Rare conditions

There are around 7000 known rare conditions, and new ones are discovered every year.

In Scotland, around 400,000 people are affected by a rare condition. That works out as about 1 in 17 people being affected by a rare condition at some point in their lives.

Some rare conditions are more common than others, but many affect only a small number of people. A few are so rare that they may affect just 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, which means they are long-term and often have to be managed throughout a person's life.

Most symptoms of a rare condition start in childhood, and these can often be managed with treatment.

As time goes on, people also learn how to look after their own health and wellbeing. So many people with a rare condition are able to live active and fulfilling lives.

There are many different types of rare condition. Most are genetic, but some are acquired, which means they are not genetic.

A rare condition can be diagnosed before birth, during childhood or later in life.

Diagnosing one can be hard, and many patients wait a long time before they get an answer. Living with that uncertainty can be frustrating and unsettling.

Sometimes a condition is so rare that it can't be diagnosed at all.

If you think you may have a rare condition, talk to your doctor. They may refer you to specialist services and recommend genetic testing.

Which tests you'll need depends on your symptoms, and the doctor will decide that. They may ask for blood tests, x-rays or scans. They may also think about genetic testing.

Most rare conditions are genetic, about 80% of them. A genetic condition can be passed from one or both parents to their child. But some genetic conditions appear in a family for the first time, and in those cases the condition may not have been inherited from a parent.

There are many types of genetic testing, but a blood test is the one most often used. Your genetic team will explain any tests that apply to your condition in more detail.

Some tests look for changes in genes or in chromosomes (the packages that hold your genes).

Genetic testing keeps advancing, so new conditions are being diagnosed every year.

Living with a rare condition can feel overwhelming and frightening. But you're not alone, and support is available.

If you're struggling to get a diagnosis, don't give up. Keep going back to your doctors and other health workers. And remember, it's fine to ask questions about your own care.

If you have a rare condition, try to keep your lifestyle healthy and active. The symptoms of a rare condition can get worse if you also have a common condition like:

• diabetes
• obesity
• high blood pressure

Your doctor can give you advice about healthy living.