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

doctorAndrei_R/ShutterstockDoctors 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.

When Bruebach’s little sister was born, the family was relieved the baby was so healthy. She was born full-term, and walked and cried at the time expected of her. But when Bruebach was nine, her five-year-old sister passed away suddenly from a brain aneurysm. Doctors said it—and Bruebach’s condition—must be genetic, but no one could answer what it was.

patientVia Lucy HewettOther than visiting an orthopedic surgeon and heart surgeon once or twice a year to keep an eye on her, Bruebach’s childhood was pretty normal, she says. But as the hunt for a diagnosis went on, seeing a geneticist annually through her teenage years got tiresome. No one could tell her anything new, and by the time she was 20, she was sick of going. “Why [was] I wasting my time when I could be studying or with my friends?” she says.

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During her sophomore year in college, one of her shunt insertions did not go well. It broke four months in a row, and the complications forced her to miss her entire junior year. “I had brain surgery once a month and could not catch whatever was going on,” Bruebach says.

“I had brain surgery once a month and could not catch whatever was going on.”

Just as she was giving up hope for a diagnosis, though, she got connected with genetic counselor Allison Goetsch. “She got a warning that I would probably turn down anything she had to offer,” says Bruebach. “Finally she came back with new ideas and test options. She threw all this information at me and I said, ‘Maybe I can get a diagnosis.’”

brainSpeedKingz/ShutterstockBased on the new information she’d run across, Goetsch suggested tests that were more intense and expensive. “I was … careful to set realistic genetic test expectations (positive results occur only about 1/3 of the time) without minimizing the benefits of identifying a definitive diagnosis,” says Goetsch. “I put her in the driver’s seat and made sure she knew she could stop at any time and I would support her decision.” Bruebach agreed to go through with them, but she still was skeptical that any would give a solid answer. She told Goetsch to call her if she found anything—Bruebach was done going out of her way for yearly appointments.

When Bruebach was 24, Goetsch made a surprise appearance at one of her cardiology appointments.

She had a diagnosis.

Tests revealed that Bruebach has an extremely rare condition called FKBP14-related Ehlers-Danlos syndrome (EDS). Only nine other people in the world have it.

After 24 years of testing, and one whole exome sequencing later, I have finally been diagnosed with FKBP14 related…

Posted by Melissa Bruebach on Tuesday, June 21, 2016

EDS is a more common genetic condition that usually involves loose joints and easily bruised skin. Scientists didn’t discover the form linked to the FKBP14 gene until 2012, which explains why Bruebach was left in the dark for so long. “I began to research Melissa’s genetic variants and the specific gene,” says Goetsch. “Interestingly, I found a just published research article reporting additional clinical findings not previously thought to be associated with the condition in question. It was a game-changer.”

Putting a name to her condition helped put Bruebach in touch with a small community of people who share her diagnosis. By making a Facebook post, she found three out of the other nine people who have the syndrome, and they started a chat. “To be able to find other people that have it is strangely comforting,” she says. For instance, Bruebach has been able to reassure the mom of a little boy with FKBP14-related EDS that he might not hit milestones as soon as expected—and that’s OK. Just because he isn’t crawling at age two doesn’t mean he won’t when he’s older.

Not much is known about FKBP14-related EDS, and Bruebach’s life hasn’t changed much since her diagnosis, she says. She still expects more brain surgeries in the future and will continue keeping an eye on her heart, but she’s still relieved to know the name behind her symptoms. “On medical charts, it said ‘undiagnosed mutation’ or ‘undiagnosed genetic condition,’” she says. “It always felt kind of unfinished.”

patientCourtesy, Melissa BruebachDiagnosis or not, the genetic syndrome hasn’t held Bruebach back one bit. Despite needing so many surgeries, she’s had no trouble holding her job as a financial analyst, and just got back from a vacation in Spain. “In general, surgeries are not usually bad. I’m in and out in a day or two and back to work,” she says. “You just have to live your life and not let it run your life.”

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