“What is the hardest part of being undiagnosed?” by Gina Szajnuk
What is the Hardest Part of Being Undiagnosed?”
by Gina Szajnuk
Photo by Season Atwater, Aware of Angels
When The Mighty and the National Organization for Rare Disorders (NORD) asked RUN to team up to raise awareness for undiagnosed rare disease day on April 29th, I was honored and excited!
We all agreed on the one question to ask our community:
“What is the hardest part of being undiagnosed?”
When I started to think about this question, I had a wave of emotion come through me. My answers to the question may not just be for our family but for many families living in the world of the unknown.
How could I only pick one answer?
The topic is so personal to me for several reasons:
I am an undiagnosed rare disease patient.
I am the mother of three undiagnosed rare disease children.
I am the co-founder of a nonprofit that helps raise awareness for the undiagnosed rare disease community.
As a patient, the hardest part of being undiagnosed:
Photo by Season Atwater, Aware of Angels
One of the hardest parts of being undiagnosed is that the future is completely unknown.
We are currently doing another deep dive into my health with the help of an incredible team of doctors at the University of Utah Hospital that believe they might be on to something. Once again, I am spending countless hours at the hospital for injections, procedures, scans, bloodwork and doctor appointments. It is exhausting. However, they continue to advocate for my health and I feel so very blessed to have them in our lives. The workup will costs us a lot of money and they have warned me to not get my hopes up again. We are praying for some relief of my symptoms soon. I always come back to the question, “Will I live a long life but in pain or will I die at a young age?”
When you are aware of how many different disease processes are going on inside your body, it is very hard to be optimistic. I must continue to find a root cause. I want a treatment and a cure in my lifetime. I do not want the root cause to be found on the autopsy table.
We have a chronic and invisible undiagnosed rare disease. The hardest part is that if you cannot see it, most people do not believe it or understand it.
Photo by Season Atwater, Aware of Angels
One of my physicians reminded me recently that I am a sick woman and that I need to slow down. She knows that I am running at 110%. She explained that she has similar patients and they cannot even get out of bed on certain days. She encouraged me to focus on my health issues. She has seen me stop breathing during procedures. After my very first scope, she was the one to say I have a severe systemic disease process going inside my body. She continues to think of me at home when researching new possible diagnoses for me. I cannot express how important it is to continue to search for that one doctor that will think about you and be your biggest advocate in the medical system. We have many doctors continuing to advocate for our family. We are so thankful to all of them. Living with a chronic and invisible disease is very tiring emotionally and physically. You need to have a good team helping you navigate the medical system.
I am afraid to go to sleep at night because I might die.
I have nocturnal hypoxia and violent myoclonic jerking at night. I use a CPAP but I still worry that I might stop breathing and never wake up. As I go to bed every night, I say the prayer that I said when I was a little girl.
“Now I lay me down to sleep. I pray the Lord my soul to keep.
If I should die before I wake, I pray to God my soul to take.
If I should live for other days, I pray the Lord to guide my ways.”
I wake every morning knowing that I am going to have to push through the pain.
I have to persevere to care for my children and to run a household. I get up and I work hard. I push through the pain every single day.
I have come to realize that our diagnostic odyssey is not a sprint. It is a marathon.
We have come a long way over the years but I still have no treatment and no cure. I have also worked outside of Western medicine to see what can help me because I do not have a diagnosis. I have learned so much about the positives of Eastern medicine. I spend each day managing my pain.
As a mother, the hardest part of having three undiagnosed children:
Photo by Season Atwater, Aware of Angels
I have accepted that there is no magic pill to fix our pain.
I cannot find a diagnosis, a treatment or a cure for my three children. We have been to eight hospitals in five states and we have seen over 50 specialists. We can only treat the symptoms since we do not know what the root cause is of our disease process. I cannot take their pain away. I can only help them process that this is the way it will be for them in the near future and most likely for the rest of their lives. They have to push through their pain and live life to the best of their abilities. We can only accommodate their lifestyles to make them feel the best that they can on a daily basis.
Photo by Season Atwater, Aware of Angels
I am a helicopter mom and I own it. I cannot fix them but I will surround them with love, hugs and prayers for the rest of their lives. They have grown up fast and I am so proud of their fight inside, their perseverance, and their huge hearts.
