Jeff’s Advanced Systemic Mastocytosis Story

Jeff was first diagnosed with systemic mastocytosis early in life, at age 16. The first sign that Jeff knew that something was off was when he developed urticaria pigmentosa, abnormal skin lesions that, for him, resembled freckles. The doctors confirmed his diagnosis with a biopsy. Unfortunately, the understanding of the illness within the medical community at that time was even more limited than it is today. This meant that the doctors had basically no solution for Jeff’s systemic mastocytosis:

“They just started by giving me antihistamines, basically just over-the-counter Claritin. It didn’t really do anything.”

About Systemic Mastocytosis

Systemic mastocytosis is a rare disorder that affects mast cells, or mastocytes. The disease is most characterized by the abnormal accumulation of defective mast cells and mast cell precursors. In most cases, the disorder is linked to the KIT D816V mutation, a cell surface receptor that mast cells express. In systemic mastocytosis, mast cells appear in the bone marrow and in other internal organs where these cells are not normally present, inhibiting their function. Symptoms include enlarged spleen and liver, fatigue, skin lesions, malabsorption, abdominal pain, peptic ulcers, diarrhea and vomiting, eye discomfort, inflammation of the ear, nose, and throat, anaphylactic shock, depression, headache, low blood pressure, and bone pain. While there is no cure for the disease, treatment options may include corticosteroids, proton pump inhibitors, antidepressants, antihistamines, and cytoreductive therapy. Most patients have a normal life expectancy, but severe cases are potentially fatal. To learn more about systemic mastocytosis, click here.

Jeff’s Story

The doctors continued to try different approaches, such as phototherapy, but it was simply having no effect on Jeff’s disease symptoms. Thankfully, Jeff wasn’t dealing with serious symptoms aside from the skin lesions. Unfortunately, that all changed in his early thirties:

“I got sick and the doctors noticed that I became anemic. They couldn’t figure out why but concluded that it had something to do with the mastocytosis. I was in the hospital for two weeks because the only way they could treat was with blood transfusions.”

Jeff also started losing weight. He started receiving chemo but it didn’t have any effect. Eventually, Jeff’s symptoms progressed to the point that he could no longer play the sports he used to enjoy, and his career in construction was also cut short.

Eventually, Jeff’s doctors proposed that he participate in the clinical trial for an experimental therapy called avapritinib, marketed as AYVAKIT. He began treatment and while he dealt with some nausea as a side effect, the symptoms of his systemic mastocytosis began to improve. The trial was a success and the drug has now been approved for use. Jeff continues treatment with this medication to this day.

“At first I was a little apprehensive. You wonder if you’re gonna grow a third arm on your back or something. But I had nothing to lose anyway…when I realized it was just a pill, I knew I would have it so much easier if it worked.”

With the current treatment, Jeff’s energy levels and other symptoms are much better and he is able to live a much more normal life. 

“Just hang in there. There’s always a shot for things to get better. Just don’t give up.”

Follow us