Not Crazy: Families Facing Rare Disease Unite

Austin slowly lost the use of his right arm, then his left arm. He lost the ability to speak, and started communicating with blinks and smiles.

"He stopped being able to go to school because he got stiff as a board," said Gray.

Aside from the social isolation, Gray said it was difficult working with doctors who had no idea how to treat her son, or even the best way to soothe his symptoms. Gray said sometimes doctors believed Austin was going to die. But he survived, although he stayed bed bound from age 9 to14.

Austin died Feb. 25, 2005.

Although she could logically understand it, Gray said it was hard to really believe that her son had something that affected one in a million people.

"You can't believe that you're really one in a million," she said.

Gray's disbelief is one Stefanie Putkowski, a registered nurse at National Organization for Rare Disorders, hears every day.

"We still hear from people it's taken them six or seven years to get a diagnosis," said Putkowski. "Often they hear that it is maybe in their head, that they need counseling."

NORD serves as a liaison for researchers studying and families coping with rare diseases. The label "rare disease" means fewer than 200,000 Americans have the disease, which makes it difficult to get research dollars and difficult for doctors to corral enough subjects to study.

Rare Diseases Are Rarely Researched

"There's not a lot of research being done. It's terrible to tell them nobody is doing anything," said Mary Dunkle, vice president of communications at NORD.

Because there is lilttle research into these diseases, most of them do not have a drug that is approved specifically to treat them.

Recently, Putkowski and Dunkle said there has been a small bit of hope. In 2008, the National Institutes of Health opened an undiagnosed diseases program.

"They get about 20 different physicians together representing a variety of medical specialty areas," said Dunkle. "As a team they try to figure out what's going on with the patient."

However, the program only takes a few hundred patients a year, and Putkowski says she receives calls from that many interested persons in a month.

Another operation of NORD is to help families set up nonprofit foundations to raise funds and then connect the foundations with venerable researchers who could get a return on their investment.

Such programs helped Helen Smit, of Augusta, Ga., work with other families to raise more than $300,000 for research into her daughter's rare disease -- Glanzmann's thrombasthenia.

"Hours after she was born we knew something was wrong with her. She was covered in bruises from head to toe," Smith said of her daughter Julia, now 11.

"They did the normal blood tests on her, and nothing came back," she said.

Smith went through some frightening experiences with her daughter's blood clotting condition before it was diagnosed. If Julia bled, she could not stop bleeding. She also bruised everywhere as she moved.

Julia Smith, 11, is pictured with her mother Helen Smith. Julia Smith was diagnosed with the rare blood disorder Glanzmann's Thrombasthenia when she was 6-months-old.

"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.

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