Gina Szjanuk and her three children have been on a diagnostic odyssey for more than nine years that sent them on a search for answers meeting with a slate of specialists across ten different medical institutions, protracted hospital stays, and genomic sequencing. Nevertheless, their search for a name to put to the condition continues.
Szjanuk, co-founder and executive director of the Rare and Undiagnosed Network (RUN), and her children share a constellation of symptoms that have been called an undiagnosed autonomic neuropathy. Her determination to get a diagnosis began in earnest when a neurologist told her that she’d never get a diagnosis for her daughter and that all they would be able to do would be to treat her symptoms. “I wasn’t going to accept that,” she said.
Cristina Might also knows the diagnostic odyssey. Her son Bertrand, who died in 2020 at the age of 12, was the first person to be diagnosed with NGLY1 deficiency, a rare neurodegenerative condition. That diagnosis came only after traveling around the country to several top medical institutions and being among the first patients to have clinical whole-exome sequencing. Might today is acting executive director of the patient advocacy organization the Undiagnosed Diseases Network Foundation (UDNF), a new advocacy organization seeking to build bridges between academics, clinicians, researchers, industry, policymakers, and other patient groups.
To raise awareness about issues people with an undiagnosed rare disease face, Szajnuk and Might’s organizations are promoting Undiagnosed Rare Disease Day on April 29, an annual day of events and social media activity designed to raise awareness of what people with undiagnosed conditions face. In addition, they have entered a new collaboration with the global data-sharing platform RARE-X to help people with undiagnosed conditions drive research and find potential treatments by creating a way to share their de-identified health data with researchers.
“What it gives me and our family and all the families that are undiagnosed, or rare, is just to have that collaboration and not feel like you’re at a dead-end and not to be that word we use over and over again—siloed,” said Szajnuk. “It’s opening this whole new world to these patients and people and families that there’s going to be this world of collaboration. And that gives me a lot of hope.”
Szajnuk, who notes that she and her kids have their health data spread across multiple medical institutions, said she believes by sharing their data, they will be able to advance their understanding of their condition and also help the greater good for the next generations to come. “By using RARE-X to share your data, there’s an actual contribution for the future, but you are also playing an active role.”
Nicole Boice, founder and executive director of RARE-X, said there’s a natural opportunity for RARE-X to support undiagnosed patients with a platform that’s easy to use, disease agnostic, and can look cross indications to find commonalities that can provide unexpected insights.
“To have these undiagnosed patients sitting alongside diagnosed patients in different disease communities allows researchers to come in and search by phenotype to start finding correlations, identifying new patients and diseases,” she said. “This approach is what many people have talked about when discussing cross-disease research. We have the ability to stand up research-grade, research-ready, patient-reported, real-world evidence.”
Might noted that the Undiagnosed Disease Network Foundation, which is aligned with the Undiagnosed Disease Network, a research study funded by the National Institutes of Health involving a dozen medical research institutions that already has a significant collection of patient data of undiagnosed patients and patients diagnosed through the study. The foundation will be working with program participants to get that data incorporated with the RARE-X platform.
“That’s one of the things that we’re really excited about with our partnership with RARE-X,” said Might. “That is a possibility that we would like to offer to all patients and their families.”
To learn more about RUN, UDNF, and Undiagnosed Disease Day, listen to the RARECAST podcast featuring Gina, Cristina, and Daniel Levine.