Today is Undiagnosed Rare Disease Day #UndiagnosedDay
Join us to honor the Undiagnosed Rare Disease Community today as well as the frontline heroes of COVID-19
All diseases were once undiagnosed.
During these very uncertain times, we want to acknowledge and raise awareness for the patients and their families that are living with an undiagnosed rare disease. We continually live in the world of the unknown and now it is even more scary and surreal with COVID-19.
Undiagnosed rare disease patients fall into the category of serious underlying medical conditions and live in fear of how their bodies will respond to COVID-19.
We also want to raise awareness for the frontline heros that are continuing to support all of the COVID-19 patients and their families. Words cannot express how much we appreciate every single act you do to make their lives special and meaningful. We want to thank everyone for doing their part by staying home and for doing social distancing.
On a personal note, our family is dedicating #UndiagnosedDay 2020 to Dr. Gene Wegner, Gina’s father and Ava, Oskar and Lucy’s G-daddy.
This is RUN’s fifth Undiagnosed Rare Disease Day! We started the awareness campaign in 2016. It has grown over the years to be a national and international campaign!
A very special thank you to everyone that has shared over the years to raise awareness for our undiagnosed rare disease community.
“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.” – “Undiagnosed” Persists as an Ominous Diagnosis for Rare Disease Patients
This is a very personal campaign for our Szajnuk family. We have worked with nine institutions in six different states on our diagnostic odyssey. My disease process is progressing and the level of pain is unbearable. 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 over the next two months. #UndiagnosedDay. – Gina Szajnuk Living With an Undiagnosed Rare Disease
“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. In closing, I would just like to say that 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. Thank you.” – Ava Szajnuk
Learn more about RUN via Podcasts and Articles
RARE Cast by Global Genes: “A Young Rare Disease Advocate Discusses Life with an Undiagnosed Condition”
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.
What does “undiagnosed” mean?
“An undiagnosed disease is a medical condition without a known cause despite a lot of evaluation.” Undiagnosed Disease Network UDN
What is Undiagnosed Rare Disease Day?
Undiagnosed Rare Disease 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 #UndiagnosedDay on April 29th. The main objective of Undiagnosed Rare Disease Day is to raise awareness for the undiagnosed rare disease community among the general public and decision-makers about undiagnosed rare diseases and their emotional, physical and financial impact on the lives of the patients and their families.
The campaign targets primarily the general public and also 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 genetics. Since 80% of rare and undiagnosed 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.
Help us raise awareness for the undiagnosed rare disease community by supporting Undiagnosed Rare Disease Day on April 29, 2020.
What is the theme for Undiagnosed Rare Disease Day?
The theme for 2020 is perseverance. How have you persevered with your undiagnosed rare disease?
We created the Undiagnosed ribbon from Ava Szajnuk’s drawing in 2016. Since zebras represent the rare community, we envisioned having a zebra ribbon with blue and pink colors added to it to represent baby boys and baby girls.
Please feel free to share our ribbon and our video!
Please use #UndiagnosedDay in all of your social media!
Thank you again to everyone that shared about Undiagnosed Rare Disease Day!
Collaboration, Collaboration! Collaboration!
A special thank you to Erica Braymen, Ecosyse.com, for the marketing materials and social media banners. She took Ava’s drawing and turned it into something very special.
Learn more about 2018 Undiagnosed Rare Disease Day Campaign!
Do you have an Undiagnosed Rare Disease Statistic?
SWAN UK (Syndromes Without A Name): In the United States, 30-40% of children with disabilities have an undiagnosed condition.
In the United Kingdom, 6,000 children are born each year with an undiagnosed genetic condition.
In November 2017, Dr. Ryan Taft from Illumina spoke at the last Rare Disease Congressional Caucus briefing and we 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.
If you or your organization have an undiagnosed rare disease statistic, please email them to ginaszajnuk@gmail.com. RUN is working on compiling as many statistics as we can for our community
Do you have an undiagnosed rare disease or do you know someone that does? Please share!
Photo by Season Atwater, AwareofAngels.org
We encourage you to explore our Rare and Undiagnosed Network (RUN) website to learn more about many families living in a diagnostic odyssey and the world of the unknown. Please read some of the incredible stories of inspirational men, woman and children living with an undiagnosed rare disease.
Ava Szajnuk (12 yrs old), Undiagnosed
Hailey Sampsel (19 yrs old), Undiagnosed Migraines
Rachel Nielsen (20 yrs old), Undiagnosed/Eosinophilic Esophagitis/Colitis
Calen Forsythe (17 yrs old), Undiagnosed
Michael Lee (17 yrs old), Undiagnosed
Lashay (19 years old), Undiagnosed
Michael George (18 yrs old), Undiagnosed
Oskar Szajnuk (10 yrs old), Undiagnosed
Lucy Szajnuk (8 yrs old), Undiagnosed
Stockton Perry (5 years old), Undiagnosed
Cohen Bramlee (7 years old), Undiagnosed
Talan Summers (29 years old), Undiagnosed
Each one of these families has an incredible story to share about their faith, their pain and their perseverance.
Our dream has always been to have an Undiagnosed Alliance
The Undiagnosed Alliance (the Alliance) would be a coalition of undiagnosed rare disease stakeholders coming together with the purpose to foster unified advocacy among patient organizations, individuals, and stakeholders in the medical community to address the clinical, personal, and political challenges facing the undiagnosed rare community. To achieve its purpose, the Alliance aims to do the following:
- Educate the rare disease community, physicians, policymakers, and other stakeholders about undiagnosed rare diseases;
- Develop and disseminate consensus policy positions to address identified policy barriers;
- Identify and promote clinical and non-clinical resources available to undiagnosed patients;
- Promote the creation of new clinical and non-clinical resources to be made available to the undiagnosed community;
- Facilitate public engagement between medical and policy experts (and between experts and patients) to discuss issues pertinent to the undiagnosed rare community;
- Solicit input and from – and actively collaborate with – undiagnosed rare patients and their families for the purpose of informing awareness and policy activities.
Thank you for your continued support of our family and the entire undiagnosed rare disease community! Much love, Gina
A special thank you to Small Forces Productions for donating our Undiagnosed Rare Disease Day video.
Contact information: Gina Szajnuk (Zanik)
Co-founder and Executive Director
E: ginaszajnuk@gmail.com
C: (310) 883-4353
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
