As body slips away, fighting not to let hope follow

Haymarket mother working to save research on daughter's rare disorder

Nov. 27, 2007: It's a day Haymarket residents Rich and Sandy Leap will never forget because it marked the first time they heard their daughter's voice in almost a year.

It also was the last.

Suffering from a rare neurological disorder, Brittany Leap has lost her ability to speak, walk and swallow. A brain operation had brought a glimmer of hope to the couple that November day, but it quickly faded, leaving them desperate for any medical breakthrough that could help their daughter.

"I was home putting away dishes, and I hear 'Mommy, can I help you?' " Sandy Leap said, choking up. "It was hard because we were almost forgetting what she sounded like. I recorded it, though, and called [my husband], and she left a message on his phone. Now whenever we think we are forgetting her voice, we go back to" the recordings.

Brittany, 14, suffers from neurodegeneration with brain iron accumulation, a rare, inherited movement disorder characterized by the progressive degeneration of the nervous system, according to the National Institute of Neurological Disorders and Stroke. There is no recognized treatment or cure for the disease, and Leap said families affected by it worry there might never be: Funding for one of NBIA's handful of researchers has begun to dwindle.

"I'm a desperate mom just trying to find a cure for her daughter," Leap said. "I'm hoping there is a cure in time for my daughter, but if not, I hope it is in time for someone else's daughter."

Leap and members of the NBIA Disorders Association are trying to raise awareness and funds for Susan Hayflick's lab at Oregon Health and Science University, which is on the verge of closing as donations have declined in the dismal economy and grants have stagnated.

"If my lab goes away, the progress of advancing this disease will come to a halt," said Hayflick, who opened the lab 17 years ago. "We're a poster child of what is going on nationally. There is a crisis in [National Institutes of Health] funding, and we are being hit by it like others in biomedical research."

According to NIH officials, federal funding to NIH has been fairly level over the last few years, hovering around $28 billion for fiscal 2007 and 2008. In fiscal 2009, which ended Sept. 30, NIH received about $30.4 billion. NIH also got $10.4 billion in stimulus funds to spend over the next two years, though it's unclear how much of that will go to rare disease research.

Steve Groft, director of the office of rare disease research, said his department's budget was about $16 million in 2009. That, however, doesn't adequately reflect how much is spent on rare disease research because each of NIH's 27 institutes and centers contributes funds to further study the roughly 6,500 rare disorders found across the country.

"I don't think my situation is unusual, but what's different with us is if you lose 10 percent of cancer researchers, you still have a substantial research community," Hayflick said. "Most rare disorders only have a few scientists, so to lose any one of those can completely bring to a halt the scientific progress."

Brittany is one of about 200 people in the United States who suffer from NBIA. Early in her childhood, Brittany was a little clumsy and awkward, Sandy Leap said. She and her husband knew something wasn't right, but doctor after doctor told them not to worry. Finally, when Brittany was 10 years old, the staff at Children's National Medical Center diagnosed her disease, which has slowly caused her to lose her ability to walk, eat and talk.