Facebook helps solve the mystery of a little girl’s rare disorder

The power of digital community has helped a family solve the mystery behind a little girl’s health problems.

Bo Bigelow told ABC News that his 6-year-old daughter Tess has the mental capacity of an 18-month-old and suffers ‘gastrointestinal issues, periodic seizures, vision problems and hip dysplasia.’ Doctors ran several tests but could never determine a solid diagnosis.

Bigelow says doctors even told him and his wife that they should accept the fact that they may never know exactly what’s wrong with their child.

But that mystery just wasn’t something they were willing to live with. So they decided to share Tess’s story in hopes of possibly finding an answer.

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How social media helped solve a girl’s health problems

‘I put it out on Facebook… and my wife and (I) thought it would be (a) pretty long process of posting and re-posting,’ Bigelow told ABC.

That same day, someone saw their story — a lab associate at Baylor College of Medicine in Houston who noticed that Tess’s symptoms were very similar to a rare genetic condition a colleague happened to be studying.

‘By that same evening, I was on the phone with Dr. Mike Fountain,’ Bigelow told ABC.

Fountain had just identified several people suffering from the USP7 gene mutation, a condition in which cells ‘can’t recycle proteins right’ and ’causes a neuro-developmental disorder known as Schaaf-Yang syndrome,’ Bigelow said. ‘You have intellectual disability and probably autism and seizures.’

The family is now working with researchers to uncover more information about the condition and Bigelow says they are ‘hopeful about some sort of experimental treatment.’

Bigelow is also focused on connecting with other families using his podcast, which he created as a way to reach people who are facing similar situations.

‘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,’ Bigelow said. ‘The idea that you are alone is fading away as we connect with people.’

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