The approval of Myozyme in 2006, after decades of research, has transformed Pompe disease from a severely disabling or fatal condition into a treatable, chronic disorder. But responses to the drug vary, its cost is high, and some questions remain unanswered.
posted on January 1, 2009 - 2:25pm
Mia Hanley of Cranston, R.I., looks pretty much like any 4-year-old preschooler. She’s a normal height and weight, walks well and has good language skills. In fact, when she started preschool at age 3, her fine motor skills were so good that she didn’t qualify for special services in that area.
Looking at Mia, most people would never suspect she spends every other Friday at Hasbro Children’s...
(Note: For more on this topic, see “What Not to Eat.”)
Hank Santini, Hillary Gibson and Vincent DaSilva all have Pompe disease (acid maltase deficiency) and say they’ve benefited enormously from the advice they received on nutrition and exercise from metabolic endocrinologist Alfred Slonim, now at Columbia University in New York.
Mark Tarnopolsky, a professor of pediatrics and medicine at McMaster University in Hamilton, Ontario, remembers clearly a patient he saw more than a decade ago, when he first began specializing in metabolism and nutrition.
The patient was an 8-year-old boy who had rapidly become weak and eventually almost completely paralyzed after exercising. His muscles were breaking down, spilling a protein...