Rare conditions
Rare conditions
There are around 7000 known rare conditions, and new ones are being found every year.
In Scotland, around 400,000 people live with a rare condition. This means about 1 in 17 people will be affected by a rare condition at some point in their life.
Some rare conditions are more common, but many affect only a small number of people. A few extremely rare conditions may affect only a handful of people in the whole world.
A guide for patients and families affected by rare conditions
This video gives more advice and information on rare conditions.
What is a rare condition?
A rare condition is one that affects fewer than 1 in 2000 people.
Most rare conditions are long term, meaning they often need to be managed throughout a person's life.
Most symptoms of a rare condition begin in childhood, and these can often be managed with treatment.
Over time, people also learn how to manage their own health and wellbeing. Because of this, many people with a rare condition are able to live active and fulfilling lives.
Common Symptoms
Symptom information is not available for this condition yet.
⚠️ This symptom list is for educational purposes. Having these symptoms does not mean you have this condition. See a doctor for proper diagnosis.
Medicines Commonly Used
⚠️ These medicines are commonly used for confirmed diagnoses of this condition. This is NOT a recommendation or prescription. Treatment must be determined by your doctor.
No medicines have been linked to this condition yet.
Diagnosis
Diagnosing a rare condition
There are many different types of rare condition. Most are genetic but some are acquired (non-genetic conditions).
Rare conditions can be diagnosed before birth, during childhood or later in life.
It can be challenging to diagnose a rare condition. This means that many patients experience a long journey to get a diagnosis. Dealing with this uncertainty can be frustrating and unsettling.
Sometimes a condition is so rare that it may not be possible to diagnose.
If you think you may be affected by a rare condition, you should discuss this with your GP practice. They may refer you to specialist services and recommend genetic testing.
Testing for a rare condition
Healthcare professionals will request different tests depending on your symptoms. These may include blood tests, x-rays or scans. They may also consider genetic testing.
Genetic conditions
Most rare conditions are genetic (about 80%).
A genetic condition is sometimes passed through one or both parents to their child. Some genetic conditions also happen in a family for the first time and may not be inherited from a parent.
Genetic testing
There are lots of types of genetic testing but a blood test is usually used. Your genetic team will explain any tests that are relevant to your condition in more detail.
Some tests aim to find changes in genes or chromosomes (the packages for your genes).
Genetic testing is always advancing so new conditions are being diagnosed every year.
Genetic centres
If it’s thought that you could have a rare genetic condition, you may be referred to a genetic centre. They can provide specialist counselling about genetic testing.
In Scotland, there are 4 regional genetic centres. These have expertise in rare genetic conditions. These are based in:
- Glasgow
- Aberdeen
- Dundee
- Edinburgh
Complications
Living with a rare condition can feel overwhelming and frightening at times. But please remember you are not alone, and support is there for you.
If you are struggling to get a diagnosis, do not lose hope. Keep reaching out to your healthcare professionals, and remember it is always okay to ask questions about your care.
Healthy living
If you have a rare condition, it helps to maintain a healthy, active lifestyle. Symptoms of a rare condition can worsen if you also have a common condition such as:
- diabetes
- obesity
- high blood pressure
Your local health centre or GP can offer advice on healthy living.
Further information on healthy living
Specialist services
These offer information and support for healthcare professionals, patients and their families.
Further information about specialist services
Further information about specialist networks
Support and information
Support groups and charities can be a valuable source of help and information. If there is no specific support group for your condition, a more general group may still be of help.
Genetic Alliance UK
Genetic Alliance UK supports people with rare, undiagnosed and genetic conditions. They can direct you to relevant information and support for your particular condition.
Rare Resources Scotland offers information for people living with rare conditions in Scotland, and also supports their families and healthcare professionals.
SWAN UK, run by Genetic Alliance UK, is a support network for families affected by a condition that has no name. These conditions are genetic and so rare that they often remain undiagnosed.
Unique
Unique is an international group for anyone affected by a rare chromosome disorder or an autosomal dominant single gene disorder. They provide:
- information leaflets for some rare conditions
- practical guides for families on topics such as sleep and education
- signposting to local and social resources, including support groups and Facebook groups
More about Unique
Contact
Contact works with families with disabled children. This includes:
- providing support to families in hospital
- running workshops for parents on sleep, money matters and more
- helping families find support groups
More about Contact Scotland
Rare conditions videos
You can explore topics such as:
- living with dysfibrinogenemia
- living with sickle cell anaemia
- living with vasculitis
- how occupational therapists support people with rare conditions
Please do not include personal information such as your name, location or any personal health conditions.