Newly discovered rare disease unites parents, researchers

Originally published in The San Diego Union-Tribune by Bradley J. Fikes More than 100 people gathered in San Diego on Sunday to discuss a rare disease that wasn’t even known to exist until three years ago. Caused by mutations in a gene called DDX3X, the disease produces moderate to profound developmental disabilities. It’s associated with physical…

A Small Request to the People Who Pray for My Child With Special Needs

Originally posted on The Mighty My daughter Emelyn’s first year was probably the toughest emotionally. Suddenly my picturesque family portrait wasn’t anything like I imagined — there’s maybe a wheelchair or leg braces or facial dysmorphisms or who knows what. The thought brought me to tears on more than a few occasions. Now, two years…

Families of girls with genetic mutation bond at the Special Clinic Family Day

Families of girls with genetic mutation bond at Special Clinic Family Day

Originally posted on Lancaster Online Eric and Riley Naff’s daughter Mila was a handful when she was a baby. She wouldn’t sleep or eat and was hard to soothe. She also had developmental delays. Their pediatrician referred them to a geneticist. After the tests came back OK, it was on to a neurologist, a pediatric nutritionist,…