Dad plans 100-mile run to raise awareness for daughter’s rare condition

A Chesterfield girl is only one of a few in the whole world with a rare genetic condition. In fact, she’s the only one with her specific condition.

Now, her dad is running 100 miles to try to raise awareness.

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Photo credit: Amy Fansler Photography


CURE Discovery: New Genetic Models of Epileptic Encephalopathies Deepen Our Understanding

Reduced activity of a gene called STXBP1 is one of the most common causes of epileptic encephalopathy (EE),1a group of severe pediatric epilepsies which includes Ohtahara Syndrome, West Syndrome, and Dravet Syndrome. Patients with EE often have aggressive, treatment-resistant seizures, developmental delays, behavioral deficits, and intellectual disability among other clinical features. There is an urgent need to better understand these syndromes and develop new therapies for them.

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Holly Springs mom runs 36.5 miles to raise money for Genetic Disorder research

On Thursday, Camden Jones will celebrate his first birthday, which is a more meaningful milestone in the face of his situation.

"I was just unwilling to accept it," Camden's mother Heather Jones recalled.

The "it" in this case was STXBP1, one of the world's most rare-genetic conditions.

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Richard Engel shares update on son, new research developments on Rett syndrome

Unless a cure is discovered for his rare and severe genetic disorder, Richard Engel’s son, Henry, will never be like other children his age.

It’s why his parents savor every small success.

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St. Louis Family Aims to Bring Kids with Rare STXBP1 Disorder Together at Disney

When Kyle and Emily Jones learned in 2015 that their daughter Piper, now three and a half, had a genetic mutation called STXBP1 that affects one in 29.6 million people, their lives changed completely. Suddenly they were facing not only doctors, therapists and long phone calls with insurance companies, but also trying to seize the day for Piper — which led to two trips to Disney World last year alone. 

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Photo credit: Kyle Jones

Parents who were told their little girl, 4, would never walk or talk due to a rare condition refused to give up

When doctors told Shane and Melissa Murray that their little girl would never walk, they were not discouraged.

They moved Evelyn's favourite toy up the stairs of their Brisbane home, inspiring her to climb one step at a time.

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Photo credit: Daily Mail