rare disease day 2020 - JJ

Helping People with Rare Diseases Live without Limits

 J.J., living with acid sphingomyelinase deficiency, US 

For Sebastien Martel, Global Head of Rare Diseases, one of the best parts of his job is engaging with the rare disease patient community. 

One story that has inspired Sebastien is that of J.J., a coffee shop owner in Colorado, US, living with the rare disease acid sphingomyelinase deficiency (ASMD), for which there is currently no approved therapy. 

Throughout his life, J.J.’s doctors have given him a long list of things he cannot do because of his disease—do not play sports, do not travel, etc. His life is restricted in many ways simply because he has a disease with no available treatment option.
J.J.’s story motivates Sebastien to understand patients’ experiences and work every day to help turn these do nots into dos.

What Does Rare Mean to You? Sebastien Martel

Daily life with a rare disease 

Patient stories not only inspire our work every day—they also provide valuable insights into the impact that a particular rare disease has on their lives, which ultimately allows Sanofi to better understand where patients’ needs are not being met and how it can help to fill those gaps.

JJ
Watch J.J. share his personal experience living with ASMD
brad
Brad’s Story: Living with Cold Agglutinin Disease
Shaylee
Living with Pompe Disease – Shaylee’s Story

Each story inspires our science

Throughout all stages of development of a new therapy—from research to development to medical to commercial—the patient experience is at the center of Sanofi’s efforts. Even when a therapy is available, Sanofi looks for ways to do more to advance patient care. Its approach is rooted in perseverance–one family at a time.

Perseverance in Rare Diseases
Clinical study rare diseases
Sanofi Researchers Turn a Hunch into a Clinical Study for Rare Diseases
Make Your Pledge4Rare this Rare Disease Day

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