Undiagnosed conditions

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An undiagnosed condition is one where someone experiences symptoms but does not have a formal diagnosis. In some circumstances, a person may have definite symptoms but further investigations do not point to a clear diagnosis.

This information sheet explains the process of getting a diagnosis and why neurological conditions are sometimes difficult to diagnose. It also contains some useful contacts to help you if you are undiagnosed.

Your symptoms: how doctors reach a diagnosis


Diagnosing someone with a neurological condition is often likened to doing a jigsaw puzzle: collecting all the pieces together and putting them in the right order. Your symptoms are clues for your doctor, which all help to create a fuller picture. The idea is to explore the possible causes of your symptoms.

Your doctor will use several factors to understand more about your condition and lead towards a diagnosis. These may include:

  • Listening to your medical history and details of your symptoms
  • A physical examination
  • Tests or investigations

Keeping a diary of your symptoms can be helpful, noting down information about what happens and when.

It is also important to mention everything, so that you can give as full a picture as possible – even if it may not seem significant to you. While your main reason for seeing your doctor might be something obvious, like severe pain, think about whether you have experienced any other symptoms, too. These could include unusual smells or tastes, altered sensations, or an absence of feeling in one part of your body.

You may also find this BBC article on getting a diagnosis helpful.

Diagnosing neurological conditions


Neurological conditions can be difficult to diagnose because symptoms of one condition can be similar to another.

Non-neurological conditions can sometimes mimic the symptoms of neurological conditions. It may help to keep an open mind - your symptoms may seem to indicate a neurological condition, but could in fact be caused by something else.

Tests and investigations


Doctors can use different kinds of investigations to try to find out what is causing your symptoms. Depending on your particular symptoms, you may be referred for a variety of tests and investigations.

These might include:

Blood tests


You may have blood tests to check many things. If you have neurological-like symptoms, your blood tests might check your Vitamin B12 and various hormone levels.


Neurophysiology


Clinical neurophysiology is an area of medicine concerned with testing the electrical functions of the brain, spinal cord and the nerves in the limbs and muscles. This is done to help in the diagnosis of a wide range of conditions affecting these parts of the body.

The four main types of test carried out in clinical neurophysiology departments are:

  1. EEG (electroencephalogram): a recording of the electrical activity of the brain.


  2. Evoked potentials: a recording of the electrical responses of the brain and spinal cord to stimulation of the senses (sight, hearing and touch).


  3. Nerve conduction studies: a recording of the passage of electrical signals along nerves in the limbs.


  4. EMG (electromyography): a recording of the electrical activity of muscles.


See the Brain and Spine Foundation's Neurophysiology booklet for more information on these tests.

Brain and spine scans


A brain or spine scan is an investigation. Your doctor or specialist will refer you for a scan and use the results to assist them in making a diagnosis.

There are two main types of brain scan and spine scan: CT scans and MRI scans.

See the Brain and Spine Foundation's Brain and spine scans fact sheet for more information.

How to cope psychologically


"I would like to be able to put a name on it and then I can deal with it. The worst bit is not knowing what is causing the problem."
A user of the Brain and Spine discussion forum

Although being diagnosed with a serious condition can be hard, not receiving a definite diagnosis can be even more difficult to deal with.

Feeling anxious about being undiagnosed is perfectly understandable. Doctors may not be able to give you answers about the future, including how your condition will progress, which may make you feel insecure. And while there are often support groups for people diagnosed with conditions like multiple sclerosis or epilepsy, if you do not have a diagnosis you may not be able to benefit from these as a source of support.

Try to remember that diagnosis is not always a quick process and can often take many weeks or months to establish. Note that a period of rest time may be needed before repeating certain investigations, so you might need to wait before further tests can be done.

The Brain and Spine Foundation Helpline can give emotional and practical support for you, tailored to your circumstances. Call 0808 808 1000 or email helpline@brainandspine.org.uk for advice from our neuroscience nurses.

In some cases, a referral to a psychologist may also be helpful to you - ask your GP to refer you. You could also find an accredited therapist through the British Association for Counselling and Psychotherapy (BACP).

Listen to your body


You know your body better than anyone else, and if you feel something is wrong or different, don't just ignore it. Write down any new symptoms, noting the date and circumstances, as this can be really useful towards getting a diagnosis.

