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New program helps families battle rare disease

A new Marshfield Clinic program is helping families battle an extremely rare disease. The program is the first of its kind in the country and only the second in the world.

This rare genetic disorder is called Bardet-Biedl Syndrome. BBS is a rare genetic disorder and is most often diagnosed in children. Scientists believe BBS is caused by a mutation, or change, in one or more of 14 genes inherited from a patient's parents. Symptoms include a gradual loss of sight from degradation of the eye, obesity, kidney abnormalities, extra fingers or toes, and mental development issues.

The vast array of potential medical problems BBS patients face made Marshfield Clinic an ideal location for a BBS clinic.

"We bring in Ophthalmology, Nephrology, Behavioral Health, Neuropsychology and Physical Therapy. Our diversity allows us to tailor the experience for each patient," said Dr. Robert Haws, a Marshfield Clinic nephrologist." Providing unified care is a national model for how to treat other diseases."

BBS families can't get their care at their home facilities because many times their local doctors don't even know what their condition is, Dr. Haws said. Less than 2,500 people in the United States have been diagnosed with BBS.

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

The first Marshfield Clinic BBS Clinic last July was attended by five families with a total of six children with BBS, from as far away as Washington and Oklahoma. One child, Lucy Pothier, and her family traveled all the way from Arizona. During the course of a week, this family 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.

The clinic is more than just appointments. 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.

The BBS Clinic now runs every two to three months but Dr. Haws hopes to make it a monthly program. Philanthropic support is needed to sustain the BBS Clinics. For more information, please contact Teri Wilczek at 715-389-3249, or wilczek.teri@marshfieldclinic.org.