Finding support for a rare, genetic or undiagnosed condition in the UK

Step by step

1. Start with the exact diagnosis or genetic result

   Write down the condition, gene or chromosome wording exactly as it appears in the clinical letter. Similar names can refer to different conditions. Do not post a full genetics report publicly when asking for support.

2. Use Genetic Alliance UK to find a current organisation

   Search Genetic Alliance UK's member and condition information before relying on an old leaflet or social-media group. A small condition group may be the most useful source, but check that its website and contact route are current.

3. Use SWAN UK when there is no diagnosis

   A family does not need to wait for a named syndrome to seek community support. SWAN UK supports UK families of children and young adults up to 25 with an undiagnosed genetic condition, including unexplained developmental, learning, physical or complex medical needs.

4. Use Unique for rare chromosome or gene findings

   Unique can help families understand the language around rare chromosome and gene disorders, find condition guides and connect with other families. The clinical genetics team remains responsible for explaining an individual's result and medical implications.

5. Keep support information separate from medical decisions

   Condition charities can provide lived experience, practical resources and questions to ask. Do not change medication, feeding, seizure, therapy or emergency plans without the person's qualified clinical team.

6. Ask for the next clinical and practical routes

   Ask the genetics or specialist team who will coordinate follow-up, what information should be shared with school or care services, and whether siblings or relatives need advice. Separately request any education, social-care, carer or benefits assessment the family needs.