Mastocytosis: before, during and after diagnosis 17 June 2026 Written by Emma Bishop, RARE Revolution Insights from

Living with mastocytosis means navigating unpredictable, sometimes life‑threatening reactions alongside chronic pain, fatigue and fear. In April 2026, RARE Revolution hosted our 25th RARE Rev-inar. Sponsored by Blueprint Medicines, a Sanofi company, this discussion sees patient advocate Shawna Hull share her own personal journey with mastocystosis, and physician-scientist Dr Polina Pyatilova discuss the complexities of the disease and how a strong patient-doctor relationship allows for optimal care https://rarerevolutionmagazine.com/mastocytosis-before-during-and-after-diagnosis/ Dr Polina Pyatilova, a dermatologist and physician–scientist working in Berlin, sets the scene, explaining that mastocytosis is a disease characterised by an excess amount of mast cells in the body, due to a genetic variation, often in the KIT gene. The variation means mast cells keep growing and stay constantly active without trigger. There are two main types of mastocytosis; cutaneous, where mast cells are limited to the skin, and systemic, where mast cells are in the bone marrow and throughout the body, meaning multiple organs, such as the skin, gut and bones can be affected.