Published: 11/05/2017 Tags: Ehlers-Danlos in the News

This Woman Is One of Just 10 People in the World with Her Genetic Condition

Published in Reader’s Digest

Doctors knew Melissa Bruebach was destined for health problems even before she was born, but it would take 24 years before anyone could tell her what was wrong.

When Bruebach’s mom was pregnant, doctors could tell something wasn’t quite right, but technology wouldn’t let them test for specific conditions. “My mom was advised to terminate the pregnancy,” says Bruebach, now 25. “They said, ‘We can’t guarantee anything. We don’t’ know how long she’ll survive after birth.’”

Her mom took a chance on her daughter-to-be, and Bruebach was born two months early. She weighed just three pounds but was surprisingly healthy beyond that. “I was tall and thin but didn’t need a lot of extra support and wasn’t [in the hospital] very long,” she says. But by the time she was eight months old, she needed a muscle biopsy. She’d experience a slew of health problems throughout life—without knowing the cause.

At just a couple months old, Bruebach’s head started getting bigger. Doctors said she had hydrocephalus, which is a buildup of fluid in the brain. At ten months old, she had her first brain surgery, when surgeons placed a tube called a shunt in her brain to drain the fluid out. Shunts have among the highest failure rate of any medically implanted device; about 13 percent fail within a month, and half fail by the two-year mark. Bruebach’s second one lasted surprisingly long—13 years—but she’s had four in her lifetime, plus six or seven more brain surgeries. Hydrocephalus is a condition, though, not a disease, so she didn’t know what was behind it.

Fluid around the brain was only the beginning. Bruebach also had scoliosis, and it progressed quickly. By the time she was about three, she needed surgery to take bone from her rib to her spine to help straighten the curve. “That’s young to have your spine fused, because you don’t grow,” she says. “When I sit, I have the torso of a four-year-old.” She had two more spinal fusions, at age four and twelve. Over the years, she’s now had a total of 20 to 30 other surgeries for various health problems, including vascular problems.

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Note from The Ehlers-Danlos Society: The new criteria has reclassified FKBP14-related EDS as kyphoscoliotic Ehlers-Danlos Syndrome. FKBP14 is the second gene associated with kEDS and shares a phenotypic overlap with the other more common kEDS gene, PLOD1. More information on kypohoscoliotic EDS can be found here.

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