2013: Oskar Szajnuk was diagnosed at the age of four with an unknown genetic dysfunction, an autonomic neuropathy, small fiber polyneuropathy.

He is extremely low in ferritins, which sets off his dopamine, which sets off his epinephrine levels. He has epinephrine levels so high that doctors do not believe the test results. He is heat intolerant and cold intolerant. He does not sweat on his limbs. At times, he cannot walk. He has digestion problems that make him not want to eat very often. He has extreme difficulty breathing through his nasal passage. There is currently no treatment for Oskar. He lives in the world of the unknown. Oskar is extremely smart and funny. He loves his sisters very much. You can read more about Oskar’s journey in Ava’s profile.

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This is a section of Oskar’s story from The Szajnuk’s Journey

After finding out Ava had an arachnoid cyst, Oskar starting having issues. We had a work up done in Chicago for fatigue, leg pain, low-grade fever, and many other symptoms.  Oskar started in infectious diseases. They sent us to at least five other specialties. We ended up in oncology. The fear was leukemia. When it wasn’t leukemia, they were at a dead end. I remember the doctor telling me after months of tests on Oskar and many appointments that they just did not know what to do next. When I mentioned that we were told that Ava had an autonomic neuropathy, the infectious disease specialist said, “Well, I would follow that trail with Oskar. We have no idea what to do next. I would go to Mayo with Oskar.”

We went back to the Mayo Clinic now with both Oskar and Ava, where she was currently being treated for her autonomic neuropathy. During the visit with Dr. Fischer, he was even more fascinated that there were two of them. Oskar even had epinephrine levels so high that the NIH did not know what to make of it. We spent more time traveling six hours each way in the car and staying in hotels for yet another workup on Oskar.

It always comes back to Ava. With Ava’s trauma, we were off the trail for Oskar for about a year. I feel deeply guilty for stopping Oskar’s fight for answers. I didn’t have a choice at the time. I had to focus on Ava. When we moved to Utah and I started back up to find answers for Oskar, I was confronted by a specialist. She scolded me for grouping the kids together. She told me that Oskar and Lucy need to be looked at without talking about Ava. How was I to explain why I stopped appointments for Oskar without telling Ava’s story? Of course, she made me cry. She was right. I have to focus on Oskar now. I have to focus on Ava and on Oskar. Oskar is diagnosed with an Undiagnosed genetic dysfunction. An unknown autonomic neuropathy. He has had countless exams, procedures and still no answers. We treat his symptoms as best as we can. He definitely has a motility disorder, unexplained fatigue, temperature intolerance and many more issues. Oskar lives with pain and fatigue every single day like Ava but he continues to be a sweet and funny little boy. Oskar missed over fifty percent of his 1st & 2nd grade year due to his pain. He is currently attending a little more school this year as he is learning he needs to push through his pain.

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Learn More about #UndiagnosedDay, Undiagnosed Rare  Disease Day

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ABOUT RUN

RUN stands for the Rare & Undiagnosed Network. We’re a group of advocates, patients, families, researchers, and healthcare providers who share the same mission and vision: To empower rare and undiagnosed patients and their families with genomic information and community through advocacy, networking and support.

Contact information:
Gina Szajnuk (Zanik)
Co-founder and Executive Director
E: ginaszajnuk@gmail.com
C: (310) 883-4353
To Read: “What is the hardest part of being undiagnosed?” by Gina Szajnuk
To Read: “Undiagnosed is a Diagnosis” by Ava and Gina Szajnuk
To Read: The Szajnuk Journey

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