When the participant was 2 days old, she was found to be arching backwards. It was suspected that she was having a seizure, but follow-up testing was normal. She has not had any seizure-like episodes since. Early in life, she was also found to have hearing loss (sensorineural hearing impairment) … read more
After a premature and complicated birth, the participant spent 3 weeks in the NICU recovering from breathing and feeding difficulties as well as sepsis. Early on, the participant had some difficulty with fine motor skills and speech delay. He learned to walk at 17 months, but his knees would hyperextend … read more
At age 5, the participant underwent a procedure to ease the symptoms of her brain abnormality (Arnold-Chiari type I malformation). She was later found to have a fluid-filled cyst in her spinal cord (syrinx), which has caused back pain. She was also noted to have delayed speech and motor development … read more
