(From left) Paul Kruszka, MD, Matthew Snyder, MD, Anna Jesus, MD, and Rebecca Scharf, MD
In honor of Rare Disease Awareness Day that occurs the last day of February each year, UVA medical students organized a Rare Disease Day Panel to provide interested students an opportunity to learn more about how rare diseases impact patients and the ways physicians approach treatment. The student organizers represented the Rare Disease and Medical Genetics Clubs, two medical student organizations whose areas of focus overlap significantly in their quest to learn more about diagnosis and treatment of rare disease.
Department of Pediatrics faculty Paul Kruszka, MD, Clinical Genetics, Matthew Snyder, MD, Clinical Biochemical Genetics, and Anna Jesus, MD, and Rebecca Scharf, MD, in the Developmental-Behavioral Pediatrics Clinic, were panel participants invited to share their expertise in treating rare diseases and current research.
Medical students listening to the panel discussion on rare diseases.
Student questions focused on how to approach conversations with families receiving a new rare disease diagnosis and how to guide them through that process with compassion and empathy. A key theme was the importance of recognizing the unique challenges that families facing rare diseases encounter, particularly when it comes to limited treatment options and the overall lack of general medical knowledge about their condition. When a patient is only 1 in 600 individuals with a medical condition, resources are often scarce. In these situations, the physician’s role extends beyond providing medical care; it also involves serving as an advocate to help families navigate the healthcare system and secure the best possible care for their family member.
A memorable moment at the event included a discussion with a patient family who has experienced a rare disease diagnosis. The family talked about how an intern ordered a test in the NICU that dramatically altered their baby’s disease course. From there, they shared candidly how they have navigated a challenging diagnosis emotionally, financially, and socially with friends and family. This conversation highlighted the nuance of caring for rare diseases outside of the hospital, when it goes from “all eyes on your baby” in the ICU to parents doing their best to do the same at home.
Why Events Focused on Rare Diseases Matter
Rare diseases are frequently misdiagnosed or diagnosed late. Furthermore, there are often limited treatments due to a lack of research. Events highlighting rare diseases, like our Rare Disease Day Panel, bring awareness and offer collaboration between medical providers, researchers, and students. Most importantly, it serves as a platform for patients and families to advocate for themselves and share their personal stories; they know their rare disease best.
Individual rare diseases are defined as affecting fewer than 200,000 people in the U.S. each; but they collectively affect thirty million people in the U.S. alone. That’s roughly one in every ten people. While approximately 30 million people in the United States live with rare diseases, more than 90% of these conditions still lack effective treatments. In recent years, there have been several notable technological advancements, such as gene therapies, which have advanced rare disease research and drug discovery.
Although some therapies now exist, significant challenges persist in diagnosis, treatment development, and accessibility. Projects like “All of Us” (from the National Institutes of Health) and the Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium have shared data that has made research on large, diverse populations possible. Broader genetic profiling of populations will empower better characterization of Rare Disease for conditions for which little background is known and will help to better define causal mechanisms for therapeutic interventions.
Hope for the Future
Significant advances in genomic technology have dramatically reduced the cost of sequencing while improving the quality and depth of data obtained through genetic profiling. As a result, there is growing hope that more institutions will move toward adopting genome sequencing as a standard component of neonatal screening, rather than relying solely on targeted panels that may not capture the full spectrum of conditions a newborn could present within the first days of life. Expanding this approach could reduce the number of patients with rare diseases who are missed early and subsequently receive delayed diagnoses.
Additionally, for time-sensitive conditions, continued development of improved prenatal screening tools could allow for earlier identification before birth. Earlier detection would enable more rapid initiation of treatment in the postnatal period, ultimately improving outcomes for affected infants.
Filed Under: Education