Getting a diagnosis

6 mins read

This advice applies across the UK.

Once you realise your child may have a learning difficulty or health problem, getting a diagnosis might be the next step.

Background to diagnosis

Once you realise your child may have a learning difficulty or health problem, getting a diagnosis may take some time.

Genetic Alliance UK estimates that about 50% of children with a learning disability have no definitive diagnosis. There are also some children with a disability that no one is able to explain the cause of.

If your child has an undiagnosed condition, you may worry that you might not be able to get any help or support. This is not the case. Every child is different, and your child is entitled to get support for their individual needs, regardless of whether they have a diagnosis.

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 if I suspect a particular condition?

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. Bring a copy of any reliable evidence to you to support this along to your appointment to show the doctor.

If the cause might be genetic

New conditions are being identified all the time. Doctors are now able to diagnose more conditions than ever before because of advances in medical knowledge and improvements in testing techniques and equipment.

If it is suspected that the cause of your child’s condition is genetic, then you may be referred to a genetics service, which are based at regional genetics centres. Ask your GP or paediatrician for a referral to a genetics
centre if you think your child has a genetic problem.

What to do if you are not happy with the diagnosis decision

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.

Why is it sometimes hard to get a diagnosis?

It can take some families a long time to get a diagnosis. For some people, this can be frustrating and very upsetting. 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:

• There are more than 6,000 known rare conditions, and some symptoms of rare conditions are unusual. If the specialist examining your child isn’t familiar with the condition causing their symptoms, they are likely to refer your child to another specialist.
• Some conditions have similar general symptoms; for example, muscle weakness, tiredness, pain, vision problems, and dizziness or coughing. Doctors look at common causes of symptoms before they consider rare conditions.
• There are significant variations in the way that a condition can affect different children. Your child may not have all the symptoms usually associated with the condition, or the symptoms they do have may not fit those usually associated with the condition.
• 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.

Referral to specialists

This 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.

Identifying the condition

This can be difficult. You may see several specialists before you finally find one who knows something about your child’s symptoms and condition.

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 has the right 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.

Related information

Parent guides and factsheets

Parent guide: Living without a diagnosis

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Healthcare in England

As you navigate the NHS, it can be useful to know how the system is structured.

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