I was only 5 years old when a doctor from J.M de Los Rios in Caracas, Venezuela discovered I had Gaucher type 1. I was always sick, had nose bleeds, bruises, fatigue and my stomach was huge. When I was younger, I fractured my left leg, the doctors didn’t know what was happening to me and why I was always sick.
That day, I had a high fever and my mom took me to the emergency room and that day a genetic doctor was there and studied my case. My mom explained to the doctor that I always had pain on my legs. It was the worst pain, as if having a child without any medication. My leg would get swollen.
There was no treatment for Gaucher type 1 in 1991 available so the doctor recommended Ceredase. It was very expensive to get because the medical insurance in Venezuela is horrible and my mom was a single mom with two jobs. I was only able to rely on Ceredase every 6 months.I had a spleen removal in 1992 because it was enlarged and starting to hurt the liver. After the spleen removal, things got a little better but I still had the symptoms. I basically lived in the hospital because I was hospitalized so often because of my symptoms and my pain on my leg. To the point that after Kindergarten, I was home schooled and didn’t go back to a real school until third grade.In 1994 my doctor in Venezuela told my mom that Cerezyme was now available but it was not available in Venezuela. It was very expensive to get and the only way to get it would be to come to the United States.
In 1996 my mom received a phone call from the United States from a Venezuelan doctor working at St Jude Children’s Research Hospital who heard about my case since my mom sent my case everywhere around the world trying to find help in order to afford my treatment. The doctor mentioned that St. Jude Children’s Research Hospital was interested in researching my case and they would help with travel costs for her and for me. My mom received help from POLAR in Venezuela to cover my sister’s travel costs.
In June 9, 1997 my mom, my sister and I came to the United States of America. I was a patient at St. Jude Children’s Research Hospital but then St. Jude noticed my case had nothing to do with cancer so we met Marcella who was at Lebonheur Children’s Research Hospital at the time and she informed us that Lebonheur could help through Genzyme.
In 1999 I started receiving Cerezyme and it was heaven. I started feeling better and I would’ve not made it if it wasn’t for God’s help.I was told I could not have children but I did, I had a child and it was a high risk pregnancy but it was a blessing.Finally, I now receive Cerdelga because my life is so busy I wasn’t able to stay on Cerezyme. I am thinking on going back to Cerezyme because it is my treatment of preference.
-Yeyberth Lopez; Caracas, Venezuela