If you feel your concerns are not being met, please don't give up. The Brain and Spine Foundation Helpline nurses can help you by talking through your questions, discussing the findings of the investigations you have had and providing explanations for anything you don’t understand. (Call us on 0808 808 1000 or email us at helpline@brainandspine.org.uk).

Getting a second opinion


You may be thinking of requesting another opinion from a different doctor.

Here are some useful links so that you can find out more about getting a second opinion:


Internet research, other people's symptoms and self-diagnosis


Internet research into health problems can often be useful, but it can also be misleading and may cause you to worry needlessly. Remember that health information on the internet - even if it is from a reputable source - is by definition general and is not a substitute for seeing a doctor. You may come across forums or chat rooms with members who seem to have had exactly the same experiences as you. Or you might speak to someone you know about their illness and feel that yours may be the same. But remember that you are an individual and there may be important differences.

If you find something on the internet that seems to chime with your own experiences, or you feel you may have a particular condition, consult your doctor. If they disagree with your self-diagnosis, ask them to explain why (you might find it helpful to write down what they say). You can also call the Brain and Spine Foundation Helpline on 0808 808 1000 or email helpline@brainandspine.org.uk and a neuroscience nurse will be able to talk through your symptoms with you and explain any medical terms or procedures. Remember that you are an individual, and a diagnosis can only be made by taking your own particular medical history, symptoms, and the results of any tests or investigations, into account.

What if I don't get a diagnosis?


It is possible that you will never be formally diagnosed, and the cause of your symptoms will remain unknown.

While this can be worrying or unsettling, you may still be able to take advantage of the treatments and benefits available to patients who do have a diagnosis.

It may be possible for treatments to begin to help you manage your symptoms, even though the underlying cause of your illness is unknown. Management of your symptoms will depend on your own individual circumstances.

You may also be able to claim benefits. Contact the Benefit Enquiry Line or see the Citizens Advice website to find out what you might be entitled to.

"I take comfort in the fact that I've had extensive investigations and at least there's nothing 'sinister' showing."
A user of the Brain and Spine Foundation discussion forum

Further information and support

Brain and Spine Helpline


Run by neuroscience nurses, providing support and information on all aspects of neurological conditions for patients, their families and carers, and health professionals.

Tel: 0808 808 1000
Email: helpline@brainandspine.org.uk
Web: www.brainandspine.org.uk

For information, discussion and other resources on undiagnosed conditions, visit www.brainandspine.org.uk/diagnosis.

Rare disease UK


National alliance for people with rare diseases and those who support them.

Email: info@raredisease.org.uk
Web: www.raredisease.org.uk

Syndromes without a Name (SWAN)


Support group for families with a child with an undiagnosed condition. The website also contains a forum for undiagnosed adults.

Email: SWAN@geneticalliance.org.uk
Web: www.undiagnosed.org.uk
Forum: www.undiagnosed.org.uk/forum2

Contact a Family leaflet: About diagnosis


Contact a Family produce a series of leaflets about diagnosis. Titles include:

Or browse all publications on the Contact a Family website

British Association for Counselling and Psychotherapy (BACP)


The BACP can help you find an accredited therapist in the UK - use their Seeking a Therapist search facility online.

They also have information on finding the right therapist.

Tel: 01455 883300
Web: www.bacp.co.uk

National Institute of Neurological Disorders and Stroke (NINDS) (US based)


Conducts, fosters, coordinates, and guides research on the causes, prevention, diagnosis, and treatment of neurological disorders and stroke, and supports basic research in related scientific areas.

Web: www.ninds.nih.gov

Genetic Alliance UK


The national charity of over 130 patient organisations, supporting all those affected by genetic conditions.

Tel: 0207 704 3141
Email: mail@geneticalliance.org.uk
Web: www.geneticalliance.org.uk

Benefit Enquiry Line


Provides advice and information for disabled people and carers on the range of benefits available.
Tel: 0800 882 200
Email: BEL-Customer-Services@dwp.gsi.gov.uk
Web: www.direct.gov.uk/disability-money

Citizens Advice


Benefits advice and other information for people living in the UK.
Web: www.adviceguide.org.uk



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