Starting in early childhood, the participant experienced chronic diarrhea with excess fat in his stool (steatorrhea), fragile and sagging skin (cutis laxa), and poor wound healing. At 11 years old, a heart murmur was detected. Later in life, the participant was diagnosed with atrial fibrillation and heart muscle disease (cardiomyopathy). … read more
After birth, the participant spent time in the NICU due to jaundice, abnormal labs, and heart abnormalities (vascular ring, right aortic arch). The heart differences were surgically corrected. As a child, he was identified to have a mass on the right side of the neck, which was later determined to … read more
The participant’s seizures were first noticed when he was 2 days old. However, they may have started during the pregnancy since some movements were noticed in utero. These seizures were described as small jerking motions. He spent 5 days in the NICU and was discharged with seizure medication. He was … read more
