What I Do - Gabriella Amaya
Meet Gabriella Amaya, a clinical research study participant at the NIH Clinical Center.
I live with a rare congenital bone disease called Ollier disease. It’s a skeletal disorder characterized by multiple enchondromas, a type of benign tumor. They primarily affect you in childhood as you’re growing. Enchondromas can make bones grow at a slower rate, leaving them shorter and deformed. My disease primarily affected one side of my body. However, it can be bilateral. It also has a sister disease called Maffucci syndrome. With both disorders there’s a significance chance of developing cancer, 30–50 percent for Ollier disease, over 50 percent for Maffucci syndrome. It can be bone-related, brain-related or ovarian. I’ve had ovarian cancer.
Both diseases involve mutation of the genes IDH1 and IDH2. There are so many unanswered questions. I was invited to participate in an NIH study led by Dr. Catherine Gordon at NIH and Dr. Nara Lygia de Macena Sobreira at Johns Hopkins. They’re trying to understand the genetic mechanisms behind the cartilage tumors and blood vessel abnormalities associated with Ollier disease and Maffucci syndrome.
My visit to the NIH Clinical Center took a lot of preparation. I had to go deep into my files to provide a lot of background on my medical history. My mom, she’s the bookkeeper of a lifetime. I’m so lucky. I spent a week at the Clinical Center. I had a lot of MRI imaging done, CT scans, PET scans, DTA, all this new and cool technology. Because Ollier is bone-related, DTA tells us the density of our bones. I got to see literally every professional under the sun—psychology, neurology, orthopedics, pulmonology, palliative care.
Growing up, the idea of participating in research was a lot scarier to me. You’re pricked and prodded your whole life when you have a disease like mine. I’m 27 now. I’m at a place where if I can offer more, I’m ready to do that. If I can offer anything that can change the outcome for someone later, then I feel like I owe it to them.
My experience at NIH was life changing. There was never one moment where someone didn’t ask me the question that needed to be asked. Someone wasn’t following up. Somebody wasn’t thinking more and thinking deeper. People really gave me their time. It gives me a lot of hope in the future. I have so much respect for the researchers at NIH, the doctors and scientists who dedicate their lives to work that takes a lifetime.
Gabriella Amaya, 27, is a Manhattan-based speech pathologist who helps children with autism build their language skills.
-Interview by Sean Markey. Photo courtesy Gabriella Amaya.