Today is Rare Disease Day, a global movement to change the lives of those affected by rare disease. Please help us spread awareness of the need for more research, earlier diagnosis and better care.
Did you know that 1 in 20 people are affected by a rare disease?
In Europe, a rare disease is defined as one affecting <1 in 2'000 people. In the US, a rare disease affects fewer than 200'000 people in the country.
While each rare disease is rare on its own, together they lead to a high societal burden.
Recent studies estimate there are now over 10'000 different rare diseases. About 400 million people are thought to have a rare disease across the world.
72% of 10'000+ rare diseases have a genetic cause
This means we know a clear target for a drug.
90% of rare diseases have no approved treatment
Please help us create awareness of the need for more research, earlier diagnosis and better care.
70% of genetic rare diseases start in childhood
Caring for an affected child is stressful and demanding. As parents, we need your love, help and support.
4 tangible ideas to support an affected family
Don‘t ignore our child. If you don‘t know how to interact, please just ask us
Check in on us around important appointments, surgeries or hospitalisations, a simple text is enough
Offer practical help: babysit our complex child or take the healthy one out, help with the household, hire a cleaner, bring a meal, send us delivery a meal voucher
Don‘t ask us to look for the silver lining ("at least") as it minimizes our struggles, but offer validation ("wow, that sounds so hard, tell me more”)
Thanks to Madeline Cheney and her guests from The Rare Life podcast for the ideas.
Support AGO2 today to help us build a future in which children affected by Argonaute syndromes can thrive.
Rare Diseases FDA (2022)
EURORDIS What is a rare disease, accessed Feb 20 2023
Wakap, S. et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur. J. Hum. Genet. 28, 165–173 (2020)
Haendel, M. et al. How many rare diseases are there? Nat. Rev. Drug Discov. 19, 77–78 (2020)
Lamoreaux, K., Lefebvre, S., Levine, D. S., Erler, W. & Hume, T. The Power of Being Counted. RareX case study (2022)
Kaufmann, P., Pariser, A., Austin, C. From scientific discovery to treatments for rare diseases - the view from the National Center for Advancing Translational Sciences - Office of Rare Diseases Research. Orphanet J Rare Dis. 2018
Ruiz, M. How many rare diseases are there? Healx blog, accessed Feb 20 2023
Cheney, M. The Rare Life Podcast, Ep. 104