Undiagnosed, isolated, and searching for answers

Undiagnosed, isolated, and searching for answers

By Stephanie Wykstra, a freelance writer and research consultant for AllTrials USA.

Gina Szajnuk and Justin Zanik discovered a bump on their oldest child Ava’s head in 2009, when she was three years old. A neurologist determined that the bump was a non-life-threatening cyst, and warned against Ava playing sports that could cause an impact to the head. At the time, the bump seemed no more than an unexpected challenge. But this was just the beginning of a long journey to find a diagnosis.

Over the next few years, Ava started having other symptoms such as rashes and painful headaches, which kept her awake and crying at night. “It can be extremely isolating to hear from specialist after specialist that there’s no clear diagnosis,” Gina said of the all-consuming quest to find out what was wrong.

As Justin and Gina went in search for answers for Ava, their two other children starting suffering from similar symptoms. Gina too began visiting specialists for her own medical issues – she had been experiencing joint pain, temperature sensitivity, and inflammation of the esophagus.

Gina was able to treat her inflammation (Eosinophilic esophagitis) by participating in a clinical trial. A doctor she had been seeing for her condition, who also happened to be one of the trial’s principal investigators (or leaders), gave her a referral. During the trial, she began to see her symptoms recede.

“I think  transparency on all  levels is crucial.”

But her children continued to suffer, and as time went on, the evidence was piling up that the issue might be a genetic one. This led Gina to co-found the Rare and Undiagnosed Network (RUN). This was her chance to bring together families who were experiencing struggles much like her own. “It was a dream for my children to know other children similar to them so they did not feel so alone in life,” she said.

The family took solace – as well as inspiration – from learning the stories of other families, like the Mights. So in 2016, when the Utah Genome Project, an initiative aimed at discovering genetic correlates of disease, decided to cover the costs for seven members of the family to have whole genome sequencing done, they jumped at the chance. Having the whole genome sequenced could potentially help with their diagnosis.

To inch even closer toward a diagnosis and eventually finding a cure, Gina and her family were accepted into the Undiagnosed Diseases Network, a National Institutes of Health (NIH) study, in mid-2016. The goal of the study, as described by NIH, is to “bring together clinical and research experts from across the United States to solve the most challenging medical mysteries using advanced technologies.”

Gina would like to get her family’s genomic datasets in front of as many researchers as possible, so that they can work on the analysis. “I’ll throw our data out to the world if I can, and most families [with undiagnosed genetic disorders] would do that in a heartbeat,” she said. To help other families do so, Gina co-founded RUNmyDNA.com, a new site for patients with rare and undiagnosed diseases to share information (including genomic data). As the family continues on their arduous journey to diagnosis, one thing Gina cannot stress enough is the importance of and need for full transparency (knowing what research is being done and what the results are): “I think transparency on all levels is crucial.”

Gina Szajnuk is an Undiagnosed Advocacy Ambassador for the National Organization for Rare Disorders (NORD). February 28 of every year is World Rare Disease Day. This year, RUN will host several events, including a couple as part of its NBA Initiative in order to raise awareness for those with rare and undiagnosed conditions. Find a complete list of RUN’s events here: rareundiagnosed.org/rare-disease-week.

RUN supports the AllTrials initiative calling for all clinical trials to be registered and their results reported.

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