Six-year-old US boy has disease so rare, it doesn't even have a name

Cohen prepares for his bone marrow transplant.
Cohen prepares for his bone marrow transplant. Photo: Facebook/ Super Cohen's Crusade

Six-year-old Cohen, a little boy who eats "through his heart", has a disease so rare it's never been documented in another patient.

Despite being hospitalised with mysterious health issues at the age of just four months, it's taken what his mother, Carrie Bramlee, of Ohio in the US, describes as a "long medical odyssey", which lasted five years, to get answers - and hope.

After suffering from fevers, bloodstream infections and at times vomiting until he went into shock, last year, researchers at the Undiagnosed Diseases Network at Duke University discovered that Cohen had a variance in an immune system gene.

In conjunction with Dr. Stella Davies of the Cincinnati Children's Hospital, they were able to prove it was the cause of his disease.

Writing on her Facebook page, Super Cohen's Crusade, Ms Bramlee explains: "Cohen's VSIG4 gene variant has caused relentless issues for his poor little body's immune system and GI tract." As he can't have anything through his GI tract, Ms Bramlee notes that this means he eats "nothing".

"Yep, that's right... only a superhero can have a superpower that incredible," she says. Instead, Cohen's nutrition comes from a medication called TPN that is administered through his veins via a central line catheter. "He 'eats through his heart'" she notes.

In an interview with People, Ms Bramlee recalled that Cohen was spending around 180 days in hospital each year. "He just progressed in this illness where things seemed to get worse and worse over time," she said. "Along the way, we would pick up these small symptom-type diagnoses, that we know what is happening, but we don't know why it's happening. Nobody could ever figure out what was causing all of them."

But the diagnosis has given the family hope for Cohen's recovery.

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"It was the first time that we really had hope that this was going to have a cure," Ms Bramlee says. "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."

Doctors believe a bone marrow transplant could cure the little boy.

All of four of Cohen's siblings Todd Christopher (T.C.), 16, Kayla, 14, Addyson, 11 and Anareese,  were tested to be Cohen's bone marrow donor. And while both T.C. and Anareese were found to be perfect matches, T.C was chosen due to his ability to give more cells.

Prior to the surgery, the family has been working through Cohen's Bone Marrow Transplant Bucket List, which includes games nights, fishing and laser tag.

After years of flying to Cincinnati Children's hospital for treatment, the family have now relocated to be close to Cohen's medical team.

On August 26 Cohen began chemotherapy in preparation for his bone marrow transplant, which is scheduled for mid September.

In her most recent update, Ms Bramlee shared that her son was a " ittle more tired than usual" but otherwise, "at his normal".

"The next round of chemo doesn't like to play nice," she wrote. "Our sweet boy is expected to feel pretty yucky after that one. He knows it's coming, and he is facing it with more bravery than I am. He never stops amazing me."