This Rare Disease Day, Sanofi invites you to Meet the Unmet as we share a selection of the often-unheard stories of people living with rare diseases. As a proud supporter of Rare Disease Day since its establishment in 2008, Sanofi shines a light on this remarkable community that often is overlooked yet lives with conditions for which only 5% have approved treatments.1
Currently, there are an estimated 7,000 known rare diseases – impacting as many as 300 million people across the globe.2,3
That means about 4% of the total world population is affected by a rare disease at any given time.3 Collectively, rare diseases are anything but rare. Yet, the diagnostic odyssey faced by any individual or loved one (it can sometimes take up to 10 years to get a correct diagnosis) can make anyone feel alone.1,4
Sanofi is deeply committed to researching and developing innovative treatments for rare diseases, with a special focus on lysosomal storage disorders and rare blood disorders as subsets of the rare disease spectrum. We also understand the significant difficulties faced by those living with rare diseases – who are often under-recognized and under-represented.
“Over the past 40 years, Sanofi has been deeply dedicated to researching and developing innovative treatments for rare diseases. Currently, we have one of the largest rare disease treatment pipelines in the industry across a broad array of conditions. But our commitment doesn’t stop at developing potential new treatments. We strive to ensure equitable access to medicines, to eliminate the long search for a diagnosis, and to elevate the voices of those living with a rare disease. That is our pledge.” said Shannon Resetich, Global Franchise Head, Rare Diseases.
We will shine a light on a very special group of people. We are honored to have had the chance to get to know them, their journeys, and their realities to help show and better understand the multi-faceted lives from within the rare disease community.
Vesna, who lives with Gaucher Disease in the country of North Macedonia, felt empowered by her diagnosis to seize what she initially identified as a problem and channel her energy to reframe the disease for herself as an opportunity. By sharing her story, she hopes people will understand the impact that rare diseases can have on those diagnosed, as well as their families and care partners.
Vesna hopes that in time, more people will come to see and understand the journeys of rare disease patients. Vesna is active in advocacy and awareness efforts, and among her many such endeavors, is the founder of an organization dedicated to improving rare disease care in her country.
As part of our enduring pledge to the rare disease community, we will continue to honor and elevate the voices of unique and inspiring individuals like Vesna, who together make up the rich mosaic of the under-represented rare disease community.
They are resilient, brave and remarkable. They are parents, spouses, siblings, coworkers, professionals, neighbors, and friends. They are more than just their diagnoses. They are people. People who deserve to feel seen and heard with captivating stories to tell.
Learn more about this remarkable community and watch some of their stories
- United States Government Accountability Office. (2021). Although Limited, Available Evidence Suggests Medical and Other Costs Can Be Substantial. https://www.gao.gov/assets/720/717145.pdf.
- NIH. Genetic and Rare Disease Information Center. FAQs About Rare Diseases. https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases. Accessed February 2022.
- Nguengang Wakap, S., Lambert, D.M., Olry, A. et al. (2020). Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet 28, 165–173. https://doi.org/10.1038/s41431-019-0508-0.
- Yan X., He S., Dong D. (2020). Determining How Far an Adult Rare Disease Patient Needs to Travel for a Definitive Diagnosis: A Cross-Sectional Examination of the 2018 National Rare Disease Survey in China. Int J Environ Res Public Health, 17(5), 1757. https://doi.org/10.3390/ijerph17051757.