By Kate R., MS, CGC
From a young age, 14 to be exact, I knew I wanted to work in the world of rare diseases as a genetic counselor. I was fascinated with all genetic concepts, but especially loved analyzing family histories while trying to put the genetic story together. About a decade later, that dream became a reality, and I started my first position as a pediatric genetic counselor at McGovern Medical School, University of Texas Health Science Center (UTHealth) at Houston.
I have always been an admirer of NORD and was fortunate to become involved in NORD’s Patient Education Working Group in April 2022, shortly after our institution was given the designation as a NORD Rare Disease Center of Excellence. There is an extensive lack of accessible, educational, and patient-friendly information for people in the rare disease community, and I quickly knew I wanted to spend time closing this gap.
Since then, I have authored five NORD Rare Disease Reports, all of which are inspired by patients I had in my neurogenetics clinic. Some of my patients go years without finding any patient-friendly information online and try their best to extract and decode medical literature to learn more about their rare disease. If I’m able to provide someone with a reliable and comprehensive resource for their disease through writing Rare Disease Reports, I consider it a huge success.
The largest impact of my volunteerism can be appreciated in both the Tuberous Sclerosis Complex (TSC) and Phenylketonuria (PKU) communities.
I’ve conducted research in the TSC community regarding mental health, family relationships, and reproductive health for the past seven years. Recently, I attended the Reproductive and Perinatal Health Workshop through the TSC Alliance to start discussions and develop research opportunities that will enhance the quality of care for pregnant persons with TSC and perinatal outcomes. UTHealth’s TSC Center of Excellence has clinic multiple times a month and sees hundreds of patients per year. Not only does this allow our entire clinical team to feel deeply connected to our patients, but it gives us the passion and enthusiasm to participate in research projects that may improve our patients’ lives.
My volunteerism in the PKU community is seen through my role as camp Director for Camp PHEver. Camp PHEver is a week-long camp for children with PKU and their unaffected siblings at Camp For All in Burton, Texas. At Camp PHEver, we design a low-protein menu for our campers to ensure they remain on their diet while they enjoy the traditional summer camp experience. Additionally, we host cooking classes and preparation of their medical formula built into the schedule, so the campers can start gaining confidence in their skills to care for their own disease. I run this camp each year with the help of my co-director, Megan Morand, our dietitians (Paige Roberts and Danielle Vice), sponsors, and a dedicated team of volunteers. We are so proud of Camp PHEver’s growth, as we consistently draw in 80+ campers each year from across the United States (and occasionally, internationally!). It is truly one of my favorite weeks of the year, and watching the campers grow and mature over the years is truly heartwarming.
The rare disease kids and families I meet through my volunteerism inspire me daily. They face barriers daily and still advocate to the best of their abilities for themselves and their loved ones. This motivates me to find ways to support them in their advocacy, whether it’s through research, social events, or publicly available patient-friendly information. I’m continuously humbled by the rare disease community, and working with them has made me a better person, genetic counselor, and friend.
Ready to make a difference? Sign up to volunteer with NORD today at rarediseases.org/volunteer-application.
