This 6-Year-Old Boy Has a Disease So Rare Doctors Say He Is the First to Have It

Since he was just an infant, 6-year-old Cohen Bramlee has received his meals through an IV.

At 4 months old, Cohen was hospitalized with mysterious health issues that puzzled his parents, Todd and Carrie Bramlee, as well as his doctors.

“When he would get sick, he would be sicker than the other kids ever were,” Carrie, a mother of five, tells PEOPLE.

When his parents introduced food into his diet, Cohen’s stomach could not tolerate it, and he would sometimes vomit until he went into shock, his mother says. Doctors determined that he needed to be put on a central IV, and it is how the little boy has been getting his nutrients for the past five years.

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Doctors soon began to suspect Cohen’s immune system was the culprit because in addition to the gastrointestinal issues, Cohen would frequently suffer from fevers and bloodstream infections.

Cohen was spending around 180 days in the hospital each year. “He just progressed in this illness where things seemed to get worse and worse over time,” Carrie says. “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.”

“In fact, our GI doctor said, ‘There is a bigger monster that’s causing all of this,’ and he, at the time, said, ‘We may never figure out what that monster is.’ So you can imagine as a parent, that’s so disheartening to accept that.”

Finally, after having gone undiagnosed for five years, researchers at the Undiagnosed Diseases Network at Duke University were able to determine last year that Cohen had a variance in an immune system gene. With additional research by Dr. Stella Davies of the Cincinnati Children’s Hospital, they were able to prove that the gene mutation was the cause of his disease.

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“It was the first time that we really had hope that this was going to have a cure,” Carrie 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.”

According to Carrie, the disease causes his immune system to over-respond to everything from food in his GI tract to viruses and bacteria. This response can be so excessive that he has gone into shock multiple times as well as into acute liver failure. It has taken a toll on other organs like his gallbladder and pancreas as well.

Doctors are placing hope in a bone marrow transplant as the potential cure for the disease, which they believe could be affecting other children.

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Carrie says that after sharing Cohen’s story on social media, she found three other boys with similar conditions. All three are now being investigated for a similar mutation on the X-linked gene.

All of Cohen’s four siblings — Todd Christopher (T.C.), 16, Kayla, 14, Addyson, 11 and Anareese, 8 — were tested to be his bone marrow donor, and Carrie says it was a playful “competition” over who would get to help their little brother.

Both T.C. and Anareese were found to be perfect matches, with T.C. chosen as the donor due to his ability to give more cells.

As Cohen prepares for the surgery, he’ll undergo chemotherapy. But regardless of his condition, Carrie says Cohen remains positive.

“According to Cohen, This is his miracle and it’s going to work out,” the Carrie says.

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