Join us to honor the Undiagnosed Rare Disease Community in April!

All rare diseases were once undiagnosed.

Governor Gary Herbert declared Undiagnosed Rare Disease Day in Utah! 

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What does “undiagnosed” mean?

“An undiagnosed disease is a medical condition without a known cause despite a lot of evaluation.” Undiagnosed Disease Network UDN

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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, 2019.

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What is the theme for Undiagnosed Rare Disease Day? 

The theme for 2019 is perseverance. How have you persevered with your undiagnosed rare disease?

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We created the Undiagnosed ribbon from Ava Szajnuk’s drawing in 2016.  Ava is eleven years old and suffers from an undiagnosed rare disease. 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 banner, our flyers, our button and our video!

Please use #UndiagnosedDay in all of your social media! 

We would love to have collaboration, collaboration, collaboration!

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Facebook Banner 2019

 

Twitter Banner 2019 

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.  

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Learn more about 2018 Undiagnosed Rare Disease Day Campaign!

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If you would like to request a declaration from your Governor for April 29th, please feel free to use the language below to apply for one:

Whereas, an undiagnosed rare disease is defined in the United States as a disorder that affects fewer than 200,000 Americans at any given time;

Whereas, approximately 50 percent of patients suffering from an undiagnosed and rare disease are children under the age of 18;

Whereas, undiagnosed rare disease patients should be recognized as a distinctive population that faces unique and troubling circumstances;

Whereas, patients’ quality of life is affected negatively by the lack of complete health and social care pathways prior to the issuance of a diagnosis;

Whereas, through promoting this issue we hope to achieve greater awareness, knowledge, and information sharing so as to achieve a great likelihood of accurately and effectively diagnosis presently rare and undiagnosed diseases; and,

Whereas, we wish to lend support to the estimated (add number of residents living in your state) (enter state) residents who live with an undiagnosed and rare disease and their families, as well as to organizations and individuals who work tirelessly in our state to provide further education and research about undiagnosed and rare diseases;

Now, therefore, I, (Governor’s name), Governor of the State of (enter state), do hereby declare April 29, 2019, as

Undiagnosed Rare Disease Day in (State)

If you receive a declaration from your Governor, please share it with us!

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Photo by Gina Szajnuk

Do you have an Undiagnosed Rare Disease Statistic?

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!

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“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

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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 (11 yrs old), Undiagnosed

Hailey Sampsel (18 yrs old), Undiagnosed Migraines

Rachel Nielsen (19 yrs old), Undiagnosed/Eosinophilic Esophagitis/Colitis

Calen Forsythe (16 yrs old), Undiagnosed

Michael Lee (16 yrs old), Undiagnosed

Lashay (18 years old), Undiagnosed

Michael George (17 yrs old), Undiagnosed

Oskar Szajnuk (9 yrs old), Undiagnosed

Lucy Szajnuk (7 yrs old), Undiagnosed

Stockton Perry (4 years old), Undiagnosed

Cohen Bramlee (6 years old), Undiagnosed

Talan Summers (28 years old), Undiagnosed

Each one of these families has an incredible story to share about their faith, their pain and their perseverance.

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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:

1. Educate the rare disease community, physicians, policymakers, and other stakeholders about undiagnosed rare diseases;
2. Develop and disseminate consensus policy positions to address identified policy barriers;
3. Identify and promote clinical and non-clinical resources available to undiagnosed patients;
4. Promote the creation of new clinical and non-clinical resources to be made available to the undiagnosed community;
5. Facilitate public engagement between medical and policy experts (and between experts and patients) to discuss issues pertinent to the undiagnosed rare community;
6. Solicit input and from – and actively collaborate with – undiagnosed rare patients and their families for the purpose of informing awareness and policy activities.

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Thank you for your continued support of our family and the entire undiagnosed rare disease community!

A special thank you to Small Forces Productions for donating our Undiagnosed Rare Disease Day video.