There are around 7000 known rare conditions, with new conditions being discovered every year.
In Scotland, around 400,000 people are affected by a rare condition. This means that about 1 in 17 people will be affected by a rare condition at some point in their lives.
Some rare conditions are more common but many only affect a small number of people. Some extremely rare conditions may only affect a handful of people in the whole world.
A rare condition is one that affects less than 1 in 2000 people.
Most rare conditions are chronic. This means they are a long-term condition that often has to be managed throughout a person’s life.
Most symptoms of a rare condition start in childhood. These can often be managed with treatment.
Over time, individuals will also learn about managing their own health and wellbeing. This means many people with a rare condition will be able to live active and fulfilling lives.
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.
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.
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.
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.
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:
Living with a rare condition can be overwhelming and frightening. But, you’re not alone and support is available.
If you’re struggling to get a diagnosis, don’t give up. You should continue to reach out to your healthcare professionals. Remember, it’s ok to ask questions about your healthcare.
If you have a rare condition, it’s important to maintain a healthy and active lifestyle.
The symptoms of a rare condition can worsen if you also have a common condition like:
Your GP practice can offer advice about healthy living.
Further information on healthy living
In NHS Scotland, there are some networks and services for specific conditions. These provide information and support for healthcare professionals, patients and their families.
Further information about specialist services
Further information about specialist networks
Support groups and charities can be a good source of help and information. If there’s not a specific support group for your condition, you might find a more general group helpful.
Genetic Alliance UK supports people with rare, undiagnosed and genetic conditions. They can direct you to relevant information and support for your rare condition.
Rare Resources Scotland has information for people living with rare conditions in Scotland. It also supports their families and healthcare professionals.
SWAN UK is run by Genetic Alliance UK. It’s a support network for families affected by a condition that doesn’t have a name. These conditions are genetic and are so rare they often remain undiagnosed.
The Office for Rare Conditions provide information and support in Scotland. This is for everyone affected by rare and undiagnosed conditions.
More about the Office for Rare Conditions
Unique is an international group for anyone affected by:
They provide:
Contact work with families with disabled children. This work includes:
Last updated:
08 July 2024