Anyone living with an undiagnosed disease knows how hard it is every single day to persevere. When the disease is invisible, it is even harder because you have to defend yourself on a daily basis. I have watched my three children persevere over the past few years but I am starting to see the side effects of not having a diagnosis really weigh on them and our entire family.
As Undiagnosed Day approaches on Saturday, April 29th, I wanted to share a little bit about what has been going on the last few months. I have not been able to promote Undiagnosed Day as much as I had planned. I have spent every single day over the past few months trying to figure out how to help my children right now. We have had so many appointments lately between the four of us that I have not had much time to do anything else.
Dealing with the schools, the doctor appointments, the disappointment of missing family events and social events has finally caught up with all of us physically and emotionally this spring. It has been an incredibly exhausting school year and we are working as best we can to have our children attend school regularly.
The children were so disappointed to miss all of the NBA Buck’s playoff games as well as an on-court experience. The Milwaukee Bucks, partnering with RUN for RUN’s NBA Initiative, had rare and undiagnosed children help introduce the starting lineup at a recent Bucks Game! It was supposed to be something fun and a memory for them. It hurts my heart that they cannot attend the games to support their father, the Assistant General Manager of the Bucks, due to their sensory issues right now.
The children were also devastated to miss my father’s 80th birthday party. We have missed so many birthday parties, activities and way too much public school this year. We have created our own parties so many times and I’m proud of the kids for going along with it. Does it make me sad? Absolutely!
We continue to struggle. I do not feel like we are special and I know we are not suffering as much as many, many rare and undiagnosed families are in our community. I could name over a hundred families that are battling life and death every single day in their home. I feel very blessed that my children are cognitively doing well, they are walking and that they are verbal. My heart goes out to every single mother and father that will never hear the words “Mama” and “Dada” and to all of our rare and undiagnosed angels.
However, I do believe our struggles are still exhausting and the dream of having three healthy children and to be healthy myself is a constant battle that I must fight every single day. I want to curl up in a ball and cry but I don’t. I wake up every single day and say, “What can I do today to help my children and to help myself?”
Oskar has missed so much school this year due to his undiagnosed invisible disease process and it is hard to watch the people around him not believe him and not understand him. I did have a huge breakthrough a few days ago with his principal. She pulled me into her office and told me that she believed in Oskar and me. She said in the twenty-two years she has worked in education, she has never been in a situation like this before. Moving to a new school district requires months of relationship building to have educators better understand our family, especially Oskar. It can be exhausting emotionally. I have bins and bins of medical files from six different institutions to back the Szajnuk’s journey. We have letters from many specialists explaining our children. However, it requires a personal relationship between educators and our children for them to fully grasp the enormity of their medical history and protocols.
Oskar drew this picture recently to summarize his pain. He wants to be in school. He wants to feel better. His sensory issues have escalated to a point that he cannot handle loud noises for even short periods of time and it is hard for him to be around a lot of people.
I have cried so many nights and dreaded the mornings so many days this year. It has motivated me to be a better advocate for Oskar right now. I need to focus on Oskar. I want to give him the best opportunities to succeed in life.
We just had a letter written from our Special Needs Program at Children’s Hospital of Wisconsin in support of Oskar’s complex medical issues. We are so thankful to have their help navigating our diagnostic odyssey right now. We are currently adjusting his school schedule since he is not able to attend full days right now. His school is on board with us and they finally understand how hard we are working to help Oskar get through the school year. Oskar appears to look perfectly fine from the outside but something inside is wrong. He is in pain every day and fatigue can set in quicky combined with his sensory overload. He complains that his legs hurt when he sits too long. He says that his hands are weak and it is hard to hold a pencil. The list goes on…
He is such a sweet boy and truly loves going to school. It is a frustrating battle every single day to help him understand that he may not feel 100% all the time but he needs to try to push through it to attend school. I am actively working with his medical team as well as with his team at school. We are all trying to make it better for him and I am so very thankful to everyone spending the time on Oskar right now and for your continued support.
We will work hard to get him to feel better over the next few months and pray that next year will be a better year.
