After intentionally losing a significant amount of weight at age 14, the participant began to experience back pain and was later hospitalized for generalized tissue swelling (anasarca) as well as high blood sugar levels. He was identified to have weak and brittle bones (osteoporosis), fractures of bones of the spine … read more
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
The participant was meeting his developmental milestones until age 6 when he started to struggle with walking, falling 2-3 times a month. He also started slurring his words and his speech became muffled, making it difficult to understand. A year later when he was evaluated, he was found to have … read more
