02/28/2026
Today is Rare Disease Day, and today we’re featuring our patient, Ruby!
Ruby is 11 years old. She was diagnosed with Coffin-Siris Syndrome, an extremely rare genetic disease, at 3 months old. There are roughly 500 cases world wide.
Ruby is non verbal and uses a feeding tube for meals and medications. She also has epilepsy, autism, congenital heart defects, hearing and vision impairment, scoliosis, and suffers from pulmonary complications. She loves Peppa Pig, Sesame Street, and her iPad!
She and her family are involved with the Coffin-Siris Syndrome Foundation in helping raise awareness and community through social media.
