Reflecting on Rare Disease Day: lessons from the Cystinosis Community

Last week, our GET-IN MSCA PhD candidates had the privilege to meet Anne Marie O’Dowd, one of the founders of Cystinosis Ireland. Anne Marie is a mother of a young adult, the youngest of three, living with cystinosis — an ultra‑rare metabolic disorder affecting just 23 people in Ireland.

Her story was a powerful reminder of why rare disease research matters so deeply.

🔬 Understanding the Challenge

Cystinosis is a lysosomal storage disease in which cystine accumulates in every cell, affecting organs such as the kidneys, eyes, bones, and muscles. While there are treatments, including cysteamine formulations like Cystagon and Procysbi, they come with a high burden for the patients including challenging dosing schedules and significant side effects. Furthermore, treatment is challenging as cystinosis is a multi-organ disease and not all organs can be treated equally well.

Behind the clinical facts are families navigating uncertainty, exhaustion, and resilience.

💡 From Personal Struggle to Collective Action

When Anne Marie’s son was diagnosed, information was scarce and support limited. Yet Anne Marie and her family didn’t stop at caring for their son - they asked a bold question: “What else can we do?”

From an inspiring conversation with Donald Cairns (a scientist working on drug development) at a conference on cystinosis in the UK, the idea grew to set up something in Ireland to fundraise, to support research for cystinosis. Together with other parents, friends and kindered spirits a community formed. Local music nights were organised raising funds ; volunteers, scientists, and clinicians joined forces.

Cystinosis Ireland strives for a cure for cystinosis. Until then, they want people with cystinosis to live the best life they can. The goals remain the same since its foundation – to invest in quality cystinosis research, raise awareness and provide support. Based in Dublin but providing support online and in person throughout Ireland and Northern Ireland, they invest in research internationally to ensure the best minds are doing the best work.

Cystinosis Ireland works to achieve the highest standards in all the work they do, and grew into a charity capable of supporting peer‑reviewed research and partnering with the Irish government through the HRB (Health Research Board) on joint funding initiatives for rare diseases. Each year, Cystinosis Ireland runs the Dublin Cystinosis Scientific Workshop – a limited gathering of scientists, researchers and clinicians and many scientific collaborations have arisen from this event.

🌍 Building Networks, Strengthening Voices

Because patient numbers are small, collaboration is everything. Cystinosis Ireland leads out on Cystinosis Network Europe (CNE) which is now an international umbrella organisation for cystinosis patient organisations. Every two years, patients, families, clinicians, and scientists meet at CNE’s International Cystinosis Conference to share progress, advocate for access to treatments, and amplify the patient voice. This model of international cooperation shows what rare disease communities can achieve when united. In 2026, the International Conference will be held in Dublin, Ireland.

👥 What matters most?

Anne Marie put it simply: “The only stakeholder is the patient — the person living with the disease.” For researchers and clinicians, this means:

• People living with Cystinosis and their families must be empowered

• Communicate and not only disseminate, meaning listen to the cystinosis patients and speak in clear, accessible language

• Engage directly with patient organisations

• Ensuring our work addresses real patient needs, not just publications

Rare disease research relies not only on scientific excellence, but on empathy, partnership, and curiosity.

💜 On Rare Disease Day, we are reminded:

Collaboration can change the course of a disease.Patients and families are experts in their lived experience.And small communities can spark extraordinary impact.