Both Julieta and Rob went through long, uncertain paths to receiving a correct diagnosis.
Julieta was born in 1987 outside a major city in Argentina. Very little information about glycogen storage disease (GSD) was available at the time. Her symptoms started when she was two months old: failure to thrive, hypoglycemia, and constant crying. Local pediatricians could not diagnose her, and she was referred to a nearby center, then another center in Buenos Aires, where she traveled several times before being diagnosed with GSD1a.
Rob was born in the 1970s in Canada, and for years, doctors were unsure what condition he had. “They thought I had some type of cancer.” Rob said that the care was unsatisfactory, “but to be fair, nobody really knew what [GSD] was.” Fortunately, Rob had a family connection to a physician in Dallas who was willing to take on his case. So, at age five, Rob and his family moved to the United States where he was soon diagnosed.
Many GSD patients often face diagnostic odysseys: long, complex, and frustrating journeys patients and families face while searching for an accurate diagnosis. Julieta says that these odysseys are unfortunately still common: “I feel that [the path to diagnosis] has improved a lot, but I don’t know if it’s at an optimal level.” She credits patient associations with giving families more access to information and resources today.
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Despite receiving a diagnosis in childhood, both Julieta and Rob continued to face the harsh realities of living with GSD1a well into early adulthood. Julieta, despite having ample support from her community, still experienced dangerous blood sugar crashes. A nearby doctor had to step in and save her life multiple times. Rob’s childhood was marked by repeated trips to the emergency room; he was clinically dead twice. Since then, their experience has improved through their own learned management, greater awareness of GSD1a in health care, and advances like continuous glucose monitors and commercial cornstarch treatments.
The research gap
When asked whether rare disease patients’ voices are adequately represented in research, Julieta and Rob offered differing perspectives. Julieta was cautiously optimistic: “I’m not sure if it’s good, but it’s getting better,” noting that representation has grown over the past five to ten years. She pointed out that pharmaceutical companies are becoming more involved in earlier-stage GSD research, partly in response to patient advocacy. Rob, meanwhile, was more pessimistic. He emphasized that rare disease research depends heavily on funding, and grants alone rarely provide enough: “Until there’s tons more money that’s poured in, there’s not a reason to keep doing research on it.”
Learning independence
If there is one quality that both Julieta and Rob thought was important for GSD patients to adopt, it is independence. Julieta said, “As a kid, I was told a lot of things I was not able to do.” Her physician said that she would never be able to live outside of her parents’ house; others said that she would not be able to leave the country or become a doctor. Yet, by age eighteen, she could take care of her own disease: She knew her cornstarch doses and developed self-awareness about when her blood sugar was dropping. Fast forward to today: She is a doctor who has traveled to fifteen countries.
As a kid, Rob and his parents assumed others would monitor his health for life, until his doctor pushed him to take control himself. That shift let him stop using a nasogastric tube for his cornstarch treatment and eventually live 800 miles from his family.
For both Julieta and Rob, independence isn’t just about self-sufficiency: It requires careful planning. Julieta emphasized that “planning and organizing our life as much as we can will make life more safe and productive.” Her approach can be summed up as “hope for the best, prepare for the worst.” When traveling, for example, she makes sure to have backup cornstarch and knowledge of the closest hospital, because “things can happen at any point.” For Julieta, this kind of preparedness is inseparable from independence itself.
Rob raised a related concern: Kids with GSD today may have less independence than he did, since parents are now more involved in day-to-day management. In his view, patients should learn to make daily adjustments themselves rather than relying on a parent or doctor for every decision.
Julieta and Rob’s stories show that diagnostic odysseys, slow but real progress in research, and the hard-won lesson of independence are often part of living with GSD1a. Julieta has also captured that journey in a mixed-media artwork mapping her life with the disease. As she put it, “Art is a way that we heal.”
Andrew Williams is a premedical student.
