Rare Conditions & Undiagnosed Conditions – UK Support Guide

Urgent help first

Emergency: call 999
NHS urgent help: call 111
Urgent mental health crisis: call 111 and choose the mental health option
Samaritans: 116 123
Shout crisis text: text SHOUT to 85258

Seeking diagnosis

Start with your GP if symptoms are ongoing, unexplained, worsening or affecting daily life. Ask for:

A full review of symptoms
Blood tests or investigations
Referral to a hospital specialist
Referral to genetics if a genetic condition is suspected
Referral to neurology, rheumatology, immunology, cardiology, gastroenterology or another specialist if needed
A second opinion if symptoms remain unexplained
Reasonable adjustments for appointments

NHS genetic testing is free when you are referred by a hospital specialist, usually where a genetic condition or certain cancers are suspected.

Useful NHS link:
https://www.nhs.uk/tests-and-treatments/genetic-and-genomic-testing/

Specialist services

Specialist support may include:

Hospital consultant care
NHS Genomic Medicine Service
Genomic Laboratory Hubs
Clinical genetics
Rare disease clinics
Specialist nurses
Multidisciplinary teams
Pain, fatigue, neurology or rehabilitation services
Mental health support
Occupational therapy
Physiotherapy
Dietetics
Speech and language therapy
Social care assessment

The NHS Genomic Medicine Service supports quicker diagnosis for people with rare disease and helps reduce long periods of uncertainty sometimes called the “diagnostic odyssey.”

Useful NHS link:
https://www.england.nhs.uk/genomics/nhs-genomic-med-service/

Rare disease support

Rare diseases can affect mobility, pain, energy, breathing, eating, learning, communication, mental health, independence, work, education and family life. Genomics England states that around 3.5 million people in the UK are affected by a rare disease, and around 80% of rare diseases have a genomic component.

Useful support:

Genetic Alliance UK
Supports people affected by rare, genetic and undiagnosed conditions.
https://geneticalliance.org.uk/

Rare Disease UK
Part of Genetic Alliance UK, campaigning for better rare disease support.
https://geneticalliance.org.uk/

GOV.UK England Rare Diseases Action Plan 2026
Government plan for improving rare disease diagnosis, care, research and services.
https://www.gov.uk/government/publications/england-rare-diseases-action-plan-2026

Genetic conditions

Genetic conditions may be inherited, new in a person, diagnosed in childhood, diagnosed in adulthood, or suspected but not confirmed.

Support may include:

Genetic counselling
Family history review
Genetic or genomic testing
Testing relatives where appropriate
Pregnancy or family planning advice
Specialist clinics
Condition-specific charities
Research opportunities
Psychological support

Ask your hospital specialist:
“Could this be genetic, and should I be referred to clinical genetics or the NHS Genomic Medicine Service?”

Undiagnosed conditions

Some people live for years with symptoms but no clear diagnosis. This does not mean symptoms are not real.

Ask for:

A written summary of symptoms and test results
Referrals to relevant specialists
A medication review
Pain and fatigue support
Occupational therapy
Mental health support
Social care assessment
Reasonable adjustments at work, education and healthcare
Benefits advice if daily life is affected

SWAN UK – Syndromes Without A Name supports families of children and young adults up to 25 affected by undiagnosed genetic conditions.
https://geneticalliance.org.uk/support-and-information/swan-uk-syndromes-without-a-name/

Advocacy

Advocacy can help if someone is struggling to be heard, understand decisions, challenge care, attend meetings or ask for support.

Advocacy may help with:

NHS appointments
Social care assessments
Safeguarding
Education meetings
Benefits appeals
Care planning
Complaints
Mental health support
Best interests decisions
Transition from children’s to adult services

Where to ask:

Local council adult social care
NHS PALS
Citizens Advice
Mind
Disability Rights UK
Local advocacy services
Genetic Alliance UK for rare/genetic signposting

Find your local council:
https://www.gov.uk/find-local-council

Practical support to ask for straight away

Ask services for:

Longer appointments
Easy Read information
Large print, Braille or audio
BSL interpreter
Relay UK
Written appointment summaries
Hospital passport
Care coordinator if available
Named contact person
Accessible transport support
Home visits if needed
Reasonable adjustments
Carer or advocate involvement
Mental health support
Social care assessment
Carer’s assessment
Benefits advice
Occupational therapy assessment

Useful phrase:

“I have a rare, genetic, complex or undiagnosed condition. I need accessible support and reasonable adjustments. Please record my communication and access needs, and tell me what specialist, social care, advocacy and benefits support is available.”

Key links and numbers

Support

Contact

Emergency services

999

NHS urgent help

111

NHS mental health crisis

111, mental health option

Samaritans

116 123

Shout crisis text