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Aug. 7, 2015

TOPIC: Featured News, Advocacy

Rare Action™ Road Tour, Salt Lake City, UT

Posted by Heidi Ross


Greetings from Salt Lake City (Day 2),

As promised, I’m happy to introduce you to NORD’s State Ambassador for Utah, Gina Szajnuk. Say hello, Gina:

“I am the mother of three children with an undiagnosed genetic dysfunction. I am also undiagnosed. Our family lives in a diagnostic odyssey times four. Our journey to over eight hospitals in the last four years has taught us that things need to change for families living in the world of rare diseases and the world of the unknown.

My children and I have seen over fifty specialists and have had over five hundred appointments. Still, we do not have answers as to the root cause of our genetic dysfunction.
Our journey starts with my oldest, Ava. She almost died during the summer of 2013. Ava was born with an arachnoid cyst. She was scanned with routine MRIs annually. However, after her MRI in the spring of 2013, she started to have severe headaches. The doctors refused to rescan her. After six weeks of multiple ER visits as well as multiple appointments with several of the top neurologists and neurosurgeons in the Midwest, Ava still screamed like a wild animal in pain. We took her to a fourth hospital and refused to leave the ER. Ava suffered papilledema and had a spinal pressure of fifty-five – normal is between 10-20. The ER doctors finally listened to us and realized there was something wrong. Ava had a subdural hygroma, has since had four cranial surgeries and is now shunt-dependent.


Gina and family

After Ava’s time in the hospital, we continued to search for answers in regards to her genetic dysfunction. We fought our insurance company for over a year to approve whole genome sequencing, a powerful new technology that has helped shed light on many rare diseases, for our family of five. We were denied over and over. So we then fought for the next best thing, whole exome sequencing. We were denied that as well. We ended up getting approval for a “quint analysis” for Ava, where all of us were sequenced but only Ava was analyzed. They found three variants and then checked the rest of us for those three variants. Unfortunately, we did not find a solid answer.

We were blessed to work with an amazing team in Wisconsin for our whole exome sequencing journey. They allowed us to keep our data on a hard drive. The reality that we were able to acquire whole exome sequencing data in an industry crippled by privacy concerns was a huge step forward. We were able to take the data and have other geneticists analyze the data. However, we still do not have a solid answer. Our fight for whole genome sequencing to be approved by insurance companies will continue.

Previously, I worked in the entertainment world and Corporate America, as well as helped my husband build his NBA and European basketball sports agency. I eventually left the workforce to be a stay-at-home mom. It was my dream to stay home and raise my children. After experiencing first hand all the struggles a family suffering from a rare disease can endure, I decided to take action and I became an advocate for the rare community to help other families.

I started the Rare and Undiagnosed Network (RUN) with Dr. Reid Robison of Tute Genomics during the summer of 2014. RUN has become a platform for other families living in the world of rare diseases and the world of the unknown. We have brought families together through this platform. They now have a voice. Our dream is to bring everyone together in the rare community to make a change. RUN is a grassroots organization with a lofty mission.
My husband, Justin Zanik, is the Assistant GM of the NBA Utah Jazz. Through his blessed position with the Jazz, we have been able to provide an experience for families. We have been able to bring joy to many children living with a rare disease.

I feel honored to be asked to be the Utah State Ambassador for NORD. I look forward to working with NORD as well as all of the State Ambassadors. I also look forward to working with all of the amazing Advocates within the state of Utah. I have already met so many strong families here in Utah through my work on Utah Rare last February. Together we can make change. Thank you for this very blessed opportunity.”

Join the road trip on twitter with #RareAction

Want to learn more about the Rare Action Network™ and how you can join?  Visit us on our website here.

About Tim Boyd

Tim is NORD’s Associate Director of State Policy. He lives and works in Washington, D.C. Feel free to reach out to Tim at [email protected] or at (202) 545-3830.