Girl Diagnosed With Rare Genetic Disorder Thanks to Reddit After Years of Inconclusive Testing

PHOTO: Tess Bigelow was the eighth person in the world to be diagnosed with a rare genetic disorder.Courtesy Bo Bigelow
Tess Bigelow was the eighth person in the world to be diagnosed with a rare genetic disorder.

Bo Bigelow and his wife wondered for year why their daughter was different. Bigelow's daughter, Tess, was non-verbal, has gastronintestinal symptoms and seemed to have periodic seizures, but doctors were baffled about the cause.

Bigelow said he and his wife were desperate to understand Tess' condition but that multiple genetic tests didn't give a clear answer. Geneticists figured out that Tess had a mutation on her USP7 gene, but they didn't know if that was at all related to her symptoms.

Bigelow said Tess' doctors ran out of tests to run last year and recommended that he and his wife learn to accept their daughter's condition without a concrete diagnosis.

As a last resort, the family put Tess' story on different forms of social media in the hopes of contacting another family going through a similar ordeal.

"I put it out on Facebook on Sunday morning and my wife and thought it would be pretty long process of posting and re-posting," Bigelow said. "By that same evening, I was on the phone with Dr. Mike Fountain at Baylor College."

In just 24 hours, social media was able to do what multiple doctors in various states could not, they found an answer for Tess' symptoms. Fountain, a researcher at the Baylor College of Medicine in Houston, had been studying USP7 and had found just seven other people with that genetic mutation. A lab associate had seen Bigelow's story and posted on Reddit.

"Someone who shared the lab with Fountain saw it and said, 'Isn’t this the gene you work with?' And he said, 'Yes, it is,'" Bigelow told ABC News.

As a result of reaching out to these specialists, Bigelow said he and his family finally understand what is happening to Tess. The mutation means that the cells "can’t recycle proteins right," which is needed as part of a normal bodily function, Bigelow said.

"You wind up with a neuro-developmental disorder," Bigelow explained in an online blog. "You have intellectual disability and probably autism and seizures."

Tess is now 6 years old but has the mental capacity of an 18-month-old, according to her father.

"She’s almost entirely nonverbal and lot of the time it’s guess work about what she’s thinking or feeling," Bigelow said. "She’s not aware of her own body or own safety, she’ll reach for the hot pan on the stove, everything goes into her mouth. You can’t take the attention away from her for a second."

Bigelow said working with researchers at the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital with the help of Fountain and Dr. Christian Schaaf, assistant professor in the Department of Molecular and Human Genetics at the Baylor College of Medicine has been an incredible relief, even though there is not yet a treatment to help her.

"They've been amazing so far. We really just are getting started with them," Bigelow said. "We are hopeful about some sort of experimental treatment."

Bigelow's posting on social media also led a second family to reach out for help. Bigelow said their child also had a USP7 mutation, but instead of having to wait years to know what that meant, they were able to find out within hours.

"I have a feeling we'll be talking more," Bigelow said.

The effects of the genetic mutation are still unclear, but the family has been able to make small changes that help Tess with vision and skin problems, Bigelow said, noting that in recent years after her diet was changed she's appeared to be more outgoing and social.

"She is really sweet girl. She’s very affectionate and very social now and really lovey," Bigelow said. "In her kindergarten she just loves being around her classmates and she’s a little social butterfly."