One in 7 billion: Documentary to focus on girl with rare condition

But her doctors had no idea what her condition was and told her parents, Hugh and Lisa, that no one in the world may know.

But Hugh felt like the doctors were giving him the runaround and he has a low tolerance for the runaround.

So, the San Carlos doctor and geneticist decided to figure it out himself.

And he did.

The family’s story will now be the subject of a documentary about the “unbreakable bond between father and daughter,” said filmmaker Kori Feener.

Feener plans to document Bea’s life over the next two years and is seeking $35,000 in funding through a Kickstarter campaign to get the project off the ground.

So far, 228 individuals have donated a total of $30,399 to the campaign as of Wednesday.

Feener wants the finished product to be an inspiring coming-of-age film about growing up with a rare disease and the importance of family advocacy.

The Kickstarter campaign ends Saturday, Feb. 28, which happens to be Rare Disease Day.

Feener points out that up to 30 million Americans have a rare disease, which is defined as a condition shared by less than 200,000 people.

Bea’s father spent seven years of his life, with the help of doctors at Johns Hopkins University, devoted to finding the cause of her condition which causes her eyes to be spaced wider than usual and her leg muscles weak. It also makes her unable to really gain weight.

Her father’s work led to the discovery of a gene mutation in her DNA that no one else in the world has, at least not yet.

She wears special shoes and leg braces to walk but it doesn’t stop her from playing her favorite sport — basketball.

She’s a tomboy who also likes to play the violin and ride scooter.

Her name is Bea and she has Rienhoff Syndrome.

“There are 7 billion people in the world so there is a chance someone else has it,” Hugh said.

Bea may be one in 7 billion but, considering the low number of individuals in the world who are doctors and geneticists, the odds that she would be born to someone with her father’s set of skills are greater than one in 350 trillion.

There is likely no other family in the world who share this unique relationship.

Although she lives life like most other girls her age, her condition can lead to its own unique experiences such as meeting President Obama.

Obama invited the family to the White House as part of his precision medicine initiative he announced during his State of the Union address.

Hugh’s work in identifying the variant responsible for his daughter’s condition has led to research using precision medicine to further study genetic variation and Rienhoff Syndrome.

Scientists at the University of Arizona are now studying mice with Bea’s genetic makeup.

“We’re not looking for a cure,” Hugh said. “We just want to understand how the gene works and get a deeper understanding of what might happen.”

The condition does not appear to be degenerative, he said, but the long-term effects of Rienhoff Syndrome remain an unknown.

Learn more about the Kickstarter campaign at www.kickstarter.com/projects/628286646/bea-a-documentary-film.

bill@smdailyjournal.com

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