By Brittany Andrea, VI Form
I found myself sitting in yet another doctor’s office, surrounded by white walls. Illuminating the bleak room was a large window and a fluorescent light in the ceiling. My brother’s doctor spoke in a monotonous, fluid voice. Listening to the concepts he described were confusing, amazing, and yet captivating. It was in this moment that I was struck with a passion.
My brother Michael has seen the inside of medical offices all of his life. I typically went with him, my sister, and my mom. He was always different from other kids his age; he learned sign language because he wouldn’t talk until he was four.My sister and I learned it with our parents so we could talk to him. He went to a special education pre-school. His specialists and therapists all suggested he see a geneticist, as they thought he had Autism. After initially ruling out Autism and then presenting a series of diagnoses, it still wasn’t clear what Michael’s main problem was. He was epileptic, had ADHD, facial deformities, and had no depth perception. Another aspect of my brother’s complication was perplexing: my mom had the same deletion of the gene that my brother had, but she exhibits no symptoms or deficiencies. My brother’s geneticist, Dr. Murr ay Finegold, explained to me that this phenomenon was fairly common. It puzzled doctors and geneticists around Massachusetts, and eventually the Northeast, as to what his condition was. After 13 years of conventions, tests, and meetings, there was finally a name to the disorder: Rubenstein Taybi Syndrome. The diagnosis was a breakthrough, yet the path leading to this conclusion and from it afterwards was truly fascinating to me.
Sitting in on the doctors’ visits initially sparked my interest in genetics. The doctor would say something, I would piece together its meaning, and then try to get back up to speed with what they had said while I was playing with the puzzle pieces. Last year, I took AP Biology and had a chance to understand on a more complex level what was actually going on within my brother’s cells and DNA. It was astounding that something so small, such as a single mutation, could have such a significant impact on someone. I had seen firsthand the consequences mutations can have on cognitive function, physical development, and learning dysfunction. Although the material I learned in biology junior year solidified my interest, my early experiences with my brother initially intrigued me to further my knowledge.
My familiarity and expertise in the field has grown significantly and my goals for the next several years are clearer. Between my academic coursework and having Dr. Finegold as a mentor this past summer, I have been able to set short-term coursework and long-term career goals. I also know myself more than I could have ever imagined; I have seen myself mature into a person I am proud to be. My experiences in my young life involving my brother have shown me that I want a career in service to others and I know I have the ability to serve them in the best way that I can. My passion for genetic counseling was instilled in me when I was young. I will have a personal connection to each patient I encounter because I have been where they will be; I know what it’s like to not know what is debilitating a loved one. From my experience, I also know that anything I can provide to their journey will be empowering. Any contribution, even if it’s small, could mean the world to a patient struggling with an undiagnosed disease. I want to use my passion and personal connection to drive myself to serve and provide for others in whatever way I can. I appreciated it when doctors did this for me and I know I am capable of caring for others through a passion for genetics.