Updated: Jan 9
Though Calliope Joy’s disease is too far progressed to be treatable, her parents have helped other children with metachromatic leukodystrophy get access to an experimental therapy.
(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.
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, the doctors explained. Cal would be unlikely to see her sixth birthday.
To help assuage their grief, Cal’s parents .......