Each year, October 1 marks International Gaucher Day, and in the U.S., this is also the start to National Gaucher Disease Awareness Month. Awareness milestones are important, especially in rare diseases like Gaucher disease, to bring attention to the impact of these lesser known diseases. It provides an opportunity to highlight successes, raise awareness, and to look back on, not only how far we have come, but also look to the future, and acknowledge what can still be done.
For years, very little was known about Gaucher disease, but great advancements have been made over the decades, including the introduction of medicines to help treat the disease and the establishment of patient advocacy organizations that strive to address unmet patient need.
This year, we join the International Gaucher Alliance in celebrating their 25th anniversary, and support their work to recognize all those who have shown support to Gaucher disease patients during their journey – the Rare Stars.
Sanofi Genzyme has had the benefit of being at the forefront of many of these milestone moments. Our commitment to the Gaucher disease community, and rare diseases as a whole, is deeply ingrained in the history of our company and spans more than 25 years. In fact, we were the first to develop an enzyme replacement therapy (ERT) for the treatment of a lysosomal storage disorder– and today, our dedication to helping patients remains steadfast. We are focused on continuing to be transformative – developing therapies, funding research, and offering pioneering solutions that have the potential to offer meaningful change for those who are impacted by Gaucher disease and other rare lysosomal storage disorders.
“Advancing patient care for people living with Gaucher disease is a huge focus of ours at Sanofi Genzyme,” said Lance Webb, Senior Medical Science Liaison, U.S. Rare Diseases. “Over the past 25 years, the Gaucher community has adopted Sanofi Genzyme as part of its family and we are thrilled to be able to support them on their treatment journey.”
“I’ve been at Sanofi Genzyme for 30 years – and the thing that keeps me here is the patients,” said Paula O’Donnell, Manufacturing Excellence Division Leader. “The patients are the cornerstone of what we do and who we are as an organization and I’m honored to play a small part in helping to provide the support they need.”
There is much work still to be done; with about 10,000 people diagnosed with Gaucher disease worldwide, there are still thought to be many more that are undiagnosed. Despite the progress that has been made, many people still do not have a full understanding of Gaucher or its impact. We continue to focus on increasing knowledge and understanding of this rare disease, inspired by the patients and caregivers who continue to fight fearlessly for progress every day. Learn more about Gaucher disease below.