May 12, 2016 4 min read

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Audrey Wipperman plays with her dog, Franklin, outside her family’s home in Venetia. Wipperman, 16, has Wolfram syndrome, a very rare genetic disease that includes diabetes and vision loss.

Katie Roupe/Observer-Reporter

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Audrey Wipperman enjoys playing with her dog, Franklin.

Katie Roupe/Observer-Reporter

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Kickline Dance Center instructor Christy Trotnick, left, runs through a routine with Audrey Wipperman. Wipperman has studied at Kickline for nine years.

Katie Roupe/Observer-Reporter

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Audrey Wipperman practices her tap dance routine.

Katie Roupe/Observer-Reporter

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Audrey Wipperman practices her tap dance routine with dance instructor Christy Trotnick at Kickline Dance Center. Wipperman has Wolfram syndrome but remains active in dance.

Katie Roupe/Observer-Reporter

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Once a year, Audrey Wipperman spends time with people who share similar experiences.

“I get to be with people who know exactly what I’m going through. They kind of just understand,” said the Peters Township High School junior. “We can joke because we know no one is going to get offended because they have it, too.”

One of Audrey’s cohorts, a woman in her early 30s, has completely lost her vision.

“She’s always cracking seeing jokes,” Audrey said. “It’s cool.”

Audrey, 16, and patients from all over the world gather in St. Louis, Mo., as part of a research study on Wolfram syndrome, a rare genetic disease.

To emphasise the rarity of Wolfram, specialist Dr. Fumihiko Urano compared it to Lou Gehrig’s disease – also very rare.

One in 200,000 people is diagnosed with Lou Gehrig’s, or ALS. With Wolfram, that number decreases to one in 500,000.

“It is ultra-rare,” Urano said of Wolfram, a mutation of the DNA characterized by juvenile-onset – or Type 1 – diabetes, vision problems and neurodegeneration, or the decline of brain function.

While the number of people who have Wolfram is small, those who do and their loved ones face a lot of unknowns. For that reason, the physician, one of the few to specialize in the genetic disorder, created a registry of patients and conducted a long-term study of the progression of the disease. Urano is also trying to fund a clinical trial to get Food and Drug Administration approval for medications that could slow the disease’s progression.

“There’s such fear in not knowing what’s happening,” said Audrey’s mom, Gina Wipperman, who quickly got Audrey involved in the registry, where she met Urano.

Urano explained that the two parts of the brain affected by Wolfram are breathing and balance. While there is no cure for Wolfram, Urano is confident further research will at least reveal a medication to slow the disease’s progression. Those with Wolfram have an average life expectancy of about 30 years.

As in most cases of Wolfram, the first indicator for Audrey was a diagnosis of diabetes, which she received when she was 6 years old.

Then, Audrey’s vision began to decline. After seeing many eye doctors and specialists, Audrey was diagnosed with Wolfram at 10 years old, in the midst of a move from Nashville, Tenn., to Venetia, with her mother, father and older sister, Erin.

“She was too old to just say, ‘Let’s just make this a part of her life,’ and too young to really understand,” said Gina Wipperman. “A counselor told us to just give her what she needs. So that’s what we did.”

After some ups and downs, Audrey is able to maintain her health, checking her blood sugar levels several times a day and managing it with insulin injections. She regularly has doctor appointments, but, as she said, it’s something she’s used to.

Because glasses and contacts can’t completely correct her vision, Audrey reads from larger print and sits closer to the front of classrooms. She can’t drive a car, which, she said, is annoying, but not that bad.

“I’m not that sad about it. It’s just like, ‘Oh my gosh. Stop talking about it,'” she said of her friends. “But they don’t treat me any different.”

A dancer who likes to write and travel, Audrey’s ultimate goal is to go away to college, a prospect that makes her mother nervous.

“My biggest issue is (her) navigating the campus, crossing the street,” said Gina.

But Audrey doesn’t fear the future.

“Even though I don’t know what I’ll be able to do, I really don’t get scared,” she said.

Gina Wipperman is working with the Snow Foundation to crowdfund a clinical trial for Wolfram medications.

“Because there is no treatment, the Snow Foundation is raising funds to make it happen,” Urano said. “It’s difficult to raise funds and get grants for rare diseases in general. But by studying rare diseases, we may be able to find cures for more common ones, like diabetes.”

For information, visit http://wolframsyndrome.dom.wustl.edu and www.thesnowfoundation.org.