Posted in Archive, December 2020

Genes and Dystonia

Following on from yesterday’s Facebook live where we touched briefly on genetic causes of Dystonia, I wanted to delve into this a little more. DYT1 gene is the cause of some cases of early onset Dystonia and seems to be the one people are aware of. However there is a number of other genes that can cause Dystonia. Knowing whether it is a genetic cause is worth investigating as treatment can differ. For example I have the GCH1 gene which is the cause of Dopa Responsive Dystonia. I’ve lived with my symptoms for eight years and only recently found this out. I’m now awaiting to start on the appropriate medication for this particular type of Dystonia.

Taken from http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015000400350#:~:text=DYT6%20dystonia%20has%20an%20autosomal,no%20sex%20differences%20identified9.

Being diagnosed with Dystonia for the majority of people is a long road, and more complicated still if you don’t know the medical history of your parents, grandparents etc. I haven’t had contact with my father for years but I know from my mum that he had hand tremors and was often called shakey. Now this could be caused by anything and that’s important to remember but based on the fact that my hands also spasm and tremor it’s a significant point.

When I was on the initial road chasing for a diagnosis only one doctor recommended genetic testing and this was never followed up on. I then spent years fighting against the label of functional Dystonia, which seemed to being applied purely based on my previous traumas. It became a frequent sticking point, one in which I often pointed out that fighting for treatment and belief was by far more traumatic at the time than issues I’d already worked through with therapists.

It was only after resorting to private genetic testing that we discovered that I had a genetic cause; I’d been blaming it on a horse riding accident for years purely because my neck spasms started shortly afterwards.

So does having a genetic cause change anything? Yes! Some types of Dystonia are far more likely to respond to Deep Brain stimulation, while others respond to specific medications better.

It is important to remember however that not all Dystonia causing genes are known yet. This is one of the reasons family history is so important. I only went digging into my genes after my maxfax surgon mentioned that their appears to be a link between Ehlers-Danlos Syndrome and Dopa Responsive Dystonia.

Other causes can be medication induced (tardive dyskinesia), brain injury, as a symptom of another condition etc. If you have concerns over the root cause of your condition please speak to your neurology team.

Posted in Archive, December 2020

International Day of Persons with Disabilities 2020

The theme this year is ‘not all disabilities are visible’. This is stressing the fact that not every condition is immediately visible; according to the WHO report roughly two-thirds of people with a mental or neurological disorder will put off going to a doctor for help largely in part due to stigma, discrimination and neglect. As someone who has very much been on the receiving end of this trio when it comes to living with multiple neurological conditions, this comes as no surprise to me.

Looking at me as I am right now, curled up on the settee trying to not make to much noise so as to not wake the kids, you could be forgiven for not knowing I had a disability; even if your keen eyed and spotted my odd eyes you wouldn’t know that my sight was impacted and would be unlike to think too much about it. However even when you can spot my spasms or a dislocation, you cannot see my brain fog, my sensory loss, the neuropathic nerve pain, no one can see fatigue fight, the pain induced insomnia, the sixty odd dislocations a day and so much more.

Spot the faulty eye

I love talking with young children about my disabilities because they don’t hold back. “How does your chair work?” “Can you get upstairs?” “Do you have to put you your chair in the bath?” The look of fear on the parents faces as they worry that something not deemed politically correct may be asked is what I find disheartening. Without these beautiful minds being curious how can stigmas be fought against, broken down and normalised? This should be praised and encouraged. I appreciate that not everyone will want to be asked, but you’ll be surprised by how many people are more than happy to discuss these things.

Disabled people, whether the condition is visible or not, physical/mental/learning or otherwise are still people. Next time, pause, maybe ask a question, you could be amazed at how it opens your eyes.

Posted in Archive, February 2017

Ignorant Drs

When you’re chronically ill you rather quickly get a feeling for the attitudes/how well informed the Drs in charge of you are on your conditions. IF you’re lucky you get a wonderful open minded Dr who takes the time to listen to you, my neurologist is a perfect example of this and has always fought for me. However, and sadly it seems more frequently, you come across Drs who are either simply not up to date (with everything they have to know this is understandable), or they just seem to enjoy being ignorant on the matter.

In 2012 I was admitted with worsening Dystonia to a nearby hospital, during my inpatient stay I developed pain triggered non-epileptic seizures. They completely dismissed my Dystonia and told me that it and my seizures were completely psychogenic and that the only treatment I would benefit from would be psychotherapy and that the seizures could not cause me any harm. This diagnosis was based on the fact that in my early teens I’d been physically abused, it didn’t matter in their eyes that I had sought years of counselling, and had put that section of my life far behind me. Months later I met my wonderful neurologist who confirmed my original diagnosis of Dystonia and informed me that my seizures had absolutely nothing to do with my past, but were caused by my body’s inability to cope with the significant levels of pain that I experience.

