The participant was found to have limited joint movement (arthrogryposis) prenatally. She has required surgery to restore more flexibility to some of her joints. She currently has contractures at her shoulders, elbows and hips. She also has deviated fingers and toes, small thumbs, and rocker bottom feet (bilateral vertical talus). … read more
The participant was delivered via C-section after an uncomplicated twin pregnancy and was healthy at birth. She was slow to begin breast-feeding compared to her twin brother. She was notably irritable and “floppy” due to low muscle tone (hypotonia) and had difficulty gaining weight as a newborn. At 5 months … read more
The participant began experiencing chronic constipation at age 6. Testing identified GI issues (gastrointestinal dysmotility) and he was treated with a cecostomy tube at 8 years old. Since then, his constipation has gotten progressively worse and he has not been able to be weaned off of the cecostomy tube. Some … read more
