Consider your life.
Now consider how your life might change if things like loud noise, heat, strong emotions or stress, odors or even being startled could cause you to have an allergic reaction. Imagine suffering allergic reactions so frequently that you prayed for just 30 seconds of real relief each day. Imagine dreading the next reaction, because it may bring vomiting and diarrhea, convulsions, unresponsiveness or even paralysis-like symptoms.
Jennifer Robin, who was diagnosed with mast cell activation syndrome (MCAS) in 2014, faced these challenges daily, until she received treatment in 2015 from University of Minnesota Health Hematologist/Oncologist Lawrence Afrin, MD, an internationally respected expert on MCAS.
“The disease can be a life-ruiner. I was unable to work, live independently, drive, have a social life—or really have much of any life,” said Jennifer.
“The world just wasn’t safe for me”
Although she was always very sensitive to allergens, Jennifer’s overall health began to nosedive in her early 20s. A Maryland resident, Jen was forced to resign from her job when variety of physical symptoms—including severe headaches, cognitive difficulties and fever-like problems—began to affect her health.
In 2010, Jennifer was misdiagnosed with Lyme disease. Treatment for Lyme disease did not alleviate her symptoms, which became more severe over time. Jennifer began experiencing seizure-like episodes, slurred speech, insomnia and muscle weakness.
“I was so sick and pretty much bedbound for a couple of years. My parents had to help me to the bathroom two feet away,” Jennifer said. “No doctor seemed to have any clue what was happening.”
In 2013, Jennifer was diagnosed with postural orthostatic tachycardia syndrome (POTS), which is marked by a drop in blood pressure when standing. That same year, she was also diagnosed with Ehlers-Danlos syndrome (EDS), a group of genetic disorders that primarily affect connective tissue in skin, joints and blood vessel walls.
But neither diagnosis seemed to account for all of Jennifer’s difficulties, which continued to become more severe. At times, she felt the tissues of her throat closing—a life-threatening occurrence known as anaphylaxis.
In 2013, the two doctors that diagnosed her with POTS and EDS both referred her to Lawrence Afrin, MD, who was transitioning from the Medical University of South Carolina to a new position at the University of Minnesota Medical Center. Afrin is one of the most prominent international experts on mast cell activation syndrome (MCAS).
Finally, a diagnosis and solution
When she learned Afrin was moving to the University of Minnesota, Jennifer—desperate to find a solution to her bevy of erratic and mysterious symptoms—called ahead.
In July 2014, Jennifer met with Afrin for her first appointment. After carefully examining her medical history and lab test results, Afrin told her that mast cell activation syndrome might be the “root diagnosis” to most if not all of her symptoms. Afrin ordered lab tests, but that day Jennifer’s symptoms were in remission and the tests were largely inconclusive—which is not unusual for MCAS patients.
“MCAS is a chameleon, difficult to identify for many reasons,” Afrin said. “It presents with different symptoms—which are often inflammatory or allergic in nature—to different degrees in different places in the body.” To make matters worse, many healthcare providers are not yet familiar with the condition. Though more research on MCAS is emerging, relatively little information exists about the syndrome in medical literature.
At a follow-up appointment with Afrin months later, two of Jennifer’s lab results came back positive, including her level of histamine, which was five times the normal limit. Histamine is a chemical neurotransmitter that causes allergic responses. That day, Afrin diagnosed Jennifer with mast cell activation syndrome.
Mast cells, which release histamine, are a critical component of a person’s immune system. But in patients with mast cell activation syndrome, the mast cells are over-active. Many of Jennifer’s symptoms were actually allergic reactions—caused when her hyperactive mast cells responded
At first, Afrin prescribed a series of medication trials to try to inhibit mast cell activity, but none helped significantly. Finally, Afrin recommended a trial of a low dose of the medication Gleevec, a non-chemotherapy medication often used to treat certain blood and other cancers.
"It was Dr. Afrin who saved my life"
Within nine days of starting Gleevec, Jennifer noticed a dramatic turnaround in her health.
Gleevec prevents a key mast cell element from activating, Afrin said, and in some patients halts or reduces allergic reactions.
“I went from on death’s door step to feeling—in between my now few reactions—mostly normal,” Jennifer said. “I was able to go off twelve medications including the bottle of Benadryl [I took] a day.”
Although Jennifer still receives treatment for her conditions, she credits Afrin with tipping the scales and helping her reclaim her life. She also thanks her online support groups and her family with supporting her through her extended medical journey.
“Out of the hundreds of doctors that I have seen, it was Dr. Afrin who saved my life,” Jennifer said. “Never once did I feel the need to ‘prove’ that my symptoms were real or of physical origin as I’ve had to with other physicians. He just believed me.”