Rare Disease Day is Feb. 28, and as a patient advocate for The Mastocytosis Society, Inc. and a person living with Systemic mastocytosis myself, I am raising awareness for mast cell diseases, which come in a variety of forms, including 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. Mast cell diseases may come in a variety of forms, but what they all have in common is that something is wrong with the patients’ mast cells, whether in how they grow and accumulate or behave Patients 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.
Often patients go many years before being properly diagnosed, frequently being dismissed by physicians unfamiliar with mast cell diseases. 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, leading to earlier diagnosis and 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. ( https://tmsforacure.org/ ).
Sara Goldstein, Isanti
Patient and Advocate
The Mastocytosis Society, Inc.
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