UNDIAGNOSED RARE DISEASE
I am the mother of three children that suffer from an undiagnosed rare disease.
I am undiagnosed as well. We live in the world of the unknown.
We live in a diagnostic odyssey, times four.
In 1973, I was born healthy in Madison, Wisconsin. I had an incredible childhood with loving parents and three amazing siblings. We lived in the same house our entire childhood and my parents are still living there today. I was active in dance, basketball, tennis, swimming, music and pompom. My parents worked hard to give us everything we ever wanted and supported us in all of our dreams and adventures!
I attended the University of Wisconsin – Madison. I graduated with a Bachelor in Communication Arts. My college days went by fast. I ended up taking a year off during my senior year of college and moved out to Hollywood. I will never forget the moment I said goodbye to my mother in Burbank and I was alone for the first time in my life. I could not believe I had the confidence in myself to move to California to pursue my dream of being a movie producer! I lived out there for a year and was all set working in an incredible production company. At the time, my mother was National Alumni President for the University of Wisconsin and I felt the pull back to Wisconsin to finally finish my degree. I graduated in December, 1996.
After college, I headed right back to Los Angeles to continue my career in the entertainment industry. I spent my twenties working in the entertainment world for Wes Craven, Jerry Bruckheimer and Miramax Films. I moved to New York City for a year before I moved back to the Midwest. In Chicago, I worked for one of the top NFL and NBA sports agencies where I met my husband, Justin Zanik. He is currently the Assistant GM of the NBA Utah Jazz.
From Chicago, Justin and I moved to Los Angeles for a couple of years. From Los Angeles, Justin’s company at the time moved him to New Jersey. It was a shock to move from my dream town of Pacific Palisades to the East Coast. I ended up working in Manhattan for a private equity firm. We waited a few years to have children so that we were financially secure enough that I would not have to go back to work once we had our first child. I was making close to six figures back in 2006. I commuted two hours each way and worked up to a week before my due date. We had two of our three children, Ava and Oskar, in New Jersey. We eventually decided to move to Barrington, IL. We bought our first home and we were excited to welcome our third child, Lucy, in 2011.
We had money in the bank and big dreams ahead of having four children and the house with the white picket fence. We were on our way to fulfilling our dream!
By the time we entered our third year of our diagnostic odyssey, our medical bills were astronomical.
Here’s my medical journey…
In 2007, I started having issues at 34 years of age when I gave birth to Ava, my first child. I was “on fire” after my C-section. We had to keep the room so cold that Justin was bundled up in a warmup suit and still got sick. My body has felt on fire ever since. In 2012, when Ava started to have her symptoms with her hands and then eventually her head trauma, my body went to a whole new level of instability. I would check myself into the emergency room for a panic attack along with Ava for her headaches. My distal joints all popped and I lost the strength in my hands. I felt like I was having a heart attack every single day. During one of Ava’s Mayo Clinic visits, I asked her doctor if I could have a workup done. He agreed. I saw every specialty and had over a one-million-dollar workup there over about two years. They agreed that I had inflammatory arthritis and an undifferentiated connective tissue disease. They started me on hydroxychloroquine.
There is a long diagnostic journey about my children that I could go into that plays into my stress and anxiety issues. However, this is about my journey and my undiagnosed rare disease. I will try to remain focused😊
After my daughter had her four cranial surgeries, Justin moved us to Salt Lake City, UT. He was offered the job with the Utah Jazz in the fall of 2013. We relocated our family again and I had hip surgery in October, 2013. My disease process progressed during my hip surgery and the year after. I spent so much time in physical therapy for not only my hip but for my aggressive and progressive osteoarthritis.
My medical team at the University of Utah doctors disagreed with the Mayo Clinic diagnosis and labeled me as undiagnosed rare disease with many different syndromes and symptoms. I have eosinophilic esophagitis (EOE), aggressive and progressive osteoarthritis, hypertension, intermittent nocturnal hypoxia, sleep apnea, extreme temperature control issues, dysautonomia, severe fatigue, dyspnea, photophobia, vertigo, cervical spondylosis, dysphagia, poikiloderma, severe anxiety and I have myoclonic jerking at night. I have a lot of blood levels that are off but not in a way that gives me a name for my disease process. There is no magic pill and I do not fit into any box.
I have been turned away by three different rheumatology departments at three different institutions because I do not fit in their box. I have recently started to have feelings like a lightning storm is happening in my body when I try to sleep at night. It is painful and my brain feels so very tired. I still get up and rock the family responsibilities and have fun with my three children.
We have had our whole exome sequenced and analyzed six times. We have had our whole genome sequenced and analyzed three times. We still do not have a smoking gun gene to explain the root cause of our disease process.
From Salt Lake City, we moved to Park City during the summer of 2014. The altitude really made me work hard for every single move. I had lung issues that year and had to be put on oxygen. During the summer of 2016, we moved to Delafield, WI. We had another opportunity within the NBA and we went for it. We were living near my parents and our old medical team from Ava’s days at the hospital in 2013, the Children’s Hospital of Wisconsin and Froedtert. I went through another work up there and I still did not find any answers. They told me to stop the hydroxychloroquine since there was no literature to support it helping osteoarthritis. This was hard to hear as I now had no hope to stop the progression of my distal joints.
We went through the Undiagnosed Disease Network (UDN), a program through the National Institute of Health (NIH) in December of 2016. We had such high hopes of finding a diagnosis, a treatment and a cure. I have a participant page up on the UDN site if you would like to learn more about my disorders and symptoms.
During the summer of 2017, we moved back to Park City, Utah. We have moved so many times but the children are so resilient. I am back with my incredible team here at the University of Utah. My GI specialist and my neurologist are on the mission to help me figure out my disease process. They work with me during their family time and push for more answers with me.
We are extremely grateful to our incredible medical team that we have across the country and we are hopeful that they will continue to search for answers for our family.
I love the lyrics in “Awake My Soul” by Mumford and Sons.
In these bodies we will live, in these bodies we will die
And where you invest your love, you invest your life
I am investing all of my love into my three beautiful children and my husband. I am investing all of my love into my family and friends. I am investing all of my love into my nonprofit, the Rare and Undiagnosed Network (RUN) and my RUN families.
This is my life. I only have this one body and I am fighting hard to find the answers and to have a treatment and a cure. As of now, my diagnosis is Undiagnosed.
To learn more about the Szajnuk’s Journey