Rare Disease Day is February 28. As a patient advocate for the Mastocytosis Society Inc., I am writing to raise awareness for mast cell diseases. Mast cell disease comes in a variety of forms, which include mastocytosis, mast cell activation syndrome and hereditary alpha tryptasemia. Mast cells are immune system cells that are involved in allergic reactions, from minor swelling and stuffy noses to life threatening, full-blown anaphylaxis.
While mast cell diseases come in a variety of forms, the commonality is a defect in a person’s mast cell growth, accumulation or behavior. People with mast cell diseases often suffer tremendously due to constant exposure to seemingly innocuous stimuli that trigger acute reactions. Stimuli include foods, alcohol, chemicals, medications, odors, smoke, weather, hot and cold temperatures, friction or vibration, insect stings and bites, fatigue, exercise and stress. Reactions include flushing, itching, skin rashes, headaches, gastrointestinal symptoms, low blood pressure, difficulty breathing and anaphylaxis.
People commonly go many years before obtaining a proper diagnosis. Physicians who are unfamiliar with mast cell diseases are frequently dismissing people. Even after being diagnosed, patients struggle with limited treatment options, insurance barriers, financial burden of care, and access to appropriate care. Raising awareness about mast cell diseases can empower and guide patients to speak with their doctors about considering mast cell diseases as a possible cause for their symptoms.
Early diagnosis could lead to finding potentially life-changing treatments. It can also bring much-needed awareness to physicians, putting these rare diseases on their radar so they can recognize the symptoms.
Although there is no cure and the journey to finding the right combination of treatments is no easy task, a proper diagnosis and an educated patient and provider team is a patient’s first step to leading a healthier, happier and safer life. For further information about mast cell diseases, please visit The Mastocytosis Society Inc. at https://tmsforacure.org/.