In 1984, when routine tests identified excessive protein in Fadel Ashmar’s urine, it was suspected he might have Fabry disease.
A kidney biopsy confirmed the diagnosis; however, little education was available at the time.
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In October 2009, Donna and Matthew encountered a previously unknown member of their family—Pompe disease. A medical inquiry into the unexplained hair loss of their youngest child Maddie eventually led to her diagnosis.
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For Dr. Wayne Rosenfield, humanity remains intact even in times of great suffering.
Wayne, who serves as a lead psychologist in a Connecticut hospital, knows what it’s like to be a patient—having struggled with Gaucher disease since youth. Nonetheless, Wayne does not consider himself a sick person. Instead, he prefers to focus on how Gaucher has strengthened his character and made him a better doctor.
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Amicus Therapeutics is committed to improving the lives of patients and families affected by rare and orphan diseases.
