What We Do

Through a well trained and experienced team we deliver:

Family and Community Services

Family Advice Service – providing free, impartial and confidential advice and information from diagnosis and beyond, navigating patients through complex pathways of support and treatment, as well as practical advice and a listening ear in times of difficulty.  If you would like to speak to our Family Services team please contact us.  We also operate a freephone helpline Monday to Friday, 9.30 – 4.30.  Please call us on 0800 652 3181.

Family Contacts Network – connecting families worldwide to reduce isolation and enable them to share experiences.

Conferences, Workshops and Education Days – to patients, families and health professionals, informing on key issues such as newborn screening and adult transition.  Registration opens soon for our next annual conference will be held in Birmingham on Saturday 14th October.

Young People

Awareness and Advocacy

Advocacy – on behalf of patients to ensure their voice is heard in key processes such as NICE and UK Newborn Screening We collate evidence and data to influence key procedures and access to treatment.

Awareness Raising Campaigns – such as Metabolic Disorders Awareness Week and My Metabolic Hero as well as creative projects and partnerships such as The Rare Project.

Fundraising Support – providing inspiration and support for our community fundraisers, holding a wide range of activities from bake sales and coffee mornings to larger events and challenges such as the London Marathon.

Information and Research

Information Services – we hold accessible summaries for all Inherited Metabolic Disorders, and can provide disease specific information for schools and care givers.  We can also provide information on subjects such as travel insurance and transition.

Professional Partnerships – we have a professional outreach team attending metabolic clinics, and share our strong links with a network of specialists worldwide.  We also work with other patient organisations and advisory groups to ensure we hold up-to-date information and signpost to the correct places.

Supporting Research – into the latest research and new therapies (Further information on the research process coming soon).