Since our company’s inception in 2011, we’ve worked to bring innovative medicines to patients in need of new treatment options, including those living with a rare condition. In addition, we’ve dedicated years to studying these diseases and their impact on people’s lives.
On Rare Disease Day (February 29), we’re proud to reaffirm our commitment to improving and extending the lives of as many people as possible, and to collaborating with patients, patient advocacy groups, the medical community and other industry partners who share this goal.
Globally, approximately 300 million people are affected by one of about 7,000 identified rare diseases, or conditions that affect fewer than 200,000 people.1,2 Systemic mastocytosis (SM) is one of those conditions.
SM is a rare, mast cell-driven disease found in about 32,000 people in the United States and around 40,000 people in Europe.3-5 People living with SM often experience a range of debilitating and unpredictable symptoms across multiple organ systems, which can result in gastrointestinal, respiratory, musculoskeletal, skin, cardiovascular and neuropsychiatric symptoms.6 In a Blueprint Medicines survey of 56 U.S. adults living with SM, approximately 90% of patients reported experiencing 10 or more symptoms or events in their lifetime. In addition, SM may lead to a profound negative impact on people’s lives and the inability to work, leave the house or spend time with loved ones.6
“Imagine if when you exercised, took a hot shower or walked by someone wearing perfume or cologne, your day could be disrupted by severe brain fog, fatigue, itching or even anaphylaxis that may send you to the emergency room,” said Georg Pirmin Meyer, Senior Vice President of International at Blueprint Medicines. “These effects represent just a few of the possible symptoms people living with SM may face.”
Importantly, about 80% of rare diseases have a genetic origin.8 With SM, the KIT D816V mutation drives about 95 percent of cases.9,10 By leveraging our understanding of core mast cell biology, we work to design potent and selective medicines that target the root cause of disease, and we strive to deliver medicines to patients with high medical needs, including the SM community.
Our employees – known as the Blue Crew – not only spend their careers in the lab, the clinic, the field and beyond fighting for people with rare diseases, but many of them also have personal experiences caring for someone with a lesser-known condition.
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- “Each day is a different challenge for my son Declan who lives with a rare disease. He is the reason I have chosen to do what I do. He not only teaches me resilience and persistence, but importantly he’s also taught me how to advocate for him and how to navigate a complex healthcare system that is not designed to care for kids like him. I believe that if families who face these rare diseases only knew there was a team of individuals like the Blue Crew who care so much about them, who have dedicated their careers to this mission and are so passionate about fighting for patients and families like theirs, they would feel a tremendous sense of support in their journey. They may not know each of us individually, but together we’re doing really important work.” – Sean Flanagan, Vice President of Sales at Blueprint Medicines
- “My sister has a rare disease, so I see the impact daily that a rare disease can have on physical, social and mental wellbeing. Every day that all organizations and groups within this community can stay better connected, more innovative and more optimistic is a good day in the fight against rare diseases.” – Jessica Mullan, Director, International Communications at Blueprint Medicines
Today and every day, we’re proud to raise awareness for the people and families affected by rare diseases around the world, as we aim to advance scientific discovery and deliver transformative medicines for patients with urgent medical needs.
References:
1. Wakap SN, Lambert DM, Alry A, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database [published online September 16, 2019]. Eur J Hum Genet. doi: 10.1038/s41431-019-0508-0.
2. Haendel M, Vasilevsky N, Unni D, et al. How many rare diseases are there?. Nat Rev Drug Discov. 2020;19(2):77-78.
3. Cohen et al 2014.
4. Cohen SS et al. Epidemiology of systemic mastocytosis in Denmark. Br J Haematol. 2014;166(4):521-8. 3.
5. OrphaNet. Systemic mastocytosis. Available at Orphanet.
6. Pardanani A. AM J Hematol. 2021;96(4):508-525
7. Mesa RA et al. Cancer(Open Access). Published online August 23, 2022.
8. Frederiksen, S.D., Avramović, V., Maroilley, T. et al.Rare disorders have many faces: in silico characterization of rare disorder spectrum. Orphanet J Rare Dis 17, 76 (2022).
9. Rossignol J, et al. 2019;8.
10. Valent P, et al. Int J Mol Sci. 2019;20(12):2976.
In a Blueprint Medicines study, US adults with a self-reported SM diagnosis (N=56) completed an online survey of 100 items, including the 12-item Short-Form Health Survey, the ISM Symptom Assessment Form, and the Work Productivity and Activity Impairment Questionnaire, as well as questions about disease impact. The results were analyzed using descriptive statistics.
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