent from his leafy green home city of Portland, Maine.

When he posted his call to action, all he knew was that his young daughter has a mutation in her USP7 gene and that she has global developmental delay, hip dysplasia and visual impairment caused by her brain (not a problem in her eyes themselves) among other health issues.

Bo and his wife, Kate, who live in Maine, hoped to find other families affected by the same mutation.

"We thought we were embarking on this months- or years-long odyssey to find at least one other person," says Bo Bigelow. "And instead, by that evening we were on the horn with Baylor. They found us in less than 24 hours, and it’s from people being so great about spreading it and having their friends spread it."

It was a friend of Bigelow's brother-in-law who posted Tess' case on Reddit. That's where a worker at a Baylor lab spotted it -- a lab that is one of the few in the world studying USP7.

Most striking of all, Bigelow says, that first email from Mike Fountain, a predoctoral fellow in the lab, said the Baylor team had identified other families who had children affected by the same genetic mutation. Just connecting with them has eased Bo and Kate's worries.

"These days there are ribbons and awareness-weeks for so many diseases," Bigelow says, "but when yours is ultra-rare, you feel completely isolated. You feel like you're never going to hear another person say, 'Us too!' And being connected to other families changes all that."

Fountain's colleague, researcher and Baylor genetics professor Christian Schaaf, had already found seven children around the world with USP7 mutations and symptoms similar to Tess'. Schaaf and 18 of his colleagues were getting ready to publish research in the journal Molecular Cell describing how USP7 becomes a "disease gene."

USP7 and two other genes are critical in the process of recycling and breaking down the proteins in a cell that are no longer of use. This process keeps all the work of our cells in balance; when it's out of whack, it can lead to cancers, neurodegenerative diseases or genetic disorders.

Bigelow says the family doesn't yet have official confirmation that Tess' symptoms are caused by her genetic mutation. Baylor researchers are examining that now and he expects to hear soon whether the lab will accept her for inclusion in potential treatments, now in development. Meanwhile, he says, Baylor asked him to use his website and social media skills to search out other families, and he's found two more who have children with a USP7 mutation.

Crowdsourcing Diagnoses Takes Hold

Patients or parents like Tess' who are seeking answers to seemingly unsolvable medical mysteries have new tools to reach out, not only on social media, but in crowdsourcing websites like CrowdMed, a subscription service for people seeking answers to medical conundrums.

At CrowdMed, people who have symptoms but have yet to find a diagnosis seek opinions from the site's "medical detectives," only some of whom are medical professionals.

The process involves patients posting their symptoms and other relevant data, opening their case up to the site's diagnostic community. When a diagnosis is offered, the other "detectives" vote on it, and that opinion moves up or down according to those votes and the weight assigned to each diagnostician, which is determined by their past accuracy.

"We call it a stock market for diagnoses," CrowdMed co-founder Jessica Greenwalt told Future of You editor Jon Brooks at a University of San Francisco medical technology conference in March.

She said the site had resolved close to 800 cases in which the patient has reported the CrowdMed diagnosis was correct.

"The nice thing about not limiting it to physicians," Greenwalt said, "is we get people who are not stuck in the same method of thought training. Or they're not afraid to suggest the rare diagnosis. We see this a lot, where doctors are afraid to say it might be this rare condition."

A writer who reviewed CrowdMed for Elle discovered one of the common pitfalls of self-diagnosis: worrying about a range of diseases she'd never heard of. But she also wrote she felt encouraged to do research about her health and supported by the care people offered in listening to and responding to her case.

"While reporting this piece," wrote Molly Langmuir, "I vacillated between viewing CrowdMed as a dire indictment of our medical system—things are so bad we've had to turn to a bunch of strangers who may or may not have had medical training—and a heartening sign of progress, a surprisingly effective way of putting the 'care' back into health

MyGene2 is another crowdsourcing site. It serves as an information hub where those with rare genetic disorders can share information, and researchers and clinicians working with a particular condition or gene can contact people who may benefit from new treatments or ideas.

The site just went live this spring and already features more than 100 families and 87 different problematic genes.

Jon Brooks contributed to this post.