Face to Face

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

Central & Latin America

So far as we know, there is only one Gaucher patient in the Dominican Republic. Carolina was diagnosed with Gaucher Disease in 2006, and has been on Cerezyme enzyme replacement therapy since then. Thanks to Jhon Cuervo, General Manager for Venezuela, Central America and the Caribbean for Genzyme, for helping to explore opportunities for potential funding. His strong ties to the medical community helped the child to be provided with Cerezyme at no charge until longer term solutions can be found.

Our team, Christiana Petriz, Jhon Cuervo, Rodrigo Azambuja and I met in Santo Domingo, Dominican Republic, to call on the treating physician, and to see the patient and her family.

We went to the hospital first to meet with her treating physician, Dra. Celia Perez about her progress.

Jhon Cuervo of Genzyme discusses the case with Dra. Celia Perez de Ferran at the hospital where Carolina receives her fortnightly Cerezyme infusions through the Gaucher Initiative.

Then we hopped into a van and after 55 minutes of paved road, we continued for another 25 minutes on dirt roads to reach Carolina’s home. Carolina and her mother travel this same route for her bimonthly infusions, and in all the years she has been on therapy, Carolina has never missed an infusion.

Our caravan at Carolina and her family’s home. Dra. Perez came with us, next to Carolina and her mother in the front row.

I was struck by the beauty of the country, the friendliness and openness of the people, and I really loved the food!!

We passed through lush jungle, then climbed into mountainous terrain with spectacular views of the water below. We could see small communities along the way – and as we learned when we arrived at our destination (Carolina’s home), pathways lead off the main road to the real life in the DR.

Jhon Cuervo with Carolina, her parents and her brother at their home.

Carolina and me – what a charmer (Carolina!)