Rare disease clinic helps families find answers - WAOW - Newsline 9, Wausau News, Weather, Sports

Rare disease clinic helps families find answers


A new central Wisconsin clinic is helping families battle a rare disease. It's the first of its kind in the country and only the second in the world.

Lucy Pothier looks like your average seven year old. She likes to color, "blue is my favorite color, I love all the blues in the world," explained Lucy. She also has a favorite food, "mac and cheese and peanut butter and jelly," she said with a smile. But unlike most children her age, Lucy suffers from a rare genetic disorder. It's called Bardet-Biedl Syndrome. It's a disease that affects numerous parts of the body, including vision, kidneys and motor skills.

"They can't get their care at home facilities because many times people, doctors, don't even know what their condition is," explained Dr. Robert Haws, a nephrologist at Marshfield Clinic. Dr. Haws started the BBS program. For three days, families like Lucy's come to Marshfield to get the support and care needed to fight such a complicated disease.

"It's the greatest joy in my life to see these kids coming here getting great care, and leaving here with a better understanding at what they can do at home," said Dr. Haws.

The Pothier's traveled all the way from Arizona. During the past week, this family has met with dozens of doctors, with the goal of leaving with a new treatment plan.

"It's hard to even conceptualize what this means to a family like ours, we need this," said Lucy's Mother, Shawni Pothier.

But the clinic is more than just doctors appointments or the poking and prodding needed to help. It's about meeting others, sharing stories, and talking with those who know exactly what they're going through.

"To meet kids that she can relate to, it really helps her know there are other kids like her and for her to meet them, it helps a lot," explained Pothier.

So as Lucy grows older she'll keep coloring, keep learning, keep fighting through her disease. This clinic is a big step in making that possible.

Less than 2,500 people in U.S. Have been diagnosed with BBS. Dr. Haws says right now the clinic runs every two or three months but he's hoping to make it a monthly program.

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