Undiagnosed diseases featured in documentary

Jade Mingus

AUSTIN -- In the months after Braxton Vaughan was born, his mom worried days at the park would never happen. Her normal pregnancy ended with unanswered questions when her newborn son stayed in the hospital for weeks, his symptoms puzzling doctors.

"The genetic tests they did in NICU all came back normal, so they had no clue what was going on. For the first two years that's how it was," said Braxton's mother, Vanessa Garcia.

Genetic tests couldn't determine why Braxton had a brain abnormality, hearing and vision problems, a heart defect and pinky and ring fingers fused together. One doctor said Braxton wouldn't live past one month.

"Everything was very piecemeal and the not knowing was the worst part," said Garcia.

Finally her family got the answers they were so desperately seeking; Braxton has Rubinstein-Taybi Syndrome, a rare disorder. He is among the millions of patients hoping for a diagnosis and a treatment plan.

"With over 7,000 rare diseases, no one doctor can keep up with all of those," said Garcia.

The documentary "Undiagnosed: Medical Refugees" features Braxton's story and dozens of others struggling to find answers. The project is 80 percent finished, fundraising is underway on Kickstarter to complete it. So far, $20,000 has been raised of a $150,000 goal.

The film's creators are working with Austin non-profit, "U.R. Our Hope," to bring change in the medical community and find a better system of sharing information on rare diseases.

"I don't think the non-medical community really has a grasp of what undiagnosed looks like and what it's like to not get services because we don't know what's wrong with you," said U.R. Our Hope medical liaison, Mary Elizabeth Parker.

U.R. Our Hope helps families with undiagnosed medical issues connect with specialists, find second opinions, sign up for Medicaid and clinical studies.

"I just kept losing children to undiagnosed disorders and realized we needed to step up and if the medical community wasn't going to do it we would," said Parker.

The group and Braxton's family hopes the film will speed up a doctors' diagnosis in hopes of saving lives.

You can read more about Braxton's story on Braxton's Blog.


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