Rare disease day 2025

What is rare disease day?

Rare disease day was founded in 2008 by EURORDIS – Rare diseases Europe and the Council of National Alliances. The date of 29 February was chosen because it’s the rarest day, only coming around every four years; in non-leap years, the day is commemorated on 28 February.

Rare disease day was initially celebrated in 18 European countries; it has grown over the years and now involves over 100 countries aiming to unite parents, patients, families, healthcare professionals and policy makers, supporting an estimated 300 million people in the world living with rare diseases. Individually they’re rare, but together they make up a very large number.

Sciensus’ impact

Over the last five years, Sciensus has supported:

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patients with ultra-rare diseases

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patients with rare diseases

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patients referred by healthcare centres across Europe

“When I talk to parents and to the young people themselves, one of the things is that, in many ways, it’s such a massive relief to get a diagnosis. Quite often they’ve been through many years of being passed from clinical team to clinical team who scratch their heads and say, well, we don’t really know what this is. All we can tell you is what it isn’t.”
Professor Sir Jonathan Asbridge Chief Clinical Officer

For this year’s event, Sciensus held a webinar to introduce Ray Huml, Director of Rare Strategy, based in North Carolina in the US, and to give some insights into life lived with a rare disease.

A personal story – Meredith’s journey

Meredith is the daughter of Ray Huml. Meredith lives with facioscapulohumeral muscular dystrophy (FSHD), a genetic disease that causes progressive muscle weakness and degeneration, and the third most common type of muscular dystrophy.

Diagnosed at 12 in 2004, she initially struggled with acceptance and felt isolated.
Inspired by her father’s research, she became involved in rare disease advocacy.
She co-authored books on patient advocacy and worked in disability law and rights.
She led the North Carolina chapter of the FSHD Society and now works at Youth Lead North Carolina, empowering young people with disabilities.

“One of the things about rare diseases is grieving for the life that you could have had and thinking about all those things that you’re very passionate about and having to give that up or knowing that you’ll have to give that up in the future.”
Meredith

Key takeaways

The power of patient advocacy

Meredith’s work highlights the importance of self-advocacy and systemic change. Youth Lead North Carolina supports young people (15–30) with leadership training and skills to help them transition to independent living.

Trauma-informed care matters

Meredith emphasizes the need for healthcare teams to understand a patient’s full life experience. Compassionate, patient-centered care improves engagement and adherence to treatment, especially for children, individuals with cognitive disabilities, and marginalized communities.

The importance of community and support

Living with a rare disease can feel isolating, but connecting with others who share similar experiences can provide emotional strength and valuable resources. Support groups, advocacy organizations, and peer mentorship programs—like those led by Meredith—help individuals navigate challenges, find empowerment, and build lasting friendships.

At Sciensus, we walk the journey with our patients, helping them manage their conditions while also living full lives.

Living with a rare disease is like running a marathon, not a sprint. Our goal is to ensure patients not only receive the best possible treatment but also face fewer barriers in their daily lives.”
Professor Sir Jonathan Asbridge

About Sciensus

Sciensus is a leading European life sciences organisation with over 30 years of experience connecting patients with life-changing medications. We’re redefining patient-centric care, connecting patients with life-changing medicines while empowering pharmaceutical companies and healthcare professionals with the insights needed to improve people’s lives.

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