@xo_charlotte_rose_xo: Today is rare disease Day 🧬🩺 I live with Juvenile Polyposis Syndrome (JPS) caused by a SMAD4 mutation, which also results in Hereditary Hemorrhagic Telangiectasia (HHT). Juvenile Polyposis Syndrome is a rare genetic condition affecting a major tumor suppressor gene. It impacts 1 in 160,000 people in the uk, with around 15-25% of JPS cases being caused by a SMAD4 mutation. Yes - it is painful. Sometimes it's physical pain in my Gl tract from polyps and procedures. Sometimes it's exhaustion from amemia and extreme fatigue. Sometimes it's the emotional weight of knowing this is forever. Because my mutation is in the SMAD4 gene, it also affects bl00d vessel development. HHT is a disorder that can cause internal bleed1ng, AVMs in major organs, brain hem0rrhage and str0kes. Living with a rare genetic condition means lifelong monitoring, screenings, procedures, and learning to advocate for myself. It's invisible to most people, but it's part of me. Genetic awareness matters. Early diagnosis saves lives. Research matters. Be kind always. #rarediseaseawareness #awareness #geneticdisease #educational

Charlotte 💌

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Region: GB

Saturday 28 February 2026 10:31:19 GMT