The participant is a former elementary school teacher who developed painful redness of her feet and hands when she was 44 years old. At first the redness would come and go, but now it is nearly constant. Aspirin provided relief initially but is no longer helpful. Colder temperatures currently provide … read more
At birth, these patients were found to have cleft palate, which required surgery to repair. Shortly after, they were noticed to have very low muscle tone (hypotonia) in the arms and neck. The younger sister has increased muscle tone in her legs and wears braces at night on both ankles … 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
