The founders of the organization became dedicated to finding answers to their questions after their daughter was diagnosed with Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More at the age of twelve. Although she had many medical problems starting in early childhood, it was very difficult to find a proper diagnosis for her symptoms.

This is often the case with delayed onset patients whose symptoms and progression vary. They were eventually led in the right path by a relative, a pediatrician at the Mayo Clinic in Rochester, Minnesota. Following extensive testing and a muscle biopsy, she was diagnosed with Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More.

The prognosis was dire. The parents were told that the disease was progressive, that there was no treatment or cure, and that their daughter would only live to the second decade.

At that time there was minimal information available about Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More, and the parents were uncertain about how much time Tiffany had. After months of investigation, however, they found that several major medical centers in the United States and in Europe were working on enzymeA protein that helps the body carry out chemical reactions. More and gene replacement therapy for Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More.

Today, there is hope for Tiffany’s future. She participated in a clinical trialA research study that tests new treatments or approaches in people. More for enzymeA protein that helps the body carry out chemical reactions. More replacement therapy and continues to receive this therapy. EnzymeA protein that helps the body carry out chemical reactions. More replacement therapy has “given her her life back.”

Meet the Team