Keeping Up with Sam

Sam was an adorable baby with very low muscle tone who was slow to develop. His mother, Carolyn, comments, "At 18 months he could hardly walk and had no speech." An exhaustive work-up from a variety of doctors was inconclusive. Then, a urine sample came back abnormal. Labs across the country tested the specimen. Eventually, it ended up at Baylor University Medical Center, Texas, in Dr. Mike Gibson’s laboratory. Mike Gibson, PhD, is a world-renowned expert and researcher on SSADH. The mystery was solved. Sam became only the 81st person in the world diagnosed with SSADH.

Sam did not respond to medication commonly used in SSADH but did respond to physical, occupational, and speech therapies. He is now 11 and is an active child. He speaks in sentences and he can walk, run, and play. He is preparing to enter fourth grade this fall. Sam’s parents are board members of the PND Association and the contacts for families affected by SSADH. They have been instrumental in raising awareness of SSADH, hosting an annual "Chip For Charity" golf outing that raises funds for research in SSADH and other PNDs.