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Raising funds for a rare disease

Woman has neurodegenerative disorder called Friedreich's Ataxia

Posted: November 13, 2008 8:51 p.m.
Updated: November 14, 2008 4:55 a.m.

Stephanie Magness, 27, of Saugus suffers from a rare condition called Friedreich's Ataxia, an inherited disease that causes progressive damage to the nervous system.

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Three years ago, Stephanie Magness, now 27, watched the Muscular Dystrophy Association's annual telethon on television.

It got her thinking.

Four years ago, doctors diagnosed Magness with the rare neurodegenerative disorder known as Friedreich's Ataxia.

Although Magness was against fundraising because it put her in the public eye, watching the young girl on television discuss her fundraising efforts changed Magness' mind.

"I was thinking, ‘Gosh, if she could do it, then I could totally do it,'" Magness said.

Inspired by what she saw on television, Magness began planning fundraisers to help fight Friedreich's Ataxia.

Magness and her family organized various charity events from backyard dinners to silent auctions.

A little help from her friends
With help from friends and family, Magness created Stephanie's Hope Holiday Boutique, an annual event to raise money for the Friedreich's Ataxia Research Alliance.

"This is our third one and it's growing every year," she said.

A portion of all the proceeds from the raffle, bake sale and items sold at the boutique benefit the alliance, which strives to find treatment and a cure for the disorder.

Last year's profits topped $5,000, double the amount of money raised the first year. So far, the boutiques raised a total of $30,000.

This year, with more vendors, Magness hopes to raise about $8,000.

"I can never do this without anyone's help," she said about her 20 to 30 friends and family who pitch in every year. "They do so much. It's definitely not a one-person show."

Magness also credits Jesus Christ and the Christian faith as the foundations in her life, which give her the strength to battle F.A.

Along with raising money, Magness, who is currently an online psychology student at Regent University in Virginia, enjoys raising awareness and plans to have an F.A. information table at Saturday's boutique.

"I really like it because for me, it's more about awareness," she said. "If I didn't have (Friedreich's Ataxia), I wouldn't know what it was."

Stephanie's mother, Sharon, is proud of her daughter's efforts.

"What she's doing is incredible," she said. "Not everybody can do this because you put yourself out there."

The diagnosis
Magness' battle with Friedreich's Ataxia began with a diagnosis of scoliosis in seventh grade.

Magness remembered when her doctor saw her spine.

"When she noticed it, it was so severe that it was kind of like an S shape," she said. "They knew that something was up to make it appear so suddenly."

But doctors misdiagnosed her with Charcot-Marie-Tooth, a disease similar to Friedreich's Ataxia.

Symptoms included problems with balance, coordination, walking and reflexes.

Up until 10 years ago, Magness' diagnosis remained the same until her parents noticed a progression in her condition.

"I would stumble around and fall and trip," she said. "So it kept getting worse and worse and worse."

In 2004, at the age of 23, Magness received news that she has Friedreich's Ataxia, a disorder that has no cure and no treatment.

The disorder progressed so much that she now requires a wheelchair and can no longer drive.

"When I hit 19 to 24, it was really noticeable," she said. "Just the progression was very significant."

However, Magness remains hopeful as she has not had a significant progression in symptoms in the last couple of years.

"My neurologist believes that I've reached a plateau," she said.

Much like her daughter, Sharon is hopeful.

"Our message is a message of hope," she said. "If you pursue a goal, you can reach it. We do want to see a cure and treatment in Stephanie's lifetime."

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