Reaching a point of diagnosis in too many cases is a long and hard road to travel down. Despite being the third most common movement disorder there is an astounding lack of knowledge in the medical community. The lucky minority may get a diagnosis in months, but for most it takes years, sometimes decades.
In a way I was lucky that I had heard the word Dystonia once before, though I had no appreciation of its signifinance. Looking back at my medical history I had symptoms long before I realised there was anything potentially wrong. In 2008/2009 I developed severe neck spasms, however this kicked off after a rather spectacular fall from a horse which resulted in me landing on my head, so it was easy to put the spasms down to this. Then in 2010 I experienced for the first time Oromandibular Dystonia. My jaw dramatically deviated for a painful 3 months before we found a maxiofacial consultant surgeon who knew what was wrong. I was informed that a quick operation where my tempromandibular joint (TMJ) would be washed out and botox administered would solve the problem. I never questioned this and presumed that Dystonia must be some sort of infection. This belief was reaffirmed by the fact that the operation was a success. Shortly after this I developed arm and back spasms, but for several years I shook these off as simply violent shivers.
In the summer of 2012 I was coming to an end of my first year of midwifery training. For a couple of days I’d had ear ache and swelling and had planned to visit the GP but was in no rush to do so. I now recognise this as a sign of whenever my jaw is going to play up. That weekend I’d popped home to visit my family, whilst relaxing in the garden with them my jaw started to spasm and once again deviate. My mum offered to drive me to the local hospital which I declined, convinced it was just an infection.
My GP that Monday was horrified. After one look at me I was on the way to the hospital with her convinced I had had a stroke. Countless blood tests and xrays were taken, and eventually a consultant appeared. He was the top bod in his area and had an ego to match. Due to his station I didn’t question his plan to wire my jaw shut. Less than 24 hours after the operation my flatmates were rushing my back to hospital, the spasms had returned with vengeance, breaking every wire in my mouth and dislocating my jaw. From that moment onwards the consultant dodged me. Refusing to see me or remove the wires which were ripping my mouth apart.
It took a further 3 months to find a surgeon willing and able to help me. Sitting in front of the surgeon who had treated me back in 2010 he was apologetic for the state I was in. By this point we had started researching Dystonia as I was now wheelchair bound and unable to brush my hair or feed myself.
I often wonder whether 5 years on I would have received my diagnosis if I had never met my neuro. The Dystonia Society UK have a wealth of information that has been invaluable. It’s enabled me to ask for treatment and referrals appropriate for my conditions and have informed conversations with doctors.
I never expected to still be fighting for correct care. The current hospital I am in would far rather blame my symptoms on past traumas than acknowledge the existence of Dystona. It makes me thankful daily that I have a neurologist willing to my corner.
The exact cause as to why people develop Dystonia is currently unknown for the majority of people. For a small group of people it occurs due to a gene mutation, brain injury, infection, secondary disorder, or as a result of medication. Pinning down the root of the condition is something that research is currently focusing on.
So far we know that for some unidentified reason there is an issue with a section of the brain called the Basal Ganglia. It is known that this region of the brain enhances activity in the motor cortex which controls the agonist and antagonist muscles. In a healthy person when they make a movement the way the muscles contract and relax is coordinated and harmonious. However with Dystonia there is a deficient inhibition in the antagonist muscles which can result in both sets of muscles contracting simultaneously. It’s not clear why this happens.
The Dystonia Society UK have a fantastic wealth of information on the ins and outs of Dystonia, which I would really recommend reading to find out more information on the condition. For now it seems unlikely that any one particular theory will be proven right in the immediate future, so I shall continue to personify my Dystonia into a cheeky little alien, it’s a far more entertaining cause.
Well first off thanks for the compliment! I work hard on making sure that I don’t look completely awful. The more my body is playing up the more care I take with my appearance; it cheers me up, and that’s one step towards having a good day. Mr judgemental Taxi man, I may not look as ill as you would like me to, but I was on the way to the Drs this morning because on top of all my chronic health conditions I had contracted yet another chest infection along with sinusitis. Yeah my immune system sucks. Infections on top of my pre-existing conditions are always detrimental and not something my body copes with well. I needed to get a prescription to nip it in the bud!
What do you deem as sick? Do I need to be wheelchair bound, using a walking stick or screaming in agony? Some days that is me. There are days when my meds are not strong enough to control my dysfunctional body, where my body contorts and contracts into positions that you could not imagine. Would you believe I was sick then? Not everyone does. There have been healthcare professionals who have stood by debating over which symptoms are real and which are fake in an attempt to get drugs. This is simply because they do not understand my conditions, I do not blame them, it’s not like my brain has developed the common ailments after all. However taking a moment to listen to someone before making a judgement is not hard.
Next time you see someone who isn’t stereotypically ‘sick’, pause and think.
When you visit your GP or go to the hospital to see a doctor or consultant you expect the doctor to say this is what we think is wrong with you, this is the test or tests we shall do to confirm and this is how we will treat it. Nobody expects a doctor to ask the patient what is wrong with them, or ask them how its been treated before and what do they want done.
In my opinion if a doctor does not understand a condition then it is part of their job to go away and look up the condition or go and find a doctor who does, never is it okay to ask the patient what they want done, the patient is no doctor so should not be making a doctors decision!
Whilst I understand that Dystonia is not a common condition and for that reason alone many doctors will never have had any experience in diagnosing or treating a patient with Dystonia, it is thought to be the third biggest neurological condition, so you would hope they would have had some inkling as to what it is.. The ignorance and the behaviour of the medical society is just unacceptable.
If you go on the NHS site and search Dystonia and scroll down to treatment, the first line of treatment is botulinum toxin injections (botoux), this stops the neurotransmitters from reaching the muscles that are affected. Why a consultant felt it necessary to wire my jaw shut (especially as with some of my other medical condition it caused complications), and then try to manual manipulate it, is completely beyond me. It suggests complete incompetence with treating Dystonia. This again is ridiculous, if you are not competent in treating a condition, the don’t do it! Go away and research treatment or speak to someone who does know and can inform you of the treatment line needed!
On yet another trip to the hospital last night I was disgusted with the knowledge that doctors seem to have! This particular doctor had obviously heard of Dystonia but knew hardly anything. Telling me I would be fixed eventually. That particular choice of words annoyed me greatly! You cannot ‘fix’ a Dystonia, there is no cure. Yes there is treatment that can be effective and yes some people are lucky enough that their Dystonia does not come back (small minority). This is the second time I have had Dystonia and this time it has progressed significantly consequently I know that I cannot be ‘fixed’. Secondly when someone is in agony and crying, telling them to stop crying and think positively is ridiculous. Yes positivity is needed but I was not crying because I was being pessimistic I was crying because of the agony I was in. Overall her lack of knowledge to the condition was appalling but I am beginning to realise that this is what i should expect from the majority of the medical society.
I cannot understand the ignorance of the medical society and I do not think that Dystonia being a rare condition is a good enough excuse for their lack of knowledge and behaviour. We go to doctors for a diagnoses, information, tests and treatment. We do not attend a doctors clinic to tell them what to do, nor should we have to, yet I have, several times, been put in the position where I have had to do just that.