They are old enough now to be able to advocate for themselves. Ava spoke at the State Capitol on Rare Disease Day and shared her journey. She also spoke to the University of Utah School of Medicine’s Freshman class in April. We recently had a doctor appointment and she did all of the talking. Our children are just a few of the incredible young, rare, and undiagnosed children living in the world of the unknown that will grow up to be the next generation of advocates.
As the co-founder of RUN, the hardest part of being undiagnosed:
We have watched children die from undiagnosed rare diseases and there was nothing we could do to stop it from happening.
When I started RUN in 2014, I was very naïve. I thought we would have whole genome sequencing and we would find a diagnosis right away. We would then move on to the next phase and find a treatment and a cure. I prayed for whole genome sequencing to be the answer, not only our family but all of the families living in the world of pain and disease. Unfortunately, many families have yet to find a diagnosis through whole genome sequencing. I still truly believe in next generation sequencing. We are at the forefront of science right now.
I wrote this in March, 2018: “In the United States alone, there is a huge population of patients with a genetic disease that is not diagnosed. It is a public health crisis and a huge burden on our health system. The average time to diagnosis is five to seven years for rare disease patients. Many undiagnosed rare disease patients live their entire lives without a diagnosis or with a misdiagnosis.
We need to eliminate the endless diagnostic maze, which causes physical, emotional and financial ruin for these families, by making next generation sequencing available immediately. Since 80 percent of rare diseases have identified genetic origins, it is imperative to raise awareness for the importance of genetics in the lives of undiagnosed rare disease patients. The importance of national and international data sharing is critical to improve diagnosis for these patients. We need to have collaboration and global cooperation.
We need to have insurance companies cover genetic sequencing in a clinical setting and have every single child sequenced in the United States. Sharing the data will allow for more information to be learned and for more of the undiagnosed rare disease patients to get answers. We can then and only then truly start on the next chapter of our journey — finding a treatment and a cure. As of now, being undiagnosed is our diagnosis, and we need to be recognized as a distinct population.” – Mediaplanet: “Undiagnosed” Persists as an Ominous Diagnosis for Rare Disease Patients
We have lost too many children over the years. It is hard to live in a world where there is so much being discovered in medicine and science – yet we are losing children every single day.
We have worked tirelessly to raise awareness with the general public for undiagnosed rare diseases. There is still so much work to do.
Through RUN’s NBA Initiative we are proud of the awareness raised for the rare and undiagnosed disease community. We need to raise more awareness, raise funds for research, and raise funds for financial support for families.
Photo by Ashley Wright Photography
Finally, I asked my family what the hardest part of being undiagnosed was for them?
Ava: (11yrs old):
“Hearing from doctors that it might take twenty plus years to find a diagnosis.”
Oskar: (8 yrs old):
“Not being able to go to school because I hurt so much.”
Lucy: (7 yrs old):
“We can’t find an answer.”
Justin’s answer:
“The hardest part for me is waking up each morning and knowing that I cannot fix them.”
Thank you all for your continued love, support and prayers.
Much love,
Gina
Read more about the Szajnuk’s Journey
If you want to learn more about undiagnosed rare disease resources, please see the list below:
National Organization for Rare Disorders: Undiagnosed Rare Disease Resource Page
Genetic and Rare Diseases Information Center (GARD): Tips for the Undiagnosed
Global Genes Toolkits: Becoming an Empowered Patient for the Undiagnosed
Rare and Undiagnosed Network’s Resource Page
The Mighty: Undiagnosed Community
Undiagnosed Diseases Network (UDN)
Undiagnosed Rare Disease Day
April 29th, 2019
#UndiagnosedDay
Collaboration of undiagnosed rare disease stakeholders is much needed to help improve the time from diagnosis to treatment.
Logo by Erica Braymen, Ecosyse.com
If you have an undiagnosed rare disease resource or would like to get involved in
#UndiagnosedDay 2019, please reach out.
Contact Information:
Gina Szajnuk (Zanik)
RUN Co-founder and Executive Director
E: ginaszajnuk@gmail.com
P: (310) 883-4353
