Her Doctors Couldn't Solve Her Health Mystery. Facebook Did
Tess Bigelow has incredibly rare USP7 mutation
By Arden Dier,  Newser Staff
Posted May 5, 2016 7:46 AM CDT
Updated May 8, 2016 10:25 AM CDT
Tess, and her dad, Bo Bigelow.   (Facebook)

(Newser) – Social media has helped solve the mystery of a young girl's health problems when her doctors couldn't. Bo Bigelow says his 6-year-old daughter, Tess, is non-verbal, has the mental capacity of an 18-month-old, and suffers gastrointestinal issues, periodic seizures, vision problems, and hip dysplasia—yet multiple tests failed to come up with a solid diagnosis. Doctors told Bigelow and his wife to accept that they might never know what was wrong with their daughter, reports ABC News. Instead, in the hope of finding similar cases, they shared Tess' story. "I put it out on Facebook on Sunday morning and my wife and (I) thought it would be (a) pretty long process of posting and re-posting," Bigelow says. That same day, a lab associate at Baylor College of Medicine in Houston saw the story and noticed Tess' symptoms resembled a rare genetic condition a colleague was studying.

"By that same evening, I was on the phone with Dr. Mike Fountain," who had found just seven people suffering from the USP7 gene mutation, which means cells "can't recycle proteins right" and causes a neuro-developmental disorder known as Schaaf-Yang syndrome, says Bigelow. "You have intellectual disability and probably autism and seizures." The family is working with researchers and is "hopeful about some sort of experimental treatment." But Bigelow is also focused on connecting with others through his podcast, which he created after his post helped a family realize the consequences of their child's USP7 mutation, per Medical Daily. "You hear the term 'rare disease,'" he says. "If you look at all the so-called rare diseases, it appears that there may be as many as 39 million people afflicted with them. The idea that you are alone is fading away as we connect with people."