First steps to a diagnosis

Getting a diagnosis may be the next step after you realise your child might have a learning difficulty or health problem. Some conditions are identified at birth or just after, whereas others may become visible at various stages of childhood development.

In the UK, your GP or health visitor is usually the first healthcare professional to speak to. You can discuss your child and your concerns with them. Your GP, at least initially, will usually coordinate your child’s diagnosis. They will organise tests and refer you to specialists as appropriate. Most likely, they may refer you to a paediatrician, who may in turn refer you to another specialist or other allied health professionals who might be involved in getting to know and understand your child - these may be speech & language therapists, occupational therapists and physiotherapists.

You can ask the GP or paediatrician for a referral to a specialist service or test yourself - if so, do take a list of the details about your child to the appointment to explain your reasoning (Hibi’s care management tools can help with this). You can also ask for a second opinion, in which case we advise supporting your argument with the right evidence about why you disagree and a collaborative, firm manner. If you’re having trouble with your doctors, you can get advice and support from the NHS Patient Advice and Liaison Service (PALS).

Although the GP will usually be involved in making a diagnosis it is often teachers who first become aware that a child is having difficulties in certain areas. Outside of the healthcare system, you will also find support in schools & nursery’s, who will have a named Special Educational Needs Coordinator, or SENCO. Your child’s school may also choose to refer your child to see an educational psychologist. Your local authority will also be able to provide support, particularly through theirSpecial Educational Needs & Disabilities Information, Advice and Support Service, or SENDIASS.

For some parents getting a diagnosis can be a struggle. Professionals can be confused by some characteristics, and even experts can struggle to make an accurate diagnosis.

Private diagnostics are also option, particularly given increasingly long waits to assessment. Costs can vary, so it’s do reach out to several providers to understand 1.) price, 2.) what this pays for, and 3.) whether any follow up services or support are included. You should also bear in mind that some local authorities in the UK may not accept the results of a private diagnosis, and might insist on an NHS diagnosis. For this reason, it is often recommended to stay on the waiting list for an NHS assessment even if you decide to go privately.


Questions to ask

The importance of diagnosis is the ability to use that to make sure your child receives the right support. Do make sure to ask about how the diagnosis can lead to the right therapies and interventions, and what they might look like. Make sure you have identified who your point of contact is. It will usually be your GP, but may be the paediatrician, SENCO or another health professional. Be sure that your point of contact has fully explained who you are being referred to and why.

Make a note of every referral, as this helps if you need to give a history to health professionals or need to refer back. Key things to keep track of include the professionals name and organisation, why they are referring you, who they are referring you to, and the expected timeline. It can be helpful to prepare in advance of appointments the questions and topics that you want to cover.

Also make sure that your point of contact has explained all the options available to you - for example, whether there may be any clinical trials or innovations relevant to your child.


Support without a diagnosis

Families and children often wait a long time for a diagnosis, with many not getting one altogether. But that doesn’t mean support isn’t available. In cases without a diagnosis, it’s important to communicate your child’s unique needs. You can use tools like Hibi’s care passport to support this. You’re also entitled to have a social services assessment of your child’s needs, and the needs of you as a parent carer, regardless of whether your child has a named diagnosis. In the UK, the charity Contact provide good resources here to support those families without a diagnosis, and SWAN (syndromes without a name) supports families of children with undiagnosed genetic conditions.