Not Crazy: Families Facing Rare Disease Unite

People fighting rare diseases in the U.S. number in the millions.

ByABC News
February 26, 2010, 7:29 AM

Feb. 26, 2010— -- Dianne Gray, who lost her 14-year-old son, Austin, to a rare disease, says fighting an unresearched illness can be an isolating experience for families, and she's trying to do her part to make it easier.

In honor of Sunday's second-annual Rare Disease Day, Gray is speaking out about her family's experience in the hopes it will draw attention to the challenges of rare diseases and help families in similar situations.

Gray can remember the moment she realized something was very wrong with her son, although it would take years before a specialist could tell her what it was.

"When Austin Gray was 3, he walked into the hallway one night and said, 'Mommy I can't see you,'" said Gray, who lives in Naples, Fla.

Gray thought her little boy was just weary and confused. "Of course you can see Mommy," she reassured him.

"No Mama, where are you?"

Gray said it was "the oh my god, something is horribly wrong here," feeling.

"You just knew it."

Up until that point Austin had seemed completely normal. But then he started to fall down, and his eye sight weakened while none of the answers from doctors added up. Gray quickly realized that he was fighting a rare disease, a fight without a roadmap and without support.

The disease, eventually diagnosed as neurodegenerative brain iron accumulation disorders, slowly took over Austin's body, causing him severe pain and rendering him blind.

Gray volunteers with the National Organization for Rare Diseases to help other families. Sunday will be the second-annual National Rare Disease Day.

The description "rare" is often a misnomer -- although an individual might have a one in a million disease, there are some 7,000 recognized rare diseases.

Add that up, and rare diseases affect 30 million Americans, according to the National Institutes of Health. Yet families say they often feel isolated in a fight for treatment, support and diagnoses.

"You don't have a walk in your area, you don't have a support group unless it's on the Internet," said Gray.

The first time Gray saw a pediatrician about Austin's falls, she remembers the doctor saying, "Take him out of those Keds. You're an overreacting, first-time mother" as if Austin's falls had something to do with his footwear.

Later an eye specialist diagnosed Austin with retinitis pigmentosa and predicted he would go blind before he was an adult. But when Gray joined a parent group for the disease, she found that Austin did not have the same symptoms as those in the group.

"There were weird little bruises, bruises on the bottoms of her feet. The insides of her arm," said Smith.

Luckily, Smith's mother worked in the hematology lab at the medical college of Georgia. Smith asked the people at the lab to run full blood tests on her daughter and bingo.

Julia was 6 months old when she was diagnosed with Glanzmann's thrombasthenia. The family was again lucky, because down the hall from the grandmother's work was one of the few physicians in the country that had treated the disease at least once before.