A rare gift for a rare disease

Catherine Bardsley was just a girl when she learned to pronounce all nine syllables of mucopolysaccharidoses (MPS). It was an important word in her family.

Her younger brother, Bill was born in 1951 and soon displayed developmental delays. Bill was six years old when he was accurately diagnosed with MPS—a rare and potentially fatal group of genetic diseases—and died from the disease before turning 21.

When Catherine’s son Jeff was diagnosed with MPS, her husband, Wayne, launched a search for new knowledge in the field. That’s when they met Joseph Muenzer, M.D. Ph.D., a professor of pediatric genetics at Carolina, who offered hope with a new clinical trial.

Read the complete Carolina Story from UNC Health Care…

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