Today is Undiagnosed Day!
What is Undiagnosed Day?
April 29th is Undiagnosed Day. It is a day to celebrate those living with an undiagnosed rare disease and their families as well as to remember the ones we have lost. We also want to thank everyone dedicated to working rigorously within the undiagnosed rare disease community to find a patient’s diagnosis.
The Undiagnosed Day campaign seeks to raise awareness among policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in undiagnosed rare diseases and the world of genomics. Undiagnosed rare disease patients should be recognized as a distinctive population that faces unique circumstances as they seek an accurate diagnosis. Since 80% of undiagnosed diseases have identified genetic origins, it is imperative to raise awareness about the importance of genomics for undiagnosed rare disease patients. Undiagnosed Day is celebrated on several different days around the world, but every day is undiagnosed for the families living in the world of the unknown. RUN celebrates Undiagnosed Day on April 29th.
In honoring this day, RUN recognizes the estimated 290,000 Utah residents who live with an undiagnosed and rare disease. Utah’s Rare and Undiagnosed Network (RUN) works tirelessly in our state to provide further education and research about undiagnosed and rare diseases. RUN Executive Director, Gina Szajnuk, also serves as vice-chair of the Utah Rare Disease Advisory Committee.
Please feel free to share our Undiagnosed Day ribbon and RUN’s #UndiagnosedDay video!
Please use #UndiagnosedDay or #UndiagnosedDay2024 in all of your social media!
“According to Online Mendelian Inheritance in Man (OMIM) 9173 hereditary diseases have been registered as of August 2020, of which 3308 are diseases classified as phenotypes with unknown molecular basis. Research for rare and undiagnosed diseases has become a major international trend. Leading projects such as the Undiagnosed Diseases Project (UDP)/Undiagnosed Diseases Network (UDN) (3) in the United States, Genomics England (4) in the United Kingdom, and Finding of Rare Genes in Canada (FORGE) (5) have achieved unprecedented outcome. Furthermore, the International Rare Disease Research Consortium (IRDiRC) (6) has built a broader cooperation system, which AMED joined in 2015.” – Initiative on Rare and Undiagnosed Disease in Japan – PMC (nih.gov) By Yuji Takahashi and Hidehiro Mizusawa
What is the theme for Undiagnosed Day?
The theme for 2024 is Intentional Disruption.
- In healthcare, the disruption should ultimately result in improved health and will likely include at least one of the following: enhanced efficiency; more effectively treating or curing a disease; reduced cost of a service; expanded access; [and] accelerating a treatment or diagnosing an illness at a stage, price or mode previously impossible or at least impractical.
All undiagnosed disease patients should apply to the Undiagnosed Disease Network. The Undiagnosed Diseases Network (UDN) is a research study backed by the National Institutes of Health Common Fund that seeks to provide answers for patients and families affected by these mysterious conditions. Apply to the UDN
The UDNI also welcomes collaboration. Apply as a Member. The UDNI involves centres with internationally recognized expertise, and its scientific resources and know-how aim to fill the knowledge gaps that impede diagnosis, in particularly for ultra-rare diseases. Consequently, the UDNI fosters the translation of research into medical practice, aided by active patient involvement.
Please learn more about the mission of the UDNF.org. Our mission is to improve access to diagnosis, research, and care for all individuals with undiagnosed and ultra-rare conditions.
Gina Szajnuk (Zanik), left, Lucy Szajnuk, Oskar Szajnuk and Ava Szajnuk pose for a photo at home in Salt Lake City on Wednesday, Feb. 16, 2022. After years of doctors visits and ongoing symptoms, they are still trying to figure out exactly what their rare disease diagnoses are.
Kristin Murphy, Deseret News
“Our undiagnosed rare disease community continues on a path of emotional, physical and financial ruin. Many undiagnosed rare disease patients live their entire lives without a diagnosis or with a misdiagnosis. We need to eliminate the diagnostic odyssey, which causes physical, emotional and financial ruin for these families, by making next generation sequencing available to families immediately.
Since 80% of rare diseases have identified genetic origins, it is imperative to raise awareness for the importance of genetics in the diagnostic odyssey 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 push hard on insurance companies to 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.” – Gina Szajnuk “Undiagnosed” Persists as an Ominous Diagnosis for Rare Disease Patients
“This is a very personal campaign for our Szajnuk family. We have worked with ten institutions in six different states on our diagnostic odyssey. We are praying for a diagnosis, a treatment and a cure in our lifetime. Please help us raise awareness for the undiagnosed rare disease community.” – Gina Szajnuk Living With an Undiagnosed Rare Disease
Oskar, left, Lucy and Ava Szajnuk play with their puppy Walker at home in Salt Lake City on Wednesday, Feb. 16, 2022. After years of doctors’ visits and ongoing symptoms, they are all still trying to figure out exactly what their rare disease diagnoses are.
Kristin Murphy, Deseret News
“All rare diseases were once undiagnosed. Many children and adults are born and thought to be healthy. In one day, their lives changed in an instant. Rare and undiagnosed rare diseases will touch your life at some point. It could be your mom, your dad, your friend or your child. Help us to do all that we can in our power to let us save their lives. I would just like to say that some people ask, “Why do you hurt?” 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. Thank you.” – Ava Szajnuk, at ten years old.
“I lived three healthy years before we realized there was something different about me. I look back at all of those happy memories in photographs and dream of the day I was healthy. Imagine that you only get three years of good health and they are the three years you don’t really remember because you were too young. My mom was told by a neurologist when I was five years old living in Chicago, that I was undiagnosed. The doctor went on to explain that I would never receive the root cause of my disease process. They would only be able to treat the symptoms. That was ten years ago. Imagine being told at the ripe age of five years old that your disease process would never be fixed. Imagine that for some reason, despite being a literal child, you were chosen to be different from everyone else. Constantly trying to justify the reasoning behind the cards I’ve been dealt is a difficult endeavor in it of itself. I was told to just deal with it.” – Ava Szajnuk, at fifteen years old.
Thank you to everyone that shares about Undiagnosed Rare Disease Day!
#Undiagnosed Day!
RUN’s Mission: RUN stands for the Rare & Undiagnosed Network. We’re a group of advocates, patients, families, researchers, and healthcare providers who share the same mission and vision: To empower rare and undiagnosed patients and their families with genomic information and community through advocacy, networking and support.
A special thank you to Small Forces Productions for donating our Undiagnosed Rare Disease Day video.
Again, please use #UndiagnosedDay or #UndiagnosedDay2024 in all of your social media!
If you have undiagnosed disease statistics to share, please email them to ginaszajnuk@gmail.com!
Please reach out to your local media to share your undiagnosed rare disease journey! We want to raise as much awareness that we can for our undiagnosed community!
Contact information:
Gina Zanik(Szajnuk)
Co-founder and Executive Director, Rare and Undiagnosed Network (RUN)
Vice Chair, Utah Rare Disease Day Council (RDAC)
E: ginaszajnuk@gmail.com
C: (310) 883-4353
To Read: A mother’s unrelenting crusade to help those trapped in the wilderness of the undiagnosed – by Lee Benson To Read: “What is the hardest part of being undiagnosed?” by Gina Szajnuk
To Read: “Undiagnosed is a Diagnosis” by Ava and Gina Szajnuk
To Read: The Szajnuk Journey To Read: “Push Through” by Ava Szajnuk
RARE Cast by Global Genes: “A Young Rare Disease Advocate Discusses Life with an Undiagnosed Condition”
