#RareDiseaseDay #ShowYourRare

It's #RareDiseaseDay!

For all of us at Blueprint Genetics, #RareDiseaseDay is a time for us to reflect on all of the people impacted by the rare genetic disorders we test for. On social media, the community is coming together to show support for rare.

Rare Disease Day is for everyone – the general public, patients with rare diseases, their families, caregivers, healthcare professionals, researchers and companies.


The diagnostic odyssey of ultra-rare diseases: a patient’s perspective

In 1998, Satu Salonen retired from her position as the head of an IT company and began her diagnostic odyssey. It took over five years to find a treatment that helps her cope with her own rare disease. She is now the president of the Finnish Association for Ultra Rare Diseases.

“I was considered an ultra-rare, one in a million patient. But as diagnostic testing improves, more patients are identified. These diseases have always existed, now we just have a name for them as we understand more about them and their genetic cause”

Read interview


Join the discussion

Rare diseases include thousands of different disorders with different genetic causes. Genetic testing and diagnosis is an important part of rare disease management.

Our mission is to support healthcare professionals around the world in providing the best care for patients and families with rare inherited diseases.

Join us to raise awareness by telling your story, sharing an experience or photo on social media on February 29th.

Whole Exome Sequencing (WES) guide for patients and families

Download guide

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Last modified: February 28, 2020