Getting a diagnosis

Obtaining a diagnosis can be hard but we're here to help, read our guide to discover what you can do.

We are often contacted by people who are struggling to get a diagnosis either for themselves or a family member. It can be a very challenging and frustrating time for everyone involved and it can sometimes take a surprisingly long time to get the answers needed to move forward. This toolkit aims to answer some questions you may have about getting a diagnosis and the support available

Why can it take so long to get a diagnosis?

Inherited Metabolic Disorders are rare and although there are a number of them which have symptoms that often raise suspicion of a metabolic problem, the vast amount have symptoms which are very varied and are linked with a lot of other health conditions too. Health professionals such as your GP are trained to look for more common causes of specific symptoms and so you may find that your diagnosis comes after a referral to a specialist in a different area

Who should I speak to if I suspect I/my child has an Inherited Metabolic Disorder?

The first question is to ask why you think it’s an inherited metabolic disorder? If another member of your family has an Inherited Metabolic Disorder or you have a family history of a metabolic disorder then you can go to your GP and ask for a referral to a clinical genetics service, who will discuss this with you and arrange some tests specifically related to the condition in your family to see if you; may have the condition, may develop it in the future, or to see if you carry the faulty gene.

If you feel that your symptoms resemble those of an inherited metabolic disorder, speak to the Metabolic Support UK Team, who will provide you with further information about the condition. You should take this information with you to your GP. It is important to be aware that in general the signs and symptoms of inherited metabolic disorder can be varied, there often isn’t a one size fits all approach with symptoms. Information online often presents you with a list of symptoms, however, you may have some, all, or in some cases none of those listed. Often symptoms present at different ages too. Generally, your GP will need to facilitate a referral to your nearest specialist centre. There is a list of both paediatric and adult centres on our website which you can pass on to your GP: URL for centres list here

If you would like to discuss your symptoms, or any worries or concerns, please feel free to contact the Metabolic Support UK team. Although we are not medical professionals, we can help you to navigate the diagnostic process.

What if my GP won’t refer me?

If you are not happy with the outcome of your GP appointment, you can always ask for a second opinion. If this too is unsuccessful, then please get in touch with our team. It is easy to get frustrated with your GP, however many GPs can go their entire career without seeing a patient with an inherited metabolic disorder and will likely try to rule out more common conditions. So ensure you go to your appointments fully prepared with information and a list of the questions you want to ask.

What happens when I get a referral?

Generally, you should expect a lengthy wait for a referral to a specialist centre. However, some more severe cases may be prioritised. You can always keep in touch with your GP to follow this up. It is useful to prepare in advance and our downloadable Appointment Q&A resource can be a handy tool to take with you. We recommend,if possible, you take someone with you to write down some notes, as it can often be quite difficult to retain information or to forget to ask questions. If you don’t understand something the specialist has said, don’t be afraid to ask them to repeat it or explain it in some other way.

You will only get a genetic test, if it is felt to be beneficial or that you need one. The specialist will work with their team to explore the reasons for any symptoms you or your child have. They will ask about yours or your child’s development or medical history and also your family’s medical history. They will then provide a full physical examination and ask for any further tests to be carried out such as blood and urine tests, scans and other tests.

What support is there?

Everyone involved in trying to achieve a diagnosis will be aware of how you may be feeling, and the specialists you see will be understanding of this. If you would like to talk about your feelings and/or talk about your journey through diagnosis you are welcome to get in touch with our team who will be happy to help.

We also recommend contacting the (Syndrome Without a Name (SWAN) team. SWAN is a support group dedicated to supporting families searching for a diagnosis and living without a diagnosis.

Tel: +44 (0) 20 7831 0883
Website: (Opens in new window)

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