The participant’s parents first noticed that the participant was not meeting her developmental milestones at 9 months. At 11 months, she started having seizures (infantile spasms). An MRI at 11 months was normal; however, she had an abnormal EEG (hypsarrhythmia) that was consistent with epileptic encephalopathy. Despite medications, her 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
The participant was born early at 35 weeks and had feeding difficulties and breathing issues after birth. At 5 months, he was hospitalized for poor feeding and failure to thrive. At this time, he was also diagnosed with developmental delay. Two months later, he underwent G-tube placement to help with … read more
