Parents of Vivienne Redick search for cure as young girl fights rare disorder frequently misdiagnosed as autism

LOS ANGELES — A rare, genetic disorder that’s often misdiagnosed as autism is robbing a young California girl of her life.

With no known treatment or cure, her parents are tackling an impossible dream: finding a cure and hopefully help others along the way.

The story of Vivienne Redick

As an infant, 2-year-old Vivienne Redick’s gaze offered a clue her parents couldn’t interpret.

“She did this little stare, and I didn’t know that was a seizure. It was so quick,” said Vivienne’s mom, Yvette Yates Redick.

Vivienne is Yvette and Shaun Redick’s third child. Her pregnancy and birth were healthy and routine.

“She is a happy baby,” said Yvette.

Vivienne’s mother initially didn’t notice anything unusual about her development until Vivienne was approximately eight months old, and she suddenly had a high fever. It was at this point that Vivienne’s pediatrician observed her having seizures, raising concerns about her health.

Extensive testing was conducted, leading to the discovery that Vivienne was suffering from a rare and progressive genetic condition known as BPAN, which is short for Beta-propeller protein-associated neurodegeneration. This diagnosis shed light on the underlying cause of Vivienne’s symptoms and provided her family with a clearer understanding of her condition.

Time is not on Vivienne’s side.

“Mostly girls are affected. It’s progressive, and it gets worse with time. They don’t have a long, life span,” said Yvette.

What is BPAN?

BPAN was first identified in 2012. Back then, there were about 100 known cases. Now, scientists estimate there are about 750 worldwide.

BPAN is not inherited. It’s a genetic mutation on the X chromosome that can happen randomly. With so few cases, there is no known treatment nor cure.

“So many told me, ‘It’s not even in our system, we don’t know about this. We can’t help you,'” said Yvette.

As Hollywood filmmakers, the Redicks are doing what they know best. They’re reaching out, networking and getting their daughter’s story out there.

The couple has even created a public service announcement.

“Our world changed dramatically when Vivienne was diagnosed with a rare genetic disease,” said Shaun Redick in the PSA.

They found hope at the world’s first BPAN clinic at Children’s Hospital of Philadelphia.

Scientists are working on a novel way to penetrate and transport DNA information into brain cells.

Dr. Laura Adang from CHOP explained the significance of capsids in delivering genetic information into cells. She emphasized the research interest and advancements in developing new or modified versions of these capsids at CHOP, highlighting the potential for innovative approaches to treating various conditions.

“I think their proposal is for five years, and it’s about $2 million per year, so it’s not inexpensive,” said Yvette.

The couple is working with BeatBPAN.org to fund this research.

An impossible dream, but one the Vivienne’s family believes is within reach.

“I’m excited about the potential. You know, there could be a cure. You could, like, live a long life, maybe? I don’t know, and I’d want that for her,” said Vivienne’s mother.

Vivienne is learning and progressing, but BPAN patients often peak in their teen years and then decline.

The disorder is often misdiagnosed as autism, and researchers estimate there may be thousands in the U.S. with BPAN and don’t know it. The Redicks hope with your help, they can help Vivienne and many like her.

“I want her with us. Everyone’s belief that they can help, it means a lot,” said Yvette.