“Undiagnosed is a Diagnosis” by Gina and Ava Szajnuk
Welcome to the world of the unknown. My oldest daughter, Ava Szajnuk, is growing up so fast and her voice is so important for the next generation. In honor of Undiagnosed Rare Disease Day, we wanted to share her journey. We are so blessed to be working with incredible advocates around the world to raise awareness for the undiagnosed rare disease community.
#UndiagnosedDay
Hi. Here is our family. We like to say that we live in a diagnostic odyssey times four.
We have three children that have an undiagnosed rare disease process and I am also undiagnosed. Ava will be sharing her journey about what it is like to grow up having undiagnosed as her diagnosis. Before she begins. I just wanted to share some rare and undiagnosed statistics.
Rare disease afflicts 30 million Americans. Nearly 1 in 10 of your friends, family, and colleagues are living with a rare disease and half are children. Thirty percent of children with a rare disease will not live to see their 5th birthday. There are approximately 7,000 different types of rare diseases and disorders, with more being discovered each day. Eighty percent of rare diseases are genetic in origin, and thus, are present throughout a person’s life, even if symptoms do not immediately appear. Ninety five percent of all rare diseases do not have an approved drug treatment.
But why we are here today is to talk about the patients that have an undiagnosed rare disease?
I listened to Dr. Ryan Taft from Illumina speak at a Rare Disease Congressional Caucus briefing and found his statistics fascinating:
He explained that in the United States alone, there are an estimated 6 million patients with a genetic disease that are not diagnosed. This is a huge population and a huge burden on our health system. He called it a public health crisis.
He also said that 14% of patient visits are for undiagnosed genetic dysfunction but they are 46% of the cost for insurance companies. He explained that this brings the cost to the insurance company to an estimated 57 billion dollars per year!
34 – 71% of admissions are genetic disorders and 31 % of babies in the NICU have a genetic dysfunction.
I hope the statistics help you understand just how big this issue is and we hope you get inspired by our speakers here today. Ava, are you ready to do this?
Growing Up Undiagnosed
By Ava Szajnuk
April 27, 2018
Hi. My name is Ava Szajnuk. I am eleven years old and I have an undiagnosed rare disease. Some people ask, “Why do you hurt?” and I say, “If we knew that, I would already be cured.” Imagine it, like every normal person was a brilliant blue sky, and I, am a raging hurricane Harvey!”
I was born a healthy baby, and my parents waited their whole lives to have me. I was loving preschool and making lots of friends.
But then, when I was three years old, my mother found a mass in my brain, an arachnoid cyst. When I was five years old, I had many dramatic temperature changes, red hands and extreme fatigue. When I was five years old, I also hit my head playing with a babysitter. I went on a very scary and painful journey. Our doctors didn’t believe my mom, but my mom didn’t give up. If she would have, I would not be here today.
I hit my head on May 3, 2013. On May 10th, I had a MRI that showed my arachnoid cyst was stable. I was still having head splitting headaches every moment of the day and night. I couldn’t sleep at all. In June, they refused to give me another MRI. On June 13th, after another week of full-on pain, my mom went to different hospital, and they still refused to scan me! After a long time of pleading, they agreed to keep me a little longer in the ER to try to control my pain. During that time, I started to go blind, it is a long word but it is called papilledema. I eventually had a spinal tap and my pressure was 55, when normal is around 18.
My mom told me that she will never forget the look on the doctor’s face when he had to tell her that I had a Subdural hygroma and that I had to have surgery. She told me that she remembers when my dad came down the hall and she had to tell him that there was something very, very wrong with my brain. On June 14th, I had my first of four surgeries. I lived in Children’s Hospital of Wisconsin for over five-and-a-half weeks. The Subdural hygroma was giving me unusual fluid in one side of my head, and that was what was causing the pain.
The first surgery was an external drain for the fluid, so it would minimize the pain for some time, but not forever. Surgery #2 was another external drain for the other part of the fluid. But they can’t keep doing that over and over again, no matter how hard they try. Now the 3# surgery, totally different subject. They did a Cyst Fenestration, to try and get rid of my Arachnoid cyst. Hence, cyst fenestration. Now, the 4# surgery. This, by far, saved my life. What they were doing is putting a shunt on the left side of my skull. What the shunt does is it drains my fluid everyday so I don’t have any pain (in my head;). This was all over the course of my sixth birthday, that, unfortunately, I had to spend in the hospital. But, my birthday was June 4th and I got the best present in the world, a puppy. We named him Louie. He now lives with my Nana and Popo.
As my mom mentioned, she is undiagnosed. Hi Mom.
And, hi Lucy and Oskar.
They both have an undiagnosed rare disease too. Oskar struggles with an invisible disease process and also misses a lot of school.
We all try to persevere through our pain on a daily basis. When you cannot see it, it is hard for people to understand it and to believe it.
Recently, my doctor told me that I need to accept the extremely fatigue, painful hands and painful tummy ache as my new norm.
I have missed so many days of school this year and so many of my favorite activities. I had to quit the swim team as well as basketball.
I wish we had a magic pill that would make us feel better or maybe just a magic wand to take all of the pain away. I know people cannot see my pain and my tests come back normal or stable. However, I do not feel well and I want to fight for answers. We were blessed to have genetic testing through several different medical teams.
We had both whole exome sequencing and whole genome sequencing. We have had our family analyzed a total of nine times. We still did not find an answer, a treatment or a cure.
Here is a picture of our family that Dr. John Carey made of our family when we met with him a few years ago.
Over the past six years, we have been to eight hospitals in five different states. We have seen over fifty specialists. We still do not have answers for the root cause of our health concerns.
My message to you all here today is that we hope you go into genetics because it is only going to get more interesting as I grow up. We need more of you to help our undiagnosed rare disease patients like me find answers. Only then will we be able to start on the next chapter of our journey…finding a treatment and a cure.
I am honored to be standing here today still shunt dependent, and apparently undiagnosed is my diagnosis. I still have my daily pains and fatigue, but I’m still here! Speaking to you! Still alive. Thank you for listening to my journey.
Since every day is living in the unknown, we hope to share all of the speakers journeys in the days ahead!
Learn more about the event on April 27th at University of Utah School of Medicine’s Pediatric Medicine Interest Group Event
A special thank you to our moderator, Dr. John Carey and to all of our speakers that day that shared their journey to the University of Utah School of Medicine students. It was truly an honor. More to come!
A very special thank you to our hosts Andrew Carey, Leslie Denson and Claire Lu. We look forward to growing our program with you!
Thank you all for your continued support, love and prayers.
Much love,
Gina, Justin, Ava, Oskar and Lucy
Read about the Szajnuk’s Journey and their #RUNNBA Initiative
