Getting a diagnosis for your child

The diagnosis process will vary depending on your child’s condition.

Some conditions are more straightforward to diagnose. Others take longer to identify. Your child may have a mix of conditions which can also make diagnosis difficult.

Visiting your doctor

Some conditions are identified at birth or just after. Others may become visible or show symptoms at various childhood developmental stages. This can be at nursery, school or even in adulthood.

There are various ways to get a diagnosis. These can include:

• your GP seeing your child's symptoms or physical difficulties
• the hospital or your health visitor referring you to a specialist

The GP usually co-ordinates your child’s diagnosis. They can run tests, scans or assessments and refer you to consultants or specialists if needed. You may also receive the diagnosis from test results and consultants through your GP. Some children may never get a diagnosis.

Questions to ask when getting a referral

Getting a referral can help your child receive the right therapy and intervention. When talking about a referral, you could ask:

1. Are there any therapies or interventions needed? If yes: a. How effective is it? b. Are there any complications or side effects?
2. Who are you referring me to and why? (if applicable)
3. Are there any clinical trials or medical innovations that might help my child?

Preparing for a hospital meeting

After a new referral, the new department may send information about whether you need to take anything to the appointment.

Call the department reception if you want to check anything.

Write down:

• What are my concerns?
• What support does my child need?
• Does my child need referrals to other departments?

After meetings

Make a note of:

• What actions have been agreed?
• Who will do the actions?
• When will the actions be done? 

Tests and assessments

Some conditions have tests that will confirm your GP’s initial assessment. But some do not have a single test or assessment. You may be referred to several specialists or consultants. This can involve lots of tests and assessments that create a picture of your child’s condition.

GPs or consultants may also run tests to rule out other possible conditions. This is called ‘differential diagnosis’.

If your doctor is unable to give a definitive diagnosis, they may give your child a ‘working’ or ‘interim’ diagnosis. This is when your child gets support or treatment for the condition the GP or consultant thinks is correct. The doctor monitors the results of the treatment and then they may be able to diagnose the condition or continue with further investigations.

Time taken to get a diagnosis

The time it takes to get a diagnosis varies. Every child, condition and situation will be different. The process could take weeks, months or years, and it can last into adulthood.

The doctor may observe your child against developmental milestones over 6 months or longer. This helps them to see if there’s a developmental delay gap and if it’s getting smaller or bigger.

You may not get a diagnosis because:

• some conditions are too complex
• some conditions are not known
• or your child has a mix of conditions

While it can be frustrating waiting for a diagnosis, each step of the process is important for getting the correct care for your child. You can speak to specific organisations for guidance about a potential condition and its diagnostic process, as well as any new tests:

Conditions information (NHS)

Tips on caring for a disabled child (NHS)

A to Z of conditions (Contact)

SWAN UK (syndromes without a name) supports families of children and young adults with undiagnosed genetic conditions.

Talk to our online community about undiagnosed and rare conditions.

Setbacks

You may experience setbacks. There may be delays and cancellations.

Your child may also have a mix of conditions or their condition may change. This can cause a delay or you may not get a diagnosis at all.

Ask your GP or consultant how long it might take for appointments, referrals or test results. If it takes longer, ask them for an update.

There are things you can do to help manage the diagnosis process so that you’re prepared and able to plan.

Identify who is co-ordinating your child’s diagnosis

This is usually your GP. But it could be a paediatrician, Special Educational Needs Co-ordinator (SENCO), a consultant or other health professional. Ask your GP who your point of contact should be if it's not them.

Record your referrals

Make a note of every referral. This helps if you need to give a history to health professionals or you need to refer back to a stage in the process.

Keep a record of:

• which doctor or professional is referring you
• who they’re referring you to
• which hospital, clinic or organisation
• the reason for the referral
• the expected timetable
• who to contact if you have not heard anything

Have a checklist of everything you want to ask or get out of the meeting. Preparing for the appointment can help make sure you’re involved throughout and your questions or concerns are discussed.

Look after yourself

To look after your child, you need to look after yourself. Getting a diagnosis can be stressful. You may feel a lot of worry and anxiety. But try to find time away from the process. This could be:

• taking some time for yourself, possibly going for a walk, having a bath or watching your favourite show
• talking to a friend, family member or another parent who has been in your position about how you’re feeling
• doing something fun with your family. The diagnosis process should not get in the way of you enjoying time with your child

Emotional support for families of a disabled child

Managing stress when caring for a disabled child

Get support and information from specialist organisations

There is a wealth of expertise available from voluntary organisations, charities and experienced parents.

How to find support groups

Scope's online community

Concerns about services

It’s important to remember the diagnosis process is complex and can take a long time. 

If you are concerned about a service, start by contacting your GP or consultant for help.

If you’re having trouble with your doctors, you can get advice and support from the NHS Patient Advice and Liaison Service (PALS) to help resolve the issue.

Patient Advice and Liaison Services (NHS)

In more difficult cases contact the Patients Association or your local Healthwatch for guidance.

Patients Association

Healthwatch

Planning your day to day can be difficult when you’re getting a diagnosis. Many factors are out of your control and plans are likely to change.

Try to plan around your child’s needs and interests, as well as your family’s needs. You can then include appointments, tests or therapies in your existing plans. The focus is on you and your child instead of the condition.

Also try to avoid making plans too far in advance. They may become redundant when education systems or financial support changes. Your child’s personality, abilities and educational needs will also shape their future regardless of any plans you make. This is true for all children, with or without a condition.

So while some planning is useful, it’s worth considering if it will help you now or in the near future, or if it’s something that might change and can wait.