Update on our Szajnuk’s Diagnostic Odyssey x 4: This week was a very memorable week for our family. Our first meeting regarding the results from our Whole Genome Sequencing (WGS) was this past Friday, May 6th. We met with Dr. John Carey, a professor of Pediatrics at the University of Utah and our geneticist, along with our genetic counselor, Janice, from the Utah Genome Project. I will be explaining more about the results in a few weeks when we receive the final list of genes found through our WGS. However, what I can share today is that we found around fourteen new genes that we know nothing about!?! I am so overwhelmed by the generosity of the University of Utah and the Utah Genome Project for their continued support and care of our family. Dr. Lynn and Debbie Jorde accepted Dr. John Carey’s request to sequence our family of five, plus my parents, in hopes of finding a new Familial Autonomic Neuropathy gene or a Familial Pain Syndrome gene. They have all been extremely supportive and dedicated to finding a gene that could be causing the disease process in our family. There are so many people to thank on the Szajnuk Research Team. Please know that I am forever grateful to each and everyone of you!

Dr. Carey broke it down to me this way:

We have found around fourteen new genes that breakdown into the following two categories:

1) We know nothing about nine of the genes but they are in OMIN, which means we know something but no human disease. No one has studied them.

2) And, around five of the genes we know absolutely nothing about them and they are not even in OMIN

Dr. John Carey  stated, “We know the Szajnuk family has something.”  Carey said that the genome sequencing results have offered some clues but there is a lot more work to be done. For more on the Szajnuk’s Diagnostic Odyssey x 4 or watch Fox 13 News Interview on Undiagnosed Day from #UndiagnosedDay on April 29th.

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Another update on our journey is that we received the official news on Thursday evening that we have been accepted into the Undiagnosed Disease Network (UDN)  The relief and celebration came that night because they not only accepted Ava, they accepted all four of us individually!  Ava, Oskar, Lucy and Gina (me)! were all accepted into the UDN. Words cannot express how much this means to our family. The UDN will be collaborating with Dr. John Carey and the Utah Genome project. We will be traveling to Los Angeles to the UCLA Human Genetics (Undiagnosed Diseases Network) to have clinical care for all four of us at the same time. I am so very thankful to everyone involved in making the decision to accept all four of us!

“The UDN Case Review Committee met today and decided to accept Ava, Oskar, Lucy, and your applications into the Undiagnosed Diseases Network! I’ll be sending formal letters of acceptance to you and your referring physician by early next week, but I wanted to let you know ahead of time. -Matt”

When I asked my contact at the UDN if they have ever accepted a family of four, he said, “I don’t think we’ve had a family of four apply since we’ve launched in September.”  If you are an Undiagnosed family, please all apply individually!

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We also had Andrew Scholte accepted into the New York City Marathon this past week! Congrats!  Andrew is on the the Running4Rare team that came together for the first time as an independent entity working with the National Organization of Rare Disorders (NORD) and the Undiagnosed Diseases Network (UDN). Andrew is running for our family as well as all of the Rare and Undiagnosed community. This was a huge gift this week as well!

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Finally, Happy Mother’s Day to all of our mother’s out there in a Diagnostic Odyssey and living in the Unknown. Do not give up.

Perseverance. Perseverance. Perseverance.

As exhausting every single day is living in the unknown, you have no choice but to continue your quest for answers.

When we work together, we will change the path of our lives and the lives of our children.

There is a lot more to come for our family, our RUN families and the entire Rare and Undiagnosed Community!

It is an honor to be on this journey with all of you.

Thank you for your continued love, support and prayers.

Much love,

gina

Ava’s Mother’s Day gift to me today…

Dear My Mom,

Here’s a Happy Mother’s Day Video for you!

Thank you for teaching me the Golden Rule, “One should treat others as one would like others to treat oneself.”

Thank you for teaching me that your true friends are the ones that are happy for your successes. 

Thank you for teaching me that there is always a light at the end of the tunnel.

And, thank you for teaching me to always stay humble and kind. 

You inspire me to be the very best that I can be…

You inspire me to persevere during my darkest hours.

Thank you for your continued support of our family and my RUN family.

I love you with all of my heart.

Much love,

gina