The participant was noticed to have developmental delays early in life. She also began to have seizures around age 6. At age 12, she started to have involuntary muscle contractions (dystonia). She developed difficulty speaking (dysarthria) as well, but this has since improved. In addition to these symptoms, the participant … read more
The participant’s parents first became concerned with his development when he was 6 months old and not yet rolling. He eventually did roll over at 8 months and was walking at 26 months. He began babbling at 14 months, but is currently nonverbal. At 11 months, he started having seizures. … read more
The participant was born at 33 weeks and stayed in the NICU for three weeks. While in the NICU, she received breathing and nutrition support though a CPAP (Continuous Positive Airway Pressure) machine and NG (nasogastric) tube. She was identified by newborn screening to have very low T-cell lymphocyte levels. … read more
