When my family and I moved to Birmingham, Alabama, in the summer of 2010, my little sister of six years, was able to walk with near independence. Little did I know that she had entered stage three of Rett Syndrome, a debilitating regressive developmental disorder affecting one in every ten thousand girls globally. All I understood at this tender age of ten years was that she had lost the ability to speak and needed supervision, but in her eyes, she expressed a profuse sadness, signaling moments of gastrointestinal pain, sudden anxiety, and loneliness in her feelings. The window into our relationship together had not yet been formed, and there was still much I had to understand in order to live alongside her as a friend and loving sister.
Ever since those years, I have tried to merge my academic passions and personal motivations. When my mother had revealed my sister’s Rett Syndrome diagnosis to me in 2016, I began listening to genetic lectures and became inspired by the impact of researchers like Dr. Huda Zoghbi, resilience of families enrolling in clinical trials, and their collaboration for discovering the cure to Rett Syndrome by finding the causative gene, MECP2. My four-year studies in chemistry and biology opened new portals for my future, enabling me to pursue my passion. Reading about the reversal of Rett Syndrome symptoms in laboratory mice sparked my interest in molecular genetics.
I have had the fortune of knowing Dr. Alan Percy for several years, first as my sister’s caring neurologist at the Civitan International Research Center, and secondly, as one of the world’s best leading experts for Rett Syndrome care, working at the heart of the Civitan International Research Center’s goals.
At the Rett Syndrome Clinic, I have learned so much—including not only the true necessity for research but also the challenges that major research trials present scientists in complex, rare genetic disorders such as Rett Syndrome. At the same time, while collecting data for my project, I realized how difficult Rett Syndrome can truly be for families with more severe conditions and forms of the disease. Although I am not a physician yet, I can only imagine the heartbreaking conditions that clinicians must see during visits and record in the natural history studies, only able to tell half of the story of severity that continues at home and the memory of the clinic. It is always devastating to read certain data, with clinical severity scores so high and seizures so frequent, but it deepens my desire to dive deeper into my genetic understanding of Rett Syndrome and the expression of the MECP2 gene contributing to the disease severity.