The Search for a Rare Diagnosis and Treatment
Teenager Rhianna Wilson spent her senior year of high school in and out of four San Diego hospitals, seeking relief for her vision loss, leg pain and debilitating headaches. She was diagnosed with Ehler-Danlos Syndrome (EDS), a genetic disorder marked by overly stretchy connective tissue, but no one could explain what caused her worsening symptoms. Doctors encouraged Rhianna’s parents to consider a seeing-eye dog and enroll her in a school for the blind.
Her mother’s research led her to UCLA Mattel Children’s Hospital, where pediatric neurosurgeon Dr. Aria Fallah referred Rhianna for a stand-up MRI. The scan revealed a large Chiari malformation, a rare condition in which the brain slips downward and compresses the spinal column. Dr. Fallah removed Rhianna’s top vertebra and the back bone of her skull, creating more space for her brain and relieving her symptoms.
When Rhianna opened her eyes after surgery, she could see again. In less than three weeks, she was living like a typical teenager: driving, working, hiking and enjoying the active social life she’d missed during her senior year.