Rare Disease Day 2022

Ulysses Neuroscience recently hosted the ‘Rare Disease Day’ at Trinity College; a day to raise awareness and generate change for people living with rare diseases, their families and carers in Ireland. Research at Ulysses Neuroscience (based in the Trinity College Institute of Neurosciences – TCIN) focusses on neurological and psychiatric brain disorders. The organisation works collaboratively with academia, funding agencies and pharmaceutical companies.

The Ulysses Neuroscience Team and Rare Disease Day participants at the event in Trinity College

Rare Disease Day brought together the research community and pharmacological industry representatives with rare disease associations, families and patients across Ireland to create a space to facilitate communication. The aim was to work towards fairness in access to diagnosis and healthcare for patients and families.

The day was a huge success, and gave the Ulysses Neuroscience team an opportunity to not only learn about the physical and biological factors of disorders outside their scope of expertise, but – more crucially – it gave all attendees an insight into the psychosocial impacts the disorders have on patients, their daily lives, and their families. Invited representatives from rare disease associations spoke about their focussed work within their own communities. The day-to-day struggles of each disorder are as varied as the rare diseases themselves, but they all share commonalities.

Beth Milofsky, Founder, SWAN Ireland (Syndromes without a name)

HIGHLIGHTING NEEDS

There was a very clear call to action for the research community to investigate and address the collective requirements that families experience. The need for more people in the field such as specialist nurses to keep up with the demands of the community was starkly evident, alongside issues with wait lists for diagnoses and lack of adequate support for families receiving them. The importance of awareness raising was evident: educating the general public, along with healthcare providers and research communities was agreed on as an urgent need. Meeting this necessity begins with these important conversations.

John Kelleher, Director and Trustee, Ataxia Foundation Ireland

CELEBRATING THE COMMUNITY

Focusing on what people with rare diseases can do and not solely on what they cannot do was agreed on as significant. Coming together to celebrate these achievements and capabilities is important, as are the connections that can be made when people come together to share their experience. The more voices that are brought together, the louder they can advocate for meeting the needs of their community.

Sara Hetherington, Angelman Ireland, and Mum to Orla, said:

It was refreshing to be back in person discussing our common goals and individual challenges. Very constructive to be talking to other Rare disorder representatives who are all equally focused on raising awareness and progressing research in Ireland. The growing interest in orphan drugs for disorders like Angelman Syndrome and other disorders offers hope to a huge patient and parent group previously side-lined in research terms.

Professor Massimiliano Bianchi, Founder/President & CEO, Ulysses Neuroscience (pictured above), said:

Together we will increase awareness, we will expand our research on more rare diseases, we will find support for science, we will improve quality of life for patients and families. Together we #ThinkRare.

Professor Rhodri Cusack, Director, Trinity College Institute of Neuroscience (pictured above), said:

It was great to participate in this event and to meet so many inspiring people. Events like Irish Rare Disease Day are important for the research teams at the Trinity College Institute of Neuroscience and elsewhere in Ireland.