Diagnosis gives rare disease sufferer new lease on life


Billie Helton sits by a photo of her brother Andrew, who died of complications of Alstrom Syndrome.

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Published: Friday, March 1, 2013 at 4:29 p.m.
Last Modified: Friday, March 1, 2013 at 4:29 p.m.

Billie “BJ” Helton and her older brother Andrew did everything together: They dressed alike to convince people they were twins, even though he was 15 months older.

As they grew up, their personalities distinguished them: He was an extrovert and went repelling; she read science fiction late into the night.

Ask BJ what she and her brother did together, and she’s quick to say, “Everything but die.”

Andrew died in 2010 waiting for a heart transplant -- something his sister in September received, along with a lung transplant.

“They were best friends,” their mother, Mary Register, said. “He told her that he was just pioneering for her.”

Both siblings shared something no one else in their family had -- and that only 800 people in the world are known to have: a rare genetic disease called Alstrom Syndrome, which causes organ dysfunction that often leads to diabetes and obesity, deafness and blindness.

Both BJ and Andrew were legally blind and obese by the time they started school at the Tennessee School of the Blind. Then BJ’s hearing started to go.

“I had to repeat the first grade because I couldn’t hear anything,” she said.

“[The doctors] just couldn’t put it together,” Register said.

It wasn’t until BJ and Andrew were in their late teens -- by then at the Florida School for the Deaf and Blind in St. Augustine -- that doctors at the University of Florida unraveled the lifelong trail of their symptoms.

“In a way, it made things easier. It made sense,” BJ said about receiving her diagnosis. “But you still have to treat each problem,” she continued.

“Like a book with chapters. Every chapter goes together, but you wouldn’t read two at the same time.”

And so each organ affected by her condition has been treated as a stand-alone problem in the puzzle of a disease that has no cure.

BJ’s heart and lung transplant in September offered a new lease on life. At 30, she is just beginning to enjoy things that most people take for granted, such as being able to walk a mile instead of having to stop every two minutes for breath. She also has lost a lot of weight.

“I’ve got a lot more energy,” she said, adding, “It’s a little disconcerting sometimes, when people say, ‘You’re normal.’” BJ said she feels like replying: “Do you want to explain what you mean by that term?”

For now, BJ’s normal means pursuing her master’s degree in Christian counseling (she already has a degree in psychology).

“When I put together all that I’ve been through, maybe it can benefit someone else,” she said.

Contact Kristine Crane at 338-3119, or kristine.crane@gvillesun.com.

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