Originally reported in People Magazine, a family struggled for years to figure out what was happening to their son, Cohen Bramlee, who for years received his nutrients from a central IV and struggled with a wide spectrum of symptoms revolving around the immune system. This includes severe reactions to food and going into shock, fevers, bloodstream infections, and getting very sick from anything entering the body. After bringing him to doctor after doctor, they were always told the same thing. There is an answer to all of his symptoms but they could not find the key to string it all together. At age six, with the help of the Undiagnosed Diseases Network at Duke University, they finally found their answer in his immune system genes: he has a disease never seen before, unique to him.

Cohen’s Genetic Condition

Cohen has a mutation on a gene that causes his immune system to be over active. For years they had struggled to link together all the smaller symptoms through which his disease manifested but they had identified it to be related to the immune system due to his symptoms ranging from the gastrointestinal region, fevers, and blood, with time, causing damage to his organs as well. However, the symptoms didn’t match up with any conventional diseases. As he aged, his symptoms got worse. He was receiving his nutrients through an IV, being hospitalized for half of the year, and he would go into very severe shocks. His gallbladder, liver, and pancreas were being damaged and he would go into shock as his immune system over reacted to anything it encountered. The family feared they would lose him soon, as they had gone through quite a few scares when they almost did.

The Doctor’s Solution

Now that doctors have identified the disease, they have a potential solution too: a bone marrow transplant. First, he will receive chemotherapy and then he will receive blood marrow from one of his brothers, a perfect match.

Because he is the first of the disease they have treated, they cannot be sure of results or if the treatment is correct. However, having one patient identified with the disease opens the door to understanding it more, because probably if there is one, there is more. Since the family has told their story on social media,  various families have reached out to connect their similar stories. Now, they’re being tested to see if they share a mutation, and to search for others who may share the rare disease.