Patient perspective: my rare disease journey.

My underlying diagnosis since birth was congenital muscular dystrophy Being born in 1970 meant that there were no genetic testing, no standards of care, and no true understanding of the pathology that separates one congenital-onset neuromuscular disorder from the next. Two muscle biopsies described histological abnormalities of small type 1 fibers and were among the first of M.H. Brooke's cases described as (Brooke, 295: 147 [1973]).