Face to Face

Rare Disease Day

Yesterday, Sunday, Feb 28, was Rare Disease Day. It made me reflect on the great progress that has been made over the last few years in diagnosing and treating many rare diseases. At the same time, it made me remember that there are still many diseases for which there is no therapy available. I am encouraged by the research and development that is happening at Genzyme and many other companies for rare disease conditions.

It’s because of the support and advocacy shown by so many on behalf of patients with rare conditions that we are encouraged and motivated to find solutions for these unmet medical needs. Rare Disease Day is an important time to remind people that those suffering with a rare disease often are delayed in getting an accurate diagnosis, lack of information on their disease, and have significant challenges in accessing treatment or care if it is available.

I am proud to be one of many at Genzyme whose responsibility is to ensure that patients in even the remotest parts of the world have access to Genzyme’s approved therapies (Gaucher, MPS I, Fabry and Pompe diseases) through our humanitarian programs. I hope someday everyone who suffers from a rare disease has a therapy. Until then, patient advocates must continue in their efforts to raise awareness of rare diseases and promote the need for scientific research. I would like to extend my sincere thanks and appreciation to all those who are working on behalf of people with rare diseases.

New Movie on Pompe Disease

This Friday, a movie called Extraordinary Measures will hit theaters. This movie is raising quite a bit of interest around Pompe Disease, a rare and debilitating neuromuscular disorder. Genzyme manufactures a product called Myozyme to treat Pompe disease. If you’re interested to learn a bit more about the real story behind Myozyme I recommend you check out this website.

Earthquake in Haiti

My heart is heavy as I read the news coverage on the devastation caused by Tuesday's 7.0-magnitude earthquake in Haiti. It is hard to grasp the loss of life there. When I heard the news my thoughts immediately turned to a Gaucher Initiative patient in Haiti. After some time we were able to find out that she and her family are safe. We are trying to find out if they need any help and how we can reach out to them. I am keeping her and all the people of Haiti in my thoughts and prayers. - Tomye