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East Grand Forks woman with rare disorder takes life ‘day by day’

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East Grand Forks woman with rare disorder takes life ‘day by day’
Jamestown North Dakota 121 3rd St NW 58401

EAST GRAND FORKS, Minn. — Wendy Nelson was in fifth grade in Newfolden when her teachers began to notice “little things” — slurred speech, unclear handwriting, loss of coordination — that raised concerns.

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Nelson, now 39, was referred to a neurologist, a physician who specializes in disorders of the brain and nervous system, in Grand Forks, N.D.

After being diagnosed with “spinal cerebral degeneration,” she sought a second opinion from doctors at the Mayo Clinic in Rochester, who “came up with the same thing,” she said. “They said I’d be in a wheelchair at 21.”

They “didn’t really recommend anything for me,” and no treatment was suggested.

There are no medications to treat this condition, she said. 

At Newfolden’s high school graduation in 1992, with help from her older sister, she walked across the stage to accept her diploma.

“I was a little uneasy,” she said, “but I did it.” She started using a wheelchair after that and moved to East Grand Forks, where she has lived ever since.

Accurate diagnosis

Nelson didn’t receive a more exact diagnosis until the late 1990s, when her family began to see similarities between her condition and that of a cousin in Texas. Jared Digby was diagnosed with ataxia-telangiectasia as a child. In 2010, he succumbed to the disease at age 29.

“I had a lot of the same symptoms that he had,” she said.

Jared’s mother suggested she go to Johns Hopkins University, a renowned research center for this type of illness.

In 1999, doctors there told Nelson she probably had A-T, a rare inherited disorder that causes progressive loss of muscle control, immune system problems and a high rate of cancer. At the time, she couldn’t afford a critical blood test to confirm the diagnosis. She was officially diagnosed about five years ago by doctors at the University of Minnesota.

To her knowledge, she is the oldest person with the disease. At Johns Hopkins, “they’d never really seen an adult with A-T,” she said. “They’re more used to working with kids.”

Life expectancy varies for people with A-T. Children who have it are usually confined to a wheelchair at age 10 and often don’t survive their teens.  

Also known as Louis-Bar syndrome, A-T occurs in one in 40,000 to 100,000 people worldwide and is the result of a mutation in a specific gene that helps control cell division and is involved in DNA repair. Without the ability to efficiently repair damaged DNA strands, cells become unstable and die.

Understanding why brain cells die in A-T could provide insight into why they die in other neurodegenerative diseases like Alzheimer’s, researchers say.

Symptoms

A-T is characterized by progressive difficulty with coordinating movement, beginning in early childhood. Affected children typically develop difficulty walking, problems with balance and hand coordination, involuntary jerking movements, muscle twitches and disturbances in nerve function, known as neuropathy.

People with A-T have a weakened immune system, and many develop chronic lung infections. They have an increased risk of developing cancer, particularly cancer of blood-forming cells (leukemia) and cancer of immune system cells (lymphoma). They also have slurred speech, trouble moving their eyes to look side-to-side and problems swallowing.

“If I put my head back too far, I choke,” she said, so she uses a straw. “Stuff like that you learn to adapt to.”

She has “good days and bad days,” she said, and takes life “day by day.”

The little things are most frustrating, she said. “You know how to do it, but the signal — the connection from the mind to the limbs — isn’t there to actually do it.” 

Daily struggle

The disease “keeps taking and taking physical abilities from me,” she said. “It’s a daily struggle just to take care of myself.” She’s lost the ability to walk, drive, write and see well.

“My handwriting is a lot worse than it was, and my vision isn’t the greatest.” Her fingers are curled, but she can grasp utensils and dishes to make her own meals.

“If I fall out of my wheelchair, I can’t get back into it by myself; I have to call for help,” she said. “That hasn’t happened for a long time.”

She has “learned to cope,” she said. An adaptive telephone and other tools and equipment help her function better and accomplish tasks. A friend gave her bull-nosed pliers to tie knots in strips on the borders of more than a dozen fleece blankets that she’s made and given to family and friends.

“Every case is different,” she said. “In my case, (the disease) bypassed all my internal organs.” Her immune system is not compromised, but bladder function has deteriorated.

Because her genes “are slightly less damaged than those of most young people with A-T, I didn’t get the full effect of the disease,” she said.

“I’ve lived on my own for 20 years,” she said. “I’ve defied a lot of what the doctors told me.”

Independent spirit 

In her downtown apartment, “I’m comfortable with everything around me,” she said. “I do have help. I’m very independent.” 

Four days a week, an aide comes in to wash the floors, vacuum and do laundry, “things that gradually get difficult to do,” she said. The help is “more than enough.”

“I feel I have to prove to people I can do this on my own. If I had 24-hour constant care, I would go crazy.” 

She doesn’t let the disease isolate her, she said. She shops for groceries and other items and, almost weekly, takes in a movie.

“I’m a sap for love (stories) and comedies.”

Nelson doesn’t have a job but wishes she could work, she said. “Employers I’ve talked with want speed, and speed isn’t something I have.’ 

Some people have suggested she get a motorized wheelchair, but “I can use my arms,” she said. “I want to use them while I still can.”

To some degree, it frustrates her to not know how or when the disease will progress, she said. “Doctors have asked, ‘Do you really want to know?’ “ She suspects they can’t give her answers because “I don’t think they really know.” 

Marathon

Nelson remembers the day she heard about her cousin Jared’s death.

“When his mom called, it really hit home,” she said. “After someone passes away from this, you kind of want to get more involved.”

She’s looking forward to participating, in Jared’s memory, for the first time in the annual A-T Children’s Project race as part of the Walt Disney World Marathon in January in Florida, she said. Jared’s sister, Dana Digby, plans to push Nelson’s wheelchair the entire 26-mile route.

Through www.atcp. org/wendy, she is raising money in connection with the event, which will be used for research to find a cure or life-improving therapies.

“I couldn’t go if I didn’t have someone going with me. I’m grateful. We’ll have fun.”

The marathon will be long, she said, “but it’ll be worth it.”

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