Virginia’s story: Family, music and Gaucher disease

In my life, three things have remained constant: family, music and Gaucher disease. I was born in Venezuela, where I lived with my family. I sang in the choir, began playing the violin and loved getting involved in school performances. When I was eight, my pediatrician – who was also my wonderful aunt – noticed that my sister’s and my growth was slowing down, and that our livers and spleens were enlarged. We went to a hematologist, who diagnosed us with a virus. I remember sitting down and telling myself that I couldn’t run around with my friends anymore, which made me sad. Then one day I woke up with pain on my right side. My parents were worried it was appendicitis, so they rushed me to accident and emergency. Appendicitis was ruled out, but my aunt knew it wasn’t a virus anymore.

A long journey to diagnosis

After that I was constantly going to doctors and hospitals. There were countless blood tests, CT scans, MRIs, and finally a painful spinal tap. Thankfully, my parents were always there with me, keeping me calm and supporting me. The results of these tests finally gave us the answer we had been searching for: Gaucher disease. It was nice to have a diagnosis, but there were no doctors in Venezuela who specialized in Gaucher, and all the information my parents found basically gave me a death sentence. But my parents refused to give up. After a long search, they found information about a treatment, and we began the process of trying to get it. A few months later, I had my first infusion. Finally, after all of the mystery and the worry, we were able to do something to fight against Gaucher disease.

A family affair

When it was confirmed later on that my brother and sister also had Gaucher, getting treatment turned into a family affair. My sister joined me a few months later. It was nice to have someone go through everything with me. We didn’t get along well, but we always had a special connection. We would go to my aunt’s house to get our at-home treatment and my cousins were usually there. We ate, watched movies, did homework and got ice cream. I loved the sense of freedom that we had even when getting the infusion. Even though Gaucher is sometimes a difficult disease to live with, getting treatment at home can make you feel in control, and more independent. When we moved for our father’s work, a nurse came to our home to give my sister and me our infusion. Eventually, my brother was also able to get his treatment at home with us – that was a very special thing. Gaucher simply became a normal part of our lives, and it has always kept our family very close.

The power of music

Over the years, music has helped me express my emotions and forced me to be creative. I saw how people’s entire state of being can change with just one song. If I hadn’t been diagnosed with Gaucher, I don’t know if I would have ended up working for a career in Music Therapy. I think my diagnosis has allowed me to have experiences that give me a different point of view and an added layer of understanding, which is important in my field. I can only hope that I can have a positive impact on the lives of children and their families. What I am most grateful for is that my parents made our lives as normal as possible. Now that I am pursuing my dreams and loving the life I live, I realize that family, music, and Gaucher have made me the person I am today. The post Virginia’s story: Family, music and Gaucher disease appeared first on Rare2Aware.
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