Getting undiagnosed

What would you do if you had been trying to get control of your symptoms but everything fails?

This happened to my patient, Finch, who had started to have seizures many years ago. She saw a specialist for a diagnosis and was told that, although her tests, including EEG, were normal,  she must have epilepsy and was started on strong, sedating drugs. While she continues to have uncontrolled seizures and has been unable to work, she has continued with this diagnosis and continues take ineffective medication: if your seizures are not epilepsy then, logically,  anti-epileptic medication will not help.

Getting the right diagnosis is the first step to recovery

Once you have been convinced that you have a medical diagnosis, it can be very difficult to accept that your symptoms may be due to a functional condition instead.

As a GP, I find it difficult to challenge these beliefs especially when given by a specialist. There is such a poor understanding of the reality of non-epileptic seizures,  that patients struggle to accept a functional diagnosis.

 And yet, research shows that up to 20% of patients who attend an epilepsy specialist clinic with seizures are found NOT to have epilepsy. Finch is not alone in her perseverance with the wrong diagnosis. Tragically,  there are thousands of patients who are convinced that they have a medical diagnosis with no such evidence.

For those people who are having functional seizures, it is possible to do an EEG and show their electrical brain waves are not showing signs of epilepsy.  This is proof and then the challenge is finding how to help to reduce episodes.

Fortunately,  the wonderful website,  FNDHope.org and its Australian counterpart,  fndaus.org.au, can provide useful information and resources, including healthcare professionals with skills to manage functional conditions. Understanding that you have a Functional Neurological Disorder (FND) is a big step towards recovery.

What about Multiple Sclerosis? It has been found that a small percentage of patients diagnosed with MS actually have a functional explanation for their symptoms*. It’s possible to have some minor changes on your MRI brain but not have symptoms consistent with Multiple Sclerosis.  Getting this diagnosis right is too important, so make sure you see a neurologist with this expertise.

If you have chest pain, it is important to get immediate medical attention. Call an ambulance and go to your nearest Emergency department. But once a medical diagnosis has been ruled out, you may find it difficult to have your doctor state your pain was functional. This may take time and repeated testing before everyone is convinced. You need to be sure, but it is helpful to know that functional chest pain is very common.

Headaches are also a common complaint and by far the majority are functional. Your doctor needs to listen carefully to your story and do appropriate tesitng to make sure other diagnoses can be safely excluded. I have patients who struggle to let go of their fears of serious disease and need to have expensive and invasive testing before they are convinced.

Joint aches and pains can easily be misdiagnosed as arthritis, especially one of the many inflammatory markers are found to be positive. Inflammation in joints should be diagnosed and treated quickly to avoid damage but without swelling and redness, joint aches may be functional. The level of pain does not necessarily match the X-ray changes. Another way to express this is to say that most 60 year old people will have changes on their X-rays but not necessarily any pain, so don't assume your pain is due to arthritis.

I find some of my patients sleep with clenched fists and so wake with stiff hands. Learning to reduce the defensive mode is an important part of their management.  Tai chi is very helpful to reduce pain and improve function if you have painful joints, whether or not you have arthritis. https://www.taichiproductions.com/ is a great start if you can’t find a local teacher. 

In all these cases, fear of disease can exacerbate the defensive mode and set up a vicious cycle of pain-fear-more pain.

The fear of a missed diagnosis and the lack of understanding of how common functional conditions are have led doctors and patients alike to overdiagnose medical conditions and underdiagnose functional ones.

And yet, there are often clues to the right diagnosis:

-           the duration and periodicity of symptoms. Doctors diagnose by pattern recognition. If your symptoms do not fit the range of patterns associated with disease, it is possible your condition is functional. For example, I saw a lovely woman the other day who has twitches in her legs, but only when she is focussing on them. This is most likely a functional condition.

-          What can disrupt a symptom?  For example, a true Parkinsons hand tremor won't stop if the other hand taps a rhythm but a functional tremor will be disrupted.

-          A disturbance of your gait can be, of course, a number of neurological conditions, but if you can, for example, walk backwards,  this is a clue it may be functional.

-          Failure to respond to treatment is a possible clue but needs careful evaluation

-          Cricopharyngeal spasm, or the tightness of the muscles of your voice box, might be misdiagnosed as asthma or even the life-threatening anaphylaxis, but has some typical features recognisable by experts. It is always helpful to video your symptoms if you can.

-          In my book , I describe how Vero would lapse into unconsciousness.  But her pulse, blood pressure and reflexes remained normal. This excludes a lot of medical conditions. Extensive investigations nevertheless were done and all were normal. Vero recovered because she was able to accept her condition was functional and she committed to treatment of her multiple stressors.

But you may have symptoms that make it difficult for you to accept as functional. It is reasonable to pursue a medical diagnosis, but as the likelihood of finding one seems less and less possible, there is everything to gain and nothing to lose by starting treatment for functional symptoms, in parallel. Unlike many medical treatments, all treatments for functional conditions are beneficial to your wellbeing regardless.

A few other clues that make a functional diagnosis more likely:

• If you suffer anxiety or depression,  this increases the likelihood your symptoms are functional.

• It may help to observe your symptoms if your mental health improves.

• People with neurodiversity also are more likely to have functional symptoms.

• A background of trauma is another risk factor for functional symptoms including pain and fatigue.

• If your symptoms arose during or after a period with too much going on in your life, and your body reached its coping limits, a functional diagnosis is possible.

• In my book, I list a lot of other factors that can precede the onset of functional symptoms. 

  Take the time to look at your life with all of these in mind. Your symptoms may make more sense, especially now that you are aware that functional conditions are real, and can arise when you have to deal with a lot of challenges.

So how do you get undiagnosed from your medical condition? In other words,  what do you do  now a functional condition has been diagnosed?

As a doctor who has been treating people with functional conditions,  I am aware how limited treatment may seem.  This is why I wrote my book: to begin the conversation needed to help people discover how to respond to having a functional condition,  because it is radically different in approach:

·        Understand that functional conditions are COMMON. Up to one in three patients have symptoms with all tests normal.

·        If your doctor suggests a functional diagnosis, make sure you really understand what this means.

·        I would recommend a careful reading of my book (starting from the beginning: it will make more sense that way!). Then have a discussion with your doctor, to initiate some of the treatments mentioned in Part Three. If you find some improvement in your symptoms, this is helpful in affirming you are on the right path.

·        Join patient support groups to share information and resources

·        One proviso here is that if your symptoms have been left untreated for a long time, response to treatment can be limited.

But understanding your diagnosis will mean you do not have to fear the symptoms are dangerous or threatening, but rather just an expression of your body’s response to environmental,  psychological and physical stressors.

How do you know if you are on the right path? How can you be sure that your diagnosis is correct? Sometimes,  it is obvious,  but sometimes you need to keep a close communication with your health team, to ensure any changes in your health is noted and responded to.  Keep your team informed and track your response to treatment.

Over the years,  we can expect to see improvements in the training of doctors in the diagnosis and management of functional conditions. But until then, it may be up to you to do this! I hope my book goes some way to assisting you.

Best wishes on your way to recovery.

 *The reverse is also true, where you may have been diagnosed with FND but eventually MS is diagnosed.