'Rare, but not alone': Family of sick girl finds diagnosis using Reddit

In less 24 hours social media was able to do what had eluded medical experts in several states -- solve the mystery around Tess's condition.

FALMOUTH, Maine (NEWS CENTER) — The family of a little girl from Falmouth who spent years searching for the cause of their daughter's health problems found new hope thanks to social media.

Since birth, 7-year-old Tess Bigelow has suffered from developmental delays, communication and vision issues and gastrointestinal problems.

As a last resort, her parents posted her story on social media to find others with the same condition.

In less 24 hours social media was able to do what had eluded medical experts in several states: solve the mystery around Tess's condition. 

At the time Tess was the eighth person in the world diagnosed with a rare genetic disorder. Now her parents are searching for more families in an effort to find a cure.

Doctors told her parents Tess suffered from a mutation on her USP7 gene, but they were unable to give a diagnosis for her symptoms and if the mutation was the cause.

Unwilling to accept Tess's condition without a clear cause, they posted their's daughter's story on social media.

"Literally less than 12 hours later we get an email from this guy at Baylor," Bigelow said.

A graduate student at the Baylor College of Medicine in Houston had been studying USP7. Researchers had so far only found seven other people in the world like Tess. The little girl is now the eighth person to join their study. Her parents also found out what is happening to Tess.

Researchers and the foundation have helped identify more children throughout the world raising the number from 8 to 22. More than half a dozen children with USP7 met for the first time this spring in Houston. 

"They have similar features. They look more like siblings than their own siblings," said Tess's mother. "That was even more powerful. Yes, we are rare but we are not alone."

If you would like more information on the foundation you can go to http://usp7.org.

© 2017 WCSH-TV


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