Rare Conditions Directory
Understanding lesser-known health conditions. These conditions may be rare, but getting answers shouldn't be difficult.
Covering conditions affecting fewer than 1 in 2,000 people
Rare diseases affect approximately 3.5 million people in the UK. On average, patients wait 4-5 years for a diagnosis. Early testing can help reduce this wait.
Conditions Directory
Addisons Disease
A rare condition where the adrenal glands do not produce enough hormones. Often called adrenal insufficiency.
Key Symptoms
Diagnostic Tests
Cushings Syndrome
Caused by prolonged exposure to high cortisol levels. Can result from medication or the body producing too much cortisol.
Key Symptoms
Diagnostic Tests
Haemochromatosis
A genetic condition causing iron overload. The body absorbs too much iron from food, which can damage organs over time.
Key Symptoms
Diagnostic Tests
Wilsons Disease
A rare genetic disorder causing copper to accumulate in the liver, brain, and other organs.
Key Symptoms
Diagnostic Tests
Pernicious Anaemia
An autoimmune condition where the body cannot absorb vitamin B12 properly due to lack of intrinsic factor.
Key Symptoms
Diagnostic Tests
Primary Hyperaldosteronism
Also known as Conn's syndrome. The adrenal glands produce too much aldosterone, causing high blood pressure and low potassium.
Key Symptoms
Diagnostic Tests
Phaeochromocytoma
A rare tumour of the adrenal gland that produces excess adrenaline and noradrenaline, causing episodes of severe hypertension.
Key Symptoms
Diagnostic Tests
Myasthenia Gravis
An autoimmune condition affecting communication between nerves and muscles, causing muscle weakness that worsens with activity.
Key Symptoms
Diagnostic Tests
The Diagnostic Odyssey
Many rare conditions take years to diagnose because they're not on a doctor's radar. Understanding symptoms and relevant tests can help you have more informed conversations with your healthcare provider.
Support & Resources
Rare Disease UK
National alliance for people with rare diseases
Genetic Alliance UK
Support for those affected by genetic conditions
NORD (National Organization for Rare Disorders)
Patient advocacy and education
Getting a Diagnosis
If you suspect a rare condition, consider asking your GP for a referral to a specialist. Private blood tests can help you arrive at appointments with useful data. Some conditions have NHS Specialist Centres that can provide expert assessment.
Read our guide to navigating diagnosisNeed Help Understanding Your Results?
Our team can help you understand blood test results and guide you on next steps. Private testing can be a valuable part of your diagnostic journey.
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