Many children who are born with or develop a life threatening or life-limiting condition may not actually ever receive a full diagnosis of what their condition is or it may take considerable time to for a diagnosis to happen. This is sometimes abbreviated to SWAN (syndromes without a name) and can be incredibly isolating and frustrating for families.
Even if a child has no diagnosis they can still avail of the numerous services that are offered in the Republic of Ireland and Northern Ireland. A detailed list of services offering direct care, support and advice can be accessed here: Services
Genetic Alliance UK is the largest alliance of organisations supporting people with genetic, rare and undiagnosed conditions in the UK. Their members and the people they support are at the heart of everything they do.
Genetic Alliance UK advocate for fast and accurate diagnosis, good quality care and access to the best treatments. We actively support progress in research and engage with decision makers and the public about the challenges faced by our community.
They run two long standing projects:
Genetic Alliance UK operate with their sister organisation in Northern Ireland called “Northern Ireland Rare Disease Partnership”, this can be viewed here: https://nirdp.org.uk/
Link to website: https://geneticalliance.org.uk/
Rare Diseases Ireland (RDI) is the national alliance for rare disease patient organisations in Ireland, working across all rare diseases to improve the lives of the estimated 300,000 people living with rare diseases in Ireland.
RDI advocates for, empowers and engages organisations and advocates, as well as people living with rare diseases, their carers and their families, to mobilise together with a strong voice to shape policies and solutions driven by the needs of all people living with rare diseases.
They have a section on Undiagnosed Rare Diseases here: https://rdi.ie/menu/for-patients-families/
Link to website: https://rdi.ie/
