Marking Rare Disease Day, U of M researchers team up with affected families

March 01, 2019 06:47 PM

More than 50,000 people in Minnesota are affected by a rare disease, according to the National Institute of Health. 

While Rare Disease Day is actually held on the last day of February, the University of Minnesota also marked the day on Friday by working to find cures to rare diseases. 5 EYEWITNESS NEWS got a close-up look, Friday, at how affected families are teaming up with U of M researchers to improve and save lives.


The event was held at The Graduate Hotel, and co-hosted by the University of Minnesota Medical School’s Stem Cell Institute and the School of Pharmacy’s Center for Orphan Drug Research.

Sixteen-year-old Ava Barnett is already carving a future career path. When she was just 10 years old, one of her good friends lost his life to the rare disease ADL, which is a brain disease that destroys the protective layer around a brain's neurons that allows us to control our muscles. Barnett said, "I'm here at this event to explore further into genetics, I'm really interested in genetics, because it was a genetic disorder that he died of."

A rare disease is defined as a condition that affects fewer than 200,000 people. The University of Minnesota's event marking Rare Disease Day focused on gene therapies, which can lead to cures, and not just managing conditions. 

That's something that's important to Barnett: find a cure. She said through the loss of her childhood friend, she realized that she wanted to help others someday. "It affected me a lot, and I also saw how it affected his family, and I don't want anyone else to have to do the same thing," she said.

According to the U of M, half of the 50,000 Minnesotans living with a rare disease are children. One of those was Erica Barnes' daughter, Chloe.

Chloe lived just 26 months after being diagnosed with MLD, an inherited disease that affects the protective covering around nerve cells and causes a lack of muscle control. "For me, as her mom, she's indescribable; She was happy, she was funny," said Barnes. 

"But, sadly, who she was changed when she got sick," Barnes explained. As the co-founder of Chloe's Fight Rare Disease Foundation, she said, "I get to do this to honor her memory, and it's also really good policy."

Barnes and others are working alongside U of M's Dr. Paul Orchard, a pediatrician and bone marrow transplant physician, to get state lawmakers to pass the proposed Chloe Barnes Rare Disease Advisory Council Bill this session.

"The idea is to be able to help understand the scope of these diseases within better understand how we can serve the families...for a good number of them, the therapies are really insufficient," Barnes said.

Barnes added, "My dream is that the council, the stakeholders, will come together, and start solving some of those barriers." 

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Brandi Powell

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