This is a special time of year for holiday fun. This is a time for making gingerbread houses with your classmates and attending your children’s holiday concerts. Unfortunately, we will miss those holiday activities next week. As most people are running around holiday shopping and preparing for Christmas, our family will be praying for a Christmas Miracle – a diagnosis, treatment & cure. We leave for our Undiagnosed Diseases Network (UDN) visit this Sunday, December 11th. We have been waiting months for our UDN visit. We will be flying to Los Angeles to meet with their UCLA Human Genetics team. We feel so very blessed to have been accepted as we know there are families that have not been accepted.

We have had so many different medical teams and researchers across the country working on our family over the last few years. We have truly been blessed to work with each and every single one of them. They have dedicated so much time and energy into trying to solve our medical mystery times four – Ava, Oskar, Lucy and me. This has been such an emotional and physical journey with major financial consequences. We owe so much to everyone that has supported us within the medical community, our family, our friends and everyone within the rare community.

It is so hard to watch from the outside all of the blessed healthy families and not have some kind of sadness in my heart as that was just not our path. Our path is pain. We live in pain every single day. We know we are blessed to still have our children alive and for me to be able to continue to fight for all of us. However, I am tired. I am really, really tired of the fight. I want the fight to be over and to live happily ever after. I want a Christmas Miracle – a diagnosis, treatment & cure.

When I went back to make our holiday card, I went through all of our pictures this past year. I see the happy pictures, which I used on our card. However, I had to go through the hundreds of medical pictures that I took along the way this year as well. As I look at my three beautiful children, I see their strength and their perseverance. When I look in the mirror. I see my failure. I see my failure as a mother for not being able to fix my children’s pain.

This trip is another round of hope. This trip is another round of trying to find answers.  We can only pray for this new team to find something that all of the other incredible teams have not yet found. We have been working with the best of the very best for the past few years. We are even working with a new team here at the Children’s Hospital of Wisconsin. They are on the case too. They are incredible and working long hours to catch up on what they missed the past three years while we lived in Utah and since they saved Ava’s life during the summer of 2013. We are still working with the University of Utah Hospital, Intermountain Primary Children’s Hospital and the Utah Genome Project. We are working with MyGene2 and the University of Washington Center for Mendelian Genomics (UW-CMG). We have an absolutely incredible group of brilliant doctors and researchers. It is time to find answers.

I want a Christmas Miracle – a diagnosis, treatment & cure.

For more information on The Szajnuk Journey 

To apply to the Undiagnosed Diseases Network (UDN)

About the Undiagnosed Diseases Network (UDN)

The Undiagnosed Diseases Network (UDN) is a research study that is funded by the National Institutes of Health Common Fund . Its purpose is to bring together clinical and research experts from across the United States to solve the most challenging medical mysteries using advanced technologies.

Through this study, we hope to both help individual patients and families and contribute to the understanding of how the human body works.