Boy's rare disease took 5 years to diagnose, family says

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A 6-year-old boy’s family is pinning their hope on a bone marrow transplant as a possible cure for a disease so rare that it took five years for doctors to find a diagnosis for him. Cohen Bramlee, the youngest of his family’s five siblings, first landed in the hospital at 4 months old, according to PEOPLE.

Cohen, pictured left with his older brother who is his bone marrow donor, and right with all of his siblings, is his family's superhero. (Courtesy of the Bramlee family.)

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His puzzling symptoms included food intolerance that would sometimes send his body into shock and required him to receive his meals and nutrients entirely through a central line catheter. He spent much of his young life in and out of the hospital, but doctors couldn’t nail down the underlying cause until researchers at the Undiagnosed Diseases Network at Duke University got a hold of his case. They determined that Cohen had a variance in an immune system gene, which was confirmed by Dr. Stella Davies at Cincinnati Children’s Hospital to be the cause of his ailments, PEOPLE reported.

From there, his medical team determined that a bone marrow transplant may be the cure he needs. Two of Cohen’s siblings were found to be matches for a bone marrow transplant, with 16-year-old Todd Christopher chosen as the donor.

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“It was the first time that we really had hope that this was going to have a cure,” Carrie Bramlee, Cohen’s mother, told PEOPLE. “He’s been very sick and we came close to losing him several times, so now knowing that there is a chance for him to not only be healthier but be cured is unimaginable.”

The family has kept their supporters updated through the “Super Cohen’s Crusade” Facebook page, which includes snapshots of his everyday life. He is currently making his way through a pre-bone marrow transplant bucket list which includes a visit to Build-A-Bear and a fishing trip. According to the page, the transplant is tentatively scheduled for the second week of September.

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“Our superhero might be medically fragile but make no mistake about it, he is a strong, brave and an amazing little guy that brings so much joy to all who know him,” a blog post on the page reads. “We are blessed to call him our son. I pray his strength inspires all who hear his story!”