Rare and Undiagnosed Network
By Keely Valdez

A once healthy child who may have done sports or stayed active, had a great sense of humor, or who was a go-getter, has fallen ill. Doctors are scrambling to find a cause, parents are doing overtime in hospitals, siblings are wondering why this had to happen or wondering what’s happening.  Soon enough, routine hospital visits are becoming more frequent and soon the patients’ hope and positivity are gone. They put a fake smile on and pretend that the thought of death hasn’t crossed their mind. They’re scared of what is to come, both the patient and their parents.

The RUN Community or Rare and Undiagnosed Network is a newer community of children and families who have a rare and undiagnosed disease. There’s a select few children who don’t even know what they have and have to go through an endless number of tests. That’s the reason why this network was created, to raise awareness for these children who have to go through a tough time.

On the Run website, there’s a lot of stories about the children, how they were diagnosed, and what they were diagnosed with. One story that sticks out the most is the story of the three siblings who were all born with some sort of rare disease. Ava Szajnuk, being the eldest of the three, has either Autonomic Neuropathy or small fiber Polyneuropathy at the age of nine. Autonomic neuropathy is damage to the autonomic nerves and greatly affects the involuntary nerves in the system. Polyneuropathy is damage to the peripheral nerves.  No doctor knows for sure but it is known that she is in pain daily and has to go through a number of treatments.

Gina Szajnuk, Co-Founder and Executive Director of the RUN, is the mother of the three siblings. She and her children have had to go through a number of tests in the last three years. “This is a horrible way to live life. Ava spent her 5th and 6th birthday in the hospital. She still has nightmares from her five weeks in the hospital as well as her four cranial surgeries.”

Szajnuk, “As a mother, it is heartbreaking to tell them, ‘I’m so sorry. I do not know what to do.”

The next in line is Oskar Szajnuk. He has the same condition as his older sister but with a little twist. On his description, it states that Oskar is extremely low in ferritins, that help set off dopamine, that helps set off his epinephrine levels. He sometimes has a hard time walking, has a hard time digesting his food, and has difficulties breathing through his nasal passage. There is currently no treatment for Oskar.

The littlest of the three is Lucy Szajnuk whom has autonomic neuropathy and small fiber polyneuropathy like her older siblings. Lucy also has restless leg syndrome and central sleep apnea. She experiences pain in her legs, feet, fingers, etc. On top of her other conditions, she also has a heat and cold intolerance. For her circumstance, she has undergone multiple tests in over five hospitals.

Jessica Rojas, a sophomore, would like to inform people and raise awareness for this community.

“It’s important that we learn more about people in our society that need our help,” said Rojas.

These three children and others stated on the website aren’t officially diagnosed but instead have ‘suggested’ diagnoses. They’re constantly in a state of the unknown and almost all of them have constant pain and a few of them have new symptoms come up, making their lives even more challenging and unbearable. Every day presents a new problem or predicament and every day they’re battling to live a normal, healthy life. The medical staffs are having a hard time with telling the parents as to what they can do for their child.

Szajnuk said, “There needs to be change in how the rare and undiagnosed children are treated in a diagnostic odyssey. There needs to be a plan in place with the medical system to deal with children like Ava, Oskar, Lucy, and Harlie.“