Group Seeks Awareness for Deadly Disease

Ataxia has no cure and is often misdiagnosed

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HealthDay Reporter

TUESDAY, Sept. 24, 2002 (HealthDayNews) -- For years, doctors have misdiagnosed ataxia as multiple sclerosis or other illnesses, preventing this rare but deadly congenital disease from getting the attention and research it deserved.

But over the last 10 years, scientists have identified 15 strains of ataxia, which affect an estimated 150,000 Americans. To find a treatment and cure for the disease, though, advocates say much more research has to be done. So to raise money and attention for the cause, the National Ataxia Foundation is sponsoring International Ataxia Awareness Day tomorrow, Sept. 25.

Ataxia can strike anyone at any time, says Donna Gruetzmacher, the foundation's executive director. Many times, people do not know they carry an ataxia gene until they have children displaying signs of ataxia.

The disease acts by killing off cells in the cerebellum section of the brain and spinal cord, which limits the brain's ability to communicate with the body. At first, it affects balance, coordination and speech -- hence the misdiagnosis of multiple sclerosis -- but it eventually damages the heart, sight and hearing. It also leaves its victims prone to infections and leukemia.

As a congenital disease, ataxia can strike every other child in some families. However, it also appears sporadically. Some strains attack children and young adults, while others more commonly affect older people.

"There are some medications, and nutrition and exercise are important. But there is no silver bullet that can cure it," says Michael Parent, the foundation's director of development. "The bottom line is money. The more money we can spend funding research, the better chance we will have of beating this."

During Ataxia Awareness Day, in its third year, families will burn blue or white candles for loved ones who are stricken with the disease or have died from it. They also hold local fund-raisers to help pay for future research projects by the foundation. In just the last three years, using money from the fund-raisers and other donations, the foundation has paid for 37 research projects in six countries.

One research project by Columbia University last year showed that a vitamin supplement that helps produce energy within cells is a promising treatment for ataxia. In one case, a wheelchair-bound patient walked again with some assistance after treatment, and a woman was able to work outside her home for the first time.

One of the most progressive forms of ataxia that generally attacks children is ataxia telangiectasia, or AT. About one in 40,000 children is born with the illness, and they generally don't live to adulthood.

"The kids are usually in wheelchairs by age 10, and then it's often fatal by the early teens. It's a terribly tragic disease," says Jennifer Thornton, executive director of the AT Children's Project. "It's very hard on families."

The strain of ataxia is also passed from one generation to the next. But by the time a child is 18 months to 3 years old, parents usually notice something is wrong with their motor skills. It's at that point when families need support and a proper diagnosis of the illness, she says.

"We're funding research into many, many areas right now. We're leaving no stones unturned. Hopefully, the advances in medical research and our own work will lead us to a cure," Thornton says. "We certainly support the National Ataxia Foundation in its efforts to increase awareness."

What To Do

To learn more about International Ataxia Day, visit the National Ataxia Foundation, which also has a map of local support groups. Meanwhile, the National Institute of Neurological Disorders and Stroke has more on ataxia telangiectasia.

SOURCES: Michael Parent, director, development, National Ataxia Foundation, Minneapolis; Donna Gruetzmacher, executive director, National Ataxia Foundation, Minneapolis; Jennifer Thornton, executive director, AT Children's Project, Deerfield Beach, Fla.

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