A Student’s Perspective Researching at the Civitan International Research Center

By Lourdes Marie Rodriguez

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.

At the Civitan International Research Center, I have experienced research beside a window to the Rett Syndrome Clinic’s excellent clinical trial work, standard of care provided to patients during appointments, outreach to a broader base of patients through international traveling clinics, educational engagements within and outside of Birmingham, and investigative collaborations with clinics and centers all around the country. The Civitan International Research Center has a real mission of treatment, an intrinsic spirit of impact, and an expertise of compassion that drives its excellence in serving the community.

Several revisions to my research for Rett Syndrome have defined my first-year project, and I have entered a multi-departmental project for Rett Syndrome since my first year. The overarching purpose of my research for these two years has been to identify the potential relationship between type and frequency of seizures, patient clinical severity and specific MECP2 mutations affecting patients with Rett Syndrome. Identifying which populations of children with Rett Syndrome have the highest risk of seizures by type and frequency and the highest risk of clinical severity is key to implementing prophylactic intervention and pharmacological treatment.

As a student entering the University of Chicago in 2020, I aim to continue my research into Rett Syndrome and volunteer in a clinic that strives to benefit children with severe conditions. In academia, my hope in research is to understand this X-linked disease on a biomolecular level and research for a cure in pharmacological basic science or in epigenetic expression through molecular engineering. My goal is to one day become an MD/PhD pediatrician and accumulate the ability to care for children with the excellence, understanding, and compassion that the scientists and pediatric clinicians at the Civitan International Research Center have possessed in caring for my sister. As of this moment, my dream within research in the future is to decipher principle biomolecular causes for variability in X-chromosome expression, which I hope will benefit patients of genetic diseases including Rett Syndrome, its related disorders, and even X-linked disorders outside the Autism Spectrum. The Civitan International Research Center has taught me that making a difference is possible with diligent effort, an optimistic perspective, and our personal interaction with the individuals we serve.

It is 2020. My little sister is walks with the support of two individuals, but she smiles brighter each day. While she has entered stage four of Rett Syndrome characterized by a plateau in her regression, her expressive communication is better than ever. She understands that the people who love her and support her are all around in her community. People believe in the mission of research, the spirit of Civitan, and the lives we can benefit together.