PARTY TIME: The Calliope Joy Foundation organizes regular “cupcake celebrations” to raise money for research on leukodystrophy. The funds have helped send young patients (four of whom are shown above) to Milan to receive an experimental stem cell treatment for one variation of the disease, metachromatic leukodystrophy (MLD).THE CALLIOPE JOY FOUNDATION
By the time Maria Kefalas and Patrick Carr noticed anything wrong with their youngest daughter, it was too late. Shortly after her second birthday, Calliope Joy—Cal to her parents—started to lose her balance. The family, who live in a Philadelphia suburb, visited the Children’s Hospital of Philadelphia, and in July 2012, Cal’s doctors returned a diagnosis: metachromatic leukodystrophy (MLD), a rare neurodegenerative disease that affects 1 in 40,000 infants and is caused by a genetic mutation in the ARSA gene on chromosome 22.
Children with MLD cannot produce arylsulfatase-A, an enzyme that breaks down sulfatides. So the compounds accumulate in the nervous system, where they attack the myelin sheaths that cover nerve axons, leading to loss of mobility and eventual paralysis. There was no cure, ...
