Getting a diagnosis


Donna talks about her experiences of getting a diagnosis for her two children with autism.

Why is it sometimes hard to get a diagnosis?

There are a number of reasons why getting a diagnosis can be difficult:

  • There are more than 6,000 known rare conditions - doctors rarely see children with these conditions, making it harder to recognise them when they do.
  • Different conditions can have similar features or symptoms.
  • Some children have a number of features or symptoms that do not fit into one specific condition.
  • There are significant variations in the way that a condition can affect different children.
  • Certain things that indicate a condition may not appear until your child is older - this may result in a late diagnosis or even a change in diagnosis.

Because of improvements in science and medicine, there may be a belief that doctors can always find out why something has happened to your child. Sometimes this isn't the case and this can be disappointing.

Who can help with diagnosis?

You can discuss your concerns about your child's development with your health visitor. You can also discuss your concerns about your child with your general practitioner (GP).

Your GP may refer your child to a paediatrician, someone who specialises in conditions affecting children and young people. They in turn may refer your child to a consultant who specialises in a particular area of medicine. If your child has lots of symptoms, they might be referred to different specialists to see if any of them can make a diagnosis.

Other health professionals may be involved in assessing your child and how well they can cope with certain activities. For example, speech and language therapists (SALTs), physiotherapists and occupational therapists (OTs).

Visit our common concerns section to find out who can help if your child has difficulties with:

  • Speech and communication
  • Feeding and eating
  • Toilet training and incontinence
  • Behaviour
  • Learning and attention
  • Sleeping

What can you do?

You may suspect a particular type of condition, so you could ask for a referral to a specialist service (for example for metabolic disorders).

If you want to do this, it is helpful to take a list of all the ways your child is affected along to the appointment to explain why the referral is needed. Support groups for the condition you have in mind may be able to help you find information and the right specialists to make a diagnosis.

If you think your child may benefit from a particular assessment or testing, then discuss this with your medical professional. If you find reliable evidence to support this bring a copy a long to your appointment to show the doctor.

Visiting a genetics centre

If it is suspected that the cause of your child's difficulties is genetic, then your GP or paediatrician may refer to a genetics service, which is based at a regional genetics centre. Often children with a genetic condition will have distinctive facial features (also called dysmorphic features).

Ask your GP or paediatrician for a referral to a genetics centre if you think your child has a genetic problem, or if you think your child has dysmorphic features.

We talked to Adam Shaw, Consultant in Clinical Genetics at Guy's Hospital and he answered common questions that parents have when visiting a genetic service.

We've split this into three short podcasts:

What to do if you are not happy

If you feel strongly that all ways of getting a diagnosis have not been explored, you may be able to get a second opinion.

You can go back to your GP and ask them to refer you to a different specialist. Try to avoid being confrontational, but be firm. Take along the list of things your child finds difficult and also explain the reason you are asking for the referral, giving examples if possible.

If you would like a second opinion after receiving advice from your GP, you can ask them to refer you to another GP at the same, or a different practice.

How important is getting a diagnosis?

While most parents say they would like a diagnosis, over time some find that getting a 'name' is not as important as it was at first. For these parents, the most important thing is ensuring that their child's day-to-day needs are met.

Others, however, want a diagnosis to help make sure their child has the best possible support and treatment. A lot of parents fear that their child will not be able to get the support they need without a firm diagnosis.

Your child is entitled to support for their needs whether they have a diagnosis or not. The support they receive should be based on their additional needs and not the name of a condition. See our page on support when your child does not have a diagnosis.

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