At 7 months old, the participant had his first seizure. He started taking phenobarbital and did not have additional seizures until age 5. While weaning off of phenobarbital at age 5-6, the participant began experiencing lower extremity pain and uncontrollable movements. He restarted phenobarbital; however, his symptoms continued to progress. … read more
The participant was born at full-term. He was delivered by C-section because he had stopped moving down the birth canal (arrest of descent). At 9 months, his parents become concerned when he was not crawling or pulling up to stand. At 15 months of age, he began interventional therapy with … read more
Shortly after birth, the participant was found to have gastroesophageal (acid) reflux and low muscle tone (hypotonia). His growth was normal except for a large head size (macrocephaly). At 2 months old, it was noted that he had cataracts and he underwent surgery before 1 year old. He was also … read more
