Rare & Undiagnosed Network

April 29, 2018 6:18 pm 1 Comment 16

All rare diseases were once undiagnosed.

Please help us raise awareness for #UndiagnosedDay. Thank you to Governor Gary Herbert for his declaration. This coming April 29th is officially Undiagnosed Rare Disease Day in Utah.

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

What is Undiagnosed Day?

The undiagnosed rare disease community is celebrated on several different days around the world but every day is undiagnosed for the families living in the world of the unknown. The Rare and Undiagnosed Network (RUN) celebrates #UndiagnosedDay, Undiagnosed Rare Disease Day, on April 29th. 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.

GOALS for #UndiagnosedDay

1) Raise Awareness

2) Collaboration and Global Cooperation

3) Undiagnosed Rare Disease to be Recognized as a Distinct Population

#UndiagnosedDay is being shared all over the world!

Photo by

Anahí Mackar ena Chacana Maldonado, Asociación Chilena de Colagenopatías tipo II, Chile

Photo by Yana Prints Neglected Diseases Collaboration, Israel

Photo by Sergio Ziggiotto, Universal Mankind

Photo by Alessia Torregrossa, Finestre di Assisi/Windows of Assisi

Photo by Finestre di Assisi/Windows of Assisi

Photo by Rare Disease Ghana Initiative

Photo from Eleonora Passeri and Universal Mankind from Camilla Gubbiotti

“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

Do you have an Undiagnosed Rare Disease Statistic?

In November, 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!

Undiagnosed Rare Disease Ribbon was designed by Ava Szajnuk and created by Erica Braymen

If you are going to have an event in your area to celebrate your #UndiagnosedRare community this month, please share your information with us! If you would like to get involved with raising awareness this month for #UndiagnosedDay, please reach out!

RUN’s three events #UndiagnosedDay events!

1) Dr. Lorenzo Botto: RUNing for RUN and the Undiagnosed Program, Penelope, on April 21st. Flyer created by Erica Braymen

2) We had an event on April 27th at the University of Utah School of Medicine for their medical students. Flyer created by Erica Braymen

3) Jazz won first series! On to Houston! #UndiagnosedDay #RUNNBA party at 1p-5p at the Szajnuk’s home in Park City! April 29th is #UndiagnosedDay and the Utah Jazz are playing the Houston Rockets at 1:30p MST! Please join us as we cheer on the Utah Jazz against the Houston Rockets! This will be a very casual party since it is such short notice. We live in the world of the unknown. We wake up every day not knowing what to expect. We thought throwing a party on #UndiagnosedDay for #RUNNBA would be fun! The kids are excited!