Gina Szajnuk: “August 6, 2015, was a day I will never forget. My family had their blood drawn for whole genome sequencing. This is something we have been working on for a very long time and feel very blessed to have this opportunity to find answers for our three children, as well as for myself. We were even able to sequence both of my parents from Wisconsin.

Dr. Lynn Jorde

Dr. John Carey

Victoria Davison

Amy Davis

Kyle Berg

Breanna Caruso

Kirsten Stewart

Julie Kiefer

Charlie Ehlert

If I look back at the past several years, I might start crying.

I always ask myself the same questions: “Why did it take so long for whole genome and whole exome sequencing to exist?”; “How many other families are living the diagnostic odyssey like ours?”

I know there are many. One in ten are rare. Again, this is the statistic we keep saying. Well, one in ten is a lot. How many mothers cry themselves to sleep at night because they do not know what to do next to help their child? How many mothers stare at themselves in the mirror and say, “I don’t think I can do this anymore. What did I do wrong? How can we go on like this…with no answers?”

BUT, we all do it. We all stop our tears and get up the next morning and care for our rare child. It was our dream to have children. It was our gift from God to have a child. And now, it comes down to science.

I recently read a book referred to me by, Dr. John Carey. The Language of God by Francis S. Collins. I was intrigued in the very beginning. In the introduction, it is written…

“It is a happy day for the world. It is humbling for me, and awe-inspiring, to realize that we have caught the first glimpse of our own instruction book, previously known only to God.” – Francis S. Collins, The Language of God

We are now truly in the right place at the right time for finding answers for our children. We are on the forefront of science!

Although there is the possibility that we will not find answers through our whole genome sequencing, we know that we have done everything possible for our children. We did not give up. We fought and persevered. Thankfully, the Utah Genome Project heard our prayers.

This blessed opportunity came from sharing our story and through bringing people together in the rare community. I owe this opportunity to a very special person, Cristina Might, NGLY1.

My journey with RUN started with Dr. Reid Robison, CEO of Tute Genomics.  Reid is my Co-founder of RUN. He introduced me to Season Atwater, Aware of Angels. Season introduced me to Cristina. We all worked together on Utah Rare this past February. Cristina is well connected in the rare community and told Amy and Victoria about our family. It was through networking and sharing our story that allowed for our family to receive whole genome sequencing. Thank you to Dr. John Carey as well for supporting the decision to accept our family.

Building a strong network with everyone in the rare community is so important. We all need to work together to help the rare families. 

Thank you all for your continued support, love and prayers for our family.

Our journey continues…

Much love,

Gina

About Gina:

Gina Szajnuk was born and raised in Madison, Wisconsin and moved to Salt Lake City, UT, where she serves as the Co-founder and Executive Director for the Rare Undiagnosed Network (RUN). Her three beautiful children, each of whom live with a rare and undiagnosed disease, continue to inspire and motivate her as she fights for clinical whole genome sequencing to be covered by insurance companies. Gina is also the Utah State Ambassador for NORD (National Organization for Rare Diseases). She works on the Executive Committee for Utah Rare. She is on the Program Committee for the National Ability Center.