I know many of our rare and undiagnosed children do not attend school on a daily basis and I would love your advice on how you deal with it and how your child deals with it. How does the community deal with it?
Ava still struggles in pain every day. Her baseline is a two out of ten. She will have a horrible day and I think I have to take her to the emergency room. The next day, she wakes up back at baseline. She will have shoulder pain, headaches, stomach pain, rib cage pain, leg pain and other random pain. Every day is a new day and Ava continues to persevere. She attends school as much as she can. She loves her friends, her teacher and is excelling. She loves her activities at night but misses them often. She is currently with a headache that has lasted over a week. We just had a MRI and her shunt appears to be working and is stable. What is causing this headache? We just received a letter today for Ava as well from the Special Needs Program from the Children’s Hospital of Wisconsin about her complex medical history for her school. I am so very proud of Ava and the way she pushes through the pain the majority of the time.
Lucy is such a trooper. She absolutely loves school and her friends. She goes every day. She is rocking 4K. However, she will come home and crash in the evenings. She has leg pain, headaches, stomach pain and many other random pains. She asks for medicine and ice packs sometimes at night. When Lucy smiles and laughs, our entire house feels lighter. When Lucy is feeling well, she will dance around the house whistling. It makes me smile every single time.
I am still dealing with my pain issues as well. Since the Mayo Clinic and the University of Utah agreed that I do not fit into the rheumatology box, this new hospital agreed with them and sent me home. The rheumatologist also told me to stop my medication because there is no proof that it stops the progression of osteoarthritis. I have no medicine to slow down my multiple disease processes. It has been over four years in my diagnostic odyssey. I will go to sleep tonight and pray hard for a fresh start tomorrow and I will continue to pray for a diagnosis, a treatment and a cure.
I am walking a road that was not planned for my husband, for me or for our three children. We try to fit in this world of normal and healthy. Justin Zanik’s job is intense and he is gone alot. I try to do all the things that are asked of me all the while I worry over the health of my three children and myself. However, you can’t see it from the outside. Our disease process is invisible.
Undiagnosed and invisible.
We go through this cycle.
We will have a ton of doctor appointments to try to find answers.
We walk out most times without answers.
We go home.
We are not normal.
We try to be normal.
Then we search again for answers.
We poke them and we test again.
It is a cycle that has lasted over five years. When will we have a path to answers?
When will we have a diagnosis, a treatment, a cure?
Update on our Undiagnosed Disease Network workup:
On April 24th, Dr. Howard Jacob coordinated a call between Dr. David Bick, Dr. Matthew Might, Dr. Stanley Nelson and with an outside company, GenePeek, to discuss our family. These are all major players within the Undiagnosed Disease Network and it was a huge honor to get them all on the phone together to discuss what their thoughts were and with what GenePeek had worked on for our family. Unfortunately, there still is no smoking gun gene to give us a diagnosis at this time.
My dream has always been collaboration, collaboration, collaboration. Through our journey we have had our whole exome sequenced and analyzed over six times now. We have had our whole genome sequenced and analyzed over three times. I am blown away by the number of people truly invested in helping our family find a diagnosis. Without sharing our journey, we would have been so alone in this diagnostic odyssey. We have so many people dedicating their time and energy to helping our family. We are forever grateful to each and every single one of you.
We went to the zoo during our spring break and I took this picture of the zebra.
“The zebra is the mascot of the rare and undiagnosed community. To them, it’s a symbol of hope, a symbol of community and a symbol that one day answers will be given in their struggle to understand why.” – Cari Doutre/Leader County Editor
When we saw the zebras, Ava, Oskar, Lucy and I took a moment to pray. We are zebras.
Thank you to all of the zebras out there reading this! You know how hard it is and please keep persevering too! You are all such an inspiration!
Thank you to the ones that let me vent and to the ones that let me cry with them.
Please help raise awareness for Undiagnosed Day this Saturday! #UndiagnosedDay
Thank you for your continued love, support and prayers.
To learn more about The Szajnuk’s journey