The participant noticed that he was weaker than his peers in childhood. At age 23, he noticed difficulty getting up from a squatting position and climbing stairs, and began experiencing progressive muscle weakness involving muscles in his arms, legs, face, and eyes. He also developed heart muscle disease (dilated cardiomyopathy) … 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 at full term via a scheduled c-section due to his mother’s history of Hodgkin’s Lymphoma. He was transferred to the NICU due to poor feeding, vomiting, and a heart murmur. His parents also noted that he had a high-pitched cry. At 4 days old an echocardiogram … read more
