Victims of rare disease remain positive despite daily challenges

It’s frightening when your body doesn’t do what your brain tells it to, but that’s exactly what happens when you have ataxia, a rare disease that affects about 150,000 Americans.

I had never heard of ataxia until a couple of weeks ago when a high-school friend sent purple wristbands proclaiming “Ataxia Awareness.” I knew she had been ill, but I didn’t know the cause.

Ataxia affects balance, coordination, speech and eventually damages the heart, sight and hearing. Symptoms progress over a 10- to 20-year period and leave victims susceptible to infections and leukemia.

There is no treatment. There is no cure. The disease can be hereditary or it can hit you for no reason. That’s what happened to my friend, Debbie Horton of Antioch.

“I was diagnosed in 1998 after originally being dizzy — like bed spins without the alcohol — for about five months before. After eyes and ears yielded nothing, I went for an MRI and lo and behold, I got this news,” Debbie told me via e-mail. She types well, but she knows eventually that skill also will diminish.

She had bad headaches for about a year and then the tremors started. She had trouble walking and talking.

“I would just suddenly start shaking in the arms and release stuff willy-nilly,” she said. “My eyes overshoot and then return to where they should be so it took longer to read. I began to use a cane to walk about 2000 and other than progression of the tremors and the eye thing, things were OK for a couple of years.”

Debbie went from a cane to forearm crutches for a couple of years because she needed the stability. Then she moved to a walker-rollator.

“I thought a wheelchair was the worst,” she said. “I had to quit working in March 2004 because I couldn’t get around, which stinks because this disease isn’t mental at all — although you think so much about staying upright and not falling, you don’t think about stuff like you used to.

“And short-term memory is gone. In spring 2005 I began to use a wheelchair when I go out, But use the rollator in my apartment. I can’t bend my legs like regular and gag when things like toothpaste are put in my mouth. I can’t chew well for a long time, and things like gum and hard candy are out. Your epiglottis doesn’t close so you aspirate and choke on water and saliva and sleep face down to prevent choking during the night and your tongue is a hazard for choking. Epiglottis normally keeps the stuff you swallow from going in your lungs so pneumonia is a big threat.

“I’m OK with this, but in the beginning everyone has a hard time and cries a lot.”

Kevin Donnelli of Rockford has been part of a local ataxia support group for four years. Donnelli’s ataxia is hereditary, but he doesn’t let the disease get him down.

“I could be lonely and depressed, but what’s the point? That’s not going to be productive,” he told me Monday. He’s frustrated by people’s lack of knowledge.

“People don’t understand. People fear what they don’t know,” he said. “People are going to be saying look at that guy, he’s hammered. I say I’m not hammered, I have a disability. It’s called ataxia. You can look it up on the Internet. They’ve never heard of it so they think you’re lying. “If I had a friend who was blind, people could accept that because they know what that is. They don’t know about ataxia.”

The disease affects Donnelli’s ability to walk, and he slightly slurs his words when he speaks, but he’s able to drive and hold down a job. Donnelli said as many as 12 people have attended support group meetings, but usually it’s two. People talk about current events, about what’s on their minds. Meetings can be at the library or a local restaurant.

Mike Parent, executive director of the National Ataxia Foundation, said it’s important to get involved in a support system. He also said it’s important to spread information.

“There are probably more than 6,000 rare diseases and we’re all trying to inform the public about our particular diseases,” Parent said. “A lot of times if you don’t have a family member, a friend or someone you know with the disease, it doesn’t hit home.”

The disease has hit too close to home.

“I cope by ignoring the future,” Debbie said. “It ain’t pretty. My reality is the now, and I’m busy with that. It took many years, but I learned that it is better to force yourself to be positive.”

Sunday is national Ataxia Awareness Day. My family and I will wear those purple wristbands.