#RUN2U 2019: Challenges of Living with a Rare or Undiagnosed Disease

Ava Szajnuk has spent eight of her eleven years living in the unknown. A disease keeps her in constant pain and fatigue. You can’t see that she is sick, as she appears to be an average eleven-year-old girl. Her disease is chronic and invisible as well as rare and undiagnosed. As Ava puts it, she does not “fit in any box in the history of medicine.”

Ava and several others who have dealt closely with rare and undiagnosed diseases were featured at the annual #RUN2U event, a patient panel aimed at shedding light on their experiences by sharing them with future health care providers. The auditorium filled quickly with University of Utah medical students, eager to hear from the panelists gathered by the Rare and Undiagnosed Network (RUN) in conjunction with the U School of Medicine’s Pediatric Interest Group.

A fluid-filled brain cyst, otherwise known as an arachnoid cyst, began Ava’s journey at age three. Since then, she has visited over nine different medical institutions, undergone four brain surgeries and various diagnostic procedures, and has eluded death on many occasions. Through it all, Ava has kept her composure. “I can either be mad at the world, or go with the flow,” she emphasized. “I am persevering, I am not going to give into my disease process.”

It is evident that this theme of determination runs in the family. Ava’s mother, Gina Szajnuk, is the co-creator and co-founder of RUN, which consists of advocates, patients, families, researchers and health care providers with a common goal of helping undiagnosed patients better understand and live with their conditions.

Gina herself struggles with an underlying undiagnosed disease, along with her two other children. She explained that RUN began first as a cry for help and search for answers for her own family, and has since evolved into building a network for all families battling rare and undiagnosed diseases. “These events mean everything to us and to RUN, especially when we are able to educate current and future doctors on the importance of visibility in the rare and undiagnosed disease community.”

Beyond visibility, panelists urged the audience of health care providers to consider the importance of future genetic discoveries. It is estimated that 80% of rare diseases are genetic, meaning that the mutations or defects in genes have been inherited. This shows the pertinent need for health care providers to push for these discoveries.

Programs like U of U Health’s Penelope Program and the Center for Genomic Medicine are already making a difference in developing novel and effective ways to diagnose and treat rare and undiagnosed diseases. But with an estimated 25-30 million Americans living with a rare disease, there is a lot of work that remains to be done.

Gina describes the future of genetics as waiting for twenty-plus years of science to further understand the algorithms involved in her multiple disease processes. “Connecting with doctors like this is inspiring,” Gina related to the audience. “You have no idea how much we need you.”

These events and networks, however impactful, do not take away from the severity of the diseases. Individuals may spend their entire lives bouncing from doctor to doctor looking for an answer. Many of the panel speakers recounted times when schools or even doctors would not believe them or their symptoms. These stories struck a cord with many of the audience members.

Towards the end of the panel, the medical students in the room asked questions, particularly surrounding how they could help patients in these positions. Ava recounted that they needed to treat rare and undiagnosed patients with compassion, looking beyond the symptoms to fully understand the person sitting in front of them.

One student asked how health care providers could attempt to instill and maintain hope within the patients and their families while still looking at the reality of the situation. Dr. John Carey, the faculty facilitator, stepped in to mention the delicate balance between realism and hope. “Never take away hope in a very serious situation,” he urged. “While hope can oftentimes shift, there is a magic in not taking it away.”  

About the Author:

Chloe Wilcox

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