If your child has been diagnosed with a rare condition, it can sometimes be a bit harder to get the information you need.
But there is plenty of advice to be found online and from other parents, and there are things you can do to make sure you’re getting the right support for your family.
In this article
What is a rare condition?
The European Union (EU) says a condition is rare if it affects fewer than five people in every 10,000.
Rare conditions can affect both children and adults and can occur at any time of life. Most rare conditions are life-long. Some are known as ‘progressive’, which means they may get worse over time. In some cases, rare conditions can be life threatening.
EURORDIS, a support organisation for people living with a rare condition in Europe, estimates that there are between 6,000 and 8,000 known rare conditions, and this number will increase as new rare conditions are identified.
How rare is rare?
Although each rare condition affects a small number of people in the population, the total number of people affected by rare conditions is quite large. Rare Disease UK estimates that there are 3.5 million people living with a rare condition in the UK, and 30 million in Europe. Most rare conditions (around 75 per cent) affect children.
If your child has a rare condition, you may feel quite alone. But there may be other families in the UK, or in other countries, that have a child who is affected by the same condition. With access to the internet, social media and international support groups, it is now possible to get in contact with others who can relate to what you are going through.
Why rare conditions can be hard to diagnose
It can take some families a long time to get a diagnosis for their child’s rare condition. For some people, this can be frustrating and very upsetting, so it can be helpful for parents to talk to professionals to better understand why an early diagnosis is not always possible.
There are several reasons that may delay a quick diagnosis for a rare condition:
- Some conditions have similar general symptoms; for example, muscle weakness, tiredness, pain, vision problems, and dizziness or coughing. Doctors are trained to look at common causes of symptoms before they consider rare conditions.
- Some symptoms of rare conditions are unusual – if the specialist examining your child isn’t familiar with the condition causing their symptoms, then your child is likely to be referred to another specialist.
- Your child may have a rare condition, but their symptoms do not fit those usually associated with the condition.
- Your child may not have all the symptoms that are commonly seen with the condition.
Referral to specialists can take time. It can be difficult to get an appointment with some specialists who deal with rare conditions. Sometimes you may have to wait three to six months for an appointment.
And identifying the condition can be difficult – you may see several specialists before you finally find one who knows something about your child’s symptoms and condition.
Where can I find out more about my child’s condition?
Getting a diagnosis of a rare condition can mean that it can be difficult to find clear and reliable medical information.
Our A-Z of Medical Conditions has information on hundreds on conditions, including information on symptoms and possible treatments. It also includes details for support groups, which can be an invaluable source of condition-specific information and support.
The internet can be a useful source of information, but it is important to assess the information you find to make sure it is reliable and trustworthy. We have a guide to finding medical information online.
Meeting other parents
Many parents with a child with a rare condition want to make contact with other families affected by the same condition to ask questions and share experience.
Our A-Z of Medical Conditions lists support groups who may be able to help with this.
You can also join our closed Facebook Group or our Online Community.
Getting support for your child
Tips for making things easier
Once you have a diagnosis, you may find that some professionals don’t know a great deal about your child’s rare condition. It may be helpful to get your specialist to write a letter explaining the condition and your child’s needs.
If you have found reliable information on your child’s condition, you may want to take a copy along to appointments and leave it with local health professionals.
Give professionals a sensible amount of time to read and digest the information. A busy professional may not have time to read a document when you give it to them. You could offer to go back at a later date to discuss the needs of your child.
More health information
Having a child with a rare condition, you may find that you have to juggle medical appointments, work with numerous medical professionals and travel regularly to appointments or clinics.
Our health webpages will help you to navigate the different health services, and we’ve included some top tops for appointments.
The impact of having a child with a rare condition can have many unseen consequences for families, including financial pressures.
Parents can face huge expenses travelling to multiple clinic appointments, often held in locations far from your child’s home. Many parents have to give up work completely to become full time carers and to coordinate their child’s appointments, which can have a massive impact on family life.
You can use our Common Questions Tool to find answers to some of the most frequently asked questions on our helpline, or visit our section on benefits & financial help.
Support in education
Getting support for your child at nursery or in school may be more difficult if your child has a rare condition.
You might find it helpful to ask your child’s specialist or paediatrician to write a letter to the school listing your child’s support needs. You may also want to take any reliable information you find on your child’s condition for education professionals to read.
Some rare condition support groups have leaflets for schools detailing the kind of support your child may need, which you can find on their websites.
We also have lots of education information and advice on our website.
You and your child may also been entitled to practical support from your local authority both inside and outside the home.
We have information about different types of social care and how to access support.
You might also be interested in
Ordering your free Helpful guide for families with disabled children
Our all-in-one book with all the information and help you need to enjoy family life.
Download our parent guide Living with a Rare Condition
All the information on this page – and more! – is downloadable in our parent guide.
Tip and hints on areas of your child’s development, like eating and drinking, toilet training and sleep.