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Rare Disease Day 2021: Rare Is Many. Rare Is Strong. Rare Is Proud.
February 23, 2021
Alnylam Pharmaceuticals
What is it like living with a rare disease? The experiences are as varied as the diseases themselves and as unique as the people affected. More than 300 million people worldwide are diagnosed with a rare condition, but there is so much more that defines them than being a patient.
Rare Disease Day, celebrated annually on the last day of February, was created to bring attention to the different experiences of people living with rare diseases and to remind healthcare professionals (HCPs), policymakers and the general public of the challenges this community faces. These challenges include delays in diagnoses, lack of familiarity with certain conditions among HCPs and the community at large, barriers to access/quality care and, often, significant financial and emotional burdens.
While some aspects of living with a rare disease are similar, there is no singular shared experience. There is, however, a common sentiment among those impacted that their disease does not define them. The following perspectives highlight the diverse backgrounds, interests, hobbies and talents of people living with three rare diseases — acute hepatic porphyria (AHP), hereditary transthyretin-mediated (hATTR) amyloidosis and primary hyperoxaluria type 1 (PH1) — and prove that “Rare Is Many. Rare Is Strong. Rare Is Proud.”
You may think the rarest thing about me is AHP, but you’d be surprised to know something even rarer. I was a world-class figure skater!
– Nicole, living with AHP
You may think the rarest thing about me is PH1, but you’d be surprised to know something even rarer. I climbed two 14,000-foot mountain peaks in one day less than one year after receiving a kidney/liver double transplant.
– John, diagnosed with PH1
You may think the rarest thing about me is hATTR amyloidosis, but you’d be surprised to know something even rarer. For nearly two decades, every September, I would spend three days riding my bicycle over 250 miles from Boston to New York City.
– Rick, living with hATTR amyloidosis
You may think the rarest thing about me is AHP, but you’d be surprised to know something even rarer. I compete in virtual car races against some of the biggest names in racing.
– Sean, living with AHP
You may think the rarest thing about my daughter is that she has PH1, but you’d be surprised to know something even rarer. She is seven years old and loves practicing taekwondo.
– Laura, caregiver of a child diagnosed with PH1
You may think the rarest thing about me is AHP, but you’d be surprised to know something even rarer. I was part of an elite dance group, and even danced with a celebrity!
– Candace, living with AHP
You may think the rarest thing about me is hATTR amyloidosis, but you’d be surprised to know something even rarer. I write poetry and hope to have my first collection published by June 2021. I also play bodhrán and guitar.
– Rosaline, living with hATTR amyloidosis
You may think the rarest thing about me is PH1, but you’d be surprised to know something even rarer. I powered through a whole season of high school softball while harboring a large and painful kidney stone.
– Mayah, diagnosed with PH1
You may think the rarest thing about me is AHP, but you’d be surprised to know something even rarer. I learned how to play the violin again nine months after experiencing an episode of complete paralysis.
– Agnes, living with AHP
You may think the rarest thing about me is hATTR amyloidosis, but you’d be surprised to know something even rarer. I’ve swum 3.5km or more several times during events like Odyssée Massalia 2019 or Cap Naio 2016 despite having a pacemaker.
– Jean-Christophe, living with hATTR amyloidosis
For more information about Rare Disease Day 2021 and to find out how you can get involved, visit rarediseaseday.org.
To learn more about the rare disease community in the U.S. and worldwide, check out organizations like NORD, EURORDIS and Global Genes.
