Child’s rare condition diagnosed after 14 years of searching
Imagine how it would feel to have a child born seemingly healthy, but then he struggles to grow, walk, learn or talk – and no one can figure out why.
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Imagine how it would feel to have a child born seemingly healthy, but then he struggles to grow, walk, learn or talk – and no one can figure out why.
Research and clinical services go hand in hand. One can’t effectively work without the other.
Several months after Ella’s first birthday, she received her diagnosis of Rett syndrome. “It was devastating, life changing. It’s rare – we hadn’t heard of it before we started this journey and it’s a very difficult diagnosis to process,” Jennifer says.
Peggy Modaff, MS, CGC, a distinguished clinical genetic counselor in the department of pediatrics and clinic coordinator of the Bone Dysplasia Clinic, was selected to serve on the medical advisory board for the non-profit organization Little People of America (LPA).
The start of the Waisman Center’s Bone Dysplasia Clinic was a case of serendipity. It was 1980 and Richard Pauli, MD, a pediatric geneticist, had just arrived at UW-Madison. Over the course of the year, Pauli settled into his new role at UW Hospital. Then in 1981, he was approached by radiologist Len Langer, MD, with a strange request.