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.