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 excruciating headaches. At the age of 18, doctors diagnosed her with Ehler-Danlos syndrome, a rare genetic disorder marked by overly stretchy connective tissue. In Wilson’s case, the disorder revealed itself in double-jointedness that led to four shoulder dislocations.
An MRI showed that the young woman had a small slippage of her brain into her spinal column, called a Chiari malformation. The lower part of Wilson’s brain drooped exactly five millimeters below her skull, putting it at the upper limit of what doctors would consider normal slippage. Her doctors dismissed the aberration as too minor to be the source of her worsening vision loss, pain and headaches. Yet Wilson continued to suffer.
“I couldn’t see and I couldn’t drive,” Wilson says. “I lost the use of my legs. But because doctors couldn’t see my pain, to them it didn’t exist.”
Her local physicians encouraged Wilson’s parents to consider a seeing-eye dog and to enroll her in a school for the blind. Refusing to give up, her mother scoured the internet for a possible link between Ehler-Danlos syndrome and Chiari. Her research led the family to pediatric neurosurgeon Aria Fallah, MD, at UCLA Mattel Children’s Hospital.
“Rhianna was absolutely debilitated by these problems,” Dr. Fallah says. “She had gone from doctor to doctor and hospital to hospital with essentially normal-looking MRIs. So they’d been quite dismissive of her symptoms.”
After Wilson told Dr. Fallah that her symptoms worsened after periods of standing, he referred her for an unconventional stand-up MRI. The scan revealed a diagnosis that previous doctors had missed. A large Chiari malformation — not visible on a traditional MRI during which the patient reclines horizontally — extended nine millimeters into Wilson’s spinal column. The over stretchiness of her connective tissue — combined with an assist from gravity when she stood up — caused Wilson’s brain to sag, compressing her brainstem and spinal cord. This created her terrible pain and robbed her of the ability to see and walk.
Dr. Fallah removed Wilson’s top vertebra and the back bone of her skull, creating more space for her brain and relieving her symptoms. When Wilson opened her eyes after surgery, she could see again. In less than three weeks, she was living like a typical teenager: driving, hiking and enjoying the active social life she’d missed during her senior year.
Wilson’s case was unusual enough that she became the subject of a column in The New York Times Magazine’s “Diagnosis” column. Today, Wilson is reclaiming her life and making up for lost time. She has re-enrolled in college and is working at a restaurant and mentoring two young girls, who are also living with Ehler-Danlos syndrome.