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Rare Stories initiative illuminates lives in Northern Ireland rare disease community

The Northern Ireland Rare Disease Partnership (NIRDP) unveils its groundbreaking project, Rare Stories, a program dedicated to collecting, amplifying, and showcasing the experiences of patients and professionals within the Northern Ireland Rare Disease Community. Supported by ESC Films and the Rank Foundation, this initiative resonates with the voices of those navigating through rare diseases, creating a tapestry of narratives that invoke both understanding and action.

Under the adept leadership of filmmaker Andrew McCoombe, the filming work and creation have been meticulously crafted, ensuring every story resonates with authenticity and impact. The culmination of these efforts is now accessible to the public through a series of videos available on the official NIRDP YouTube channel –

Rare Stories is not just a project, but a journey that explores the myriad facets of living with rare diseases, the challenges encountered by healthcare professionals, and the indomitable spirit of the community that thrives amidst adversities. This initiative provides a platform for individuals to share their stories, fostering a culture of awareness, empathy, and support.

The event unveiling Rare Stories (on Rare Disease Day Feb 2023) was a blend of reflective and forward-looking dialogues, mirroring the ethos of NIRDP which has always been about nurturing a supportive ecosystem for the rare disease community in Northern Ireland.

Patrick Toland, CEO of the NIRDP, commended the initiative stating, “The Rare Stories project is a testament to the resilience and strength of the rare disease community in Northern Ireland. We are sharing these emotive and educational stories.”

NIRDP continues to advocate, connect, educate, and innovate on behalf of the rare disease community, embodying a beacon of hope and support for the 1 in 17 individuals in Northern Ireland affected by a rare condition or disease.

For more information about Rare Stories or other projects by NIRDP, Any queries can be directed to the Rare Disease Virtual Support Hub via email by phone at 0770 447 6929.

Editorial Notes: The Northern Ireland Rare Disease Partnership was established in 2012 with a vision to ensure no one is disadvantaged due to the rarity of their condition. Through various projects and initiatives, NIRDP has been a pivotal force in bringing about positive change in the lives of individuals affected by rare diseases in Northern Ireland.

Here are two short quotes from the YouTube videoRare Stories – Voices of the 1 in 17 NIRDP Introducing Dr Stephanie Duguez“:

Dr. Stephanie Duguez says:

“It is indeed very important for patients and patients’ families to be involved in the research… it is because the patients’ families wanted to understand what was going wrong with their kids, because they wanted to find a therapeutic strategy, that today we have a therapeutic strategy that we can give to those patients affected by SMA.”

Another quote from the video is:

“What gives me hope about the research on rare diseases is that we have had a huge, great advance in technology. This helps us to go deeper and deeper into the mechanisms that are involved, affected in the rare disease. However, the challenge is that you’re working on a rare condition, so if you are working on a rare condition, it means that you are developing a niche knowledge.”

Here are two short quotes from the YouTube videoRare Stories – Voices of the 1 in 17 NIRDP Introducing Julie Power Vasculitis“:

Julie Power shares her experience:

“Getting my diagnosis of a rare disease, it was life-changing. Rare diseases are rare, and there isn’t an awful lot known about them, and who better to ask than the person that’s living with these conditions with all the complications that there are. You can’t learn all that through a medical course.”

She also speaks about the impact on her life:

“Living with a rare disease, it took me a while to realize that I was living with a rare disease. I realized that there were things that I just wouldn’t be able to do, that I couldn’t do, and there’s no point in worrying about that. I do a bit of art, or I’ll do a bit of pottery, or I’ll do a bit of knitting or something like that, but it’s something creative and it’s my way of expressing things.”

Here are two short quotes from the YouTube videoRare Stories – The Voices of the 1 in 17 – SED“:

Saul shares his perspective:

“We are not these lifeless, soulless monsters, aliens; we’re completely normal people. And if they see me doing something cool, they’re not afraid to come up just and make friends with us. That’s because we are completely normal people, just with extra equipment and requirements.”

He also talks about the need for inclusivity and consideration:

“All they have to do is consider disabled people when they build things, when they’re creating inventions, all the way to the government, the way they pass laws. All it needs to be done is for them to consider, ‘how can I make this accessible, is this accessible?’ And boom, you know, these aren’t big, massive, huge adaptations changing the world.”

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