Not Crazy: Families Facing Rare Disease Unite

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

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.

Struggling to Find a Diagnosis

"We spoke to other parents who had retinitis pigmentosa, and they said, 'Our kids don't fall down like that,'" Gray recalled.

It took nearly five years of spinal taps, scans and multiple doctor visits before anyone could give Gray an answer. Then Gray's neurologists helped the family get an appointment with a renowned French pediatric neurologist Dr. Jean Aicardi when he came to the United States.

Aicardi diagnosed Austin with neurodegenerative brain iron accumulation disorders, which he predicted would eventually kill Gray's little boy.

But neither Gray nor the doctors knew when. The disorder slowly took over Austin's ability to move, and as it encroached on his body he experienced severe pain. He also experienced dystonia -- involuntary muscle contraction -- which was so bad doctors suggested cutting out his tongue to save him the pain from biting it involuntarily.

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.

"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.

Fighting for Treatment, and a Diagnosis

Smith has heard of one other person in the state of Georgia -- an adult -- with Julia's disorder.

The bad news was the limitations on Julia's life. Doctors told Smith that her daughter could never have children, could not play contact sports and couldn't do slightly risky activities such as skiing.

"In my head, I was thinking, 'Oh this is something I could deal with,'" said Smith.

But then Smith started dealing with some injuries -- a black eye from a fall swelled so much that the doctor warned Smith to watch it, lest Julia's retina's detached.

Smith also got accusatory looks and comments from strangers who assumed the bruises all over Julia's body were the result of child abuse. Eventually the family began carrying letters from their doctor and attorney in case the police were called to take away Julia.

But Smith said the most stressful events are the life threatening nosebleeds.

One morning when Julia was 7 months old, Smith went to pick her up.

"Her nose started bleeding in the night, and I went to get her in the morning. It looked like someone was butchered in there. Her hair was matted with blood. Her clothes were covered, her mouth was filled with blood. Her eyelids were sealed with dried blood," said Smith.

Julia has survived, and Smith says the time she spent networking and building an informational center at has paid off.

Money sent to a researcher, Dr. David Wilcox at the Medical College of Wisconsin, assisted his grant from the National Institutes of Health.

"He has actually corrected GT in the lab through gene manipulation," said Smith. "He has applied it to hemophilia, and it corrects hemophilia."

Next week, Smith's family will start participating in a clinical trial for a treatment for Julia's condition.

"Our whole family is getting our blood drawn and shipping it off on Monday," said Smith.

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