I have over the last few years been told repeatedly that my seizures cannot cause me any harm. It’s always fun to point out to the Dr at this point that this isn’t true when it happens on the stairs, or from standing, or crossing a road…the list is endless. In recent months, my POTS & EDS consultant has queried whether my seizures are in fact related to my POTS and autonomic dysfunction, but again this falls on deaf ears amongst my current local Drs.

It’s coming up to 5 years since my first run in with this particular hospital and their attitudes have not changed in the slightest. Last night I was taken by ambulance to hospital after having a seizure, I collapsed from standing and gave my head a rather good whack on the loo as I fell. Normally I wouldn’t go to hospital straight away for this, but due to hitting my head and being pregnant the hospital advised me to call an ambulance. This turned out to be a good call as halfway there I had another seizure which negatively impacted my breathing.

I’ve spent a lot of time in and out of the hospital recently due to my faulty body, so have got to know the staff in the wards relevant to me quite well. This also means I now dread every single visit. When the Dr came this morning for the ward round I felt like holding a hand up and saying chill I’ll leave now. He leaves me doubting my own sanity each time. However, I held my tongue and heard him out, just in case he’d actually done some research over night; he had not. Instead he gave me the usual lecture and then threw in that after discussing my case with a consultant, that has never met me before, they were going to refer me for psychotherapy for my seizures.

I’m beyond angry. At the back of my notes, and I inform the staff of this every time I am admitted, there is a letter from my neurologist explaining my seizures, explaining that it’s not just in my head and as clear as day states I need IV muscle relaxants and painkillers during one, and that there is no psychological deeper issue that needs dealing with. However, it’s become apparent that turning to the back of my notes and reading this letter is a far too complicated process.

Having to go through the same frustrating and time wasting process every single time I visit this hospital is exhausting and frankly disheartening.  I know that I did need to go yesterday and get checked over, but coming up against the same walls over and over again leaves me feeling like I would be better off avoiding this hospital at all costs and I can at least self-treat at home to a degree. It’s sad that 5 years on from my first encounter at this hospital, the same issue has yet to be dealt with.a560572834e8e4ffb7ca4d1e3f2e4337

Posted in Archive, June 2015

A sea of Drs

Today, as is usual for my six weekly routine, I went up to London to see my neurologist for my injections. I sat in the waiting room running through my list of questions with my mother “Whats the likely hood of the injections making my CRPS worse again? How likely am I to pass on HLA-DRB1 type Dystonia?” etc. The patient before me stumbled back out towards us all a flutter mumbling to her partner how she could not believe the Dr was leaving. The importance of my questions vanished. My neuro, my glimmer of light in a sea of Drs who drive me to the ends of my wit and leave me wanting to throttle them, leaving? I was vaguely aware of my mum pointing out not to get emotional until he had confirmed what I had overheard.

Sadly my neurologist is moving to another hospital where they do not run a botox clinic. He has asked that I email him regular updates, and has said that if things ever take a turn for a worse I just have to ask for a referral to him and he will see me. All this is extremely sweet and reassuring. I’d like to say I smiled and congratulated him, but if I’m honest I cried…a lot. It may seem like a small thing having to transfer too a new neurologist but when I first became ill I had several absolutely hideous neurologist who dismissed my symptoms. They blamed them on stress and my history of abuse, they refused to listen when I pointed out that I had become ill at a point in my life when I was the happiest I had ever been and had moved on from my past. My neurologist was the first to take me seriously and help me. I’m terrified of being handed over to another heinous consultant.

I have one more appointment with my Dr before he leaves, which will give me an opportunity to thank  him (without crying this time) for all that he has done for me. After that it will be the start of a new chapter, hopefully one just as positive.

Posted in Archive, May 2015

Abuse… A Doctors Get Out Of Jail Card

I hadn’t planned on writing this. Originally I was going to keep it pent-up. But the whole point of Dystonia and Me is to share with you all the highs and lows of this condition and the many battles I fight along the way. As I mentioned in a post during awareness week, I was abused physically and emotionally as a teenager. I have since had a lot of therapy to help me come to term with this and move on from that period of my life, which I have done. I have always strongly believed that you should be completely honest with your doctor. After all how else are they meant to successfully treat you if they do not have all the information they need?

The way many doctors have treated me after learning I have a history of abuse has left me wishing I had never informed them of it. This specifically applies to my GP.  It seems that every aspect of my sanity has been called into question. I have never been so insulted. Yet it would seem that I am expected to roll over and accept this as the norm?!

My GP called me into a meeting to explain himself last week. At the time I was slightly pacified. Yet as I sit here, redrafting blog posts for college (exam prep), I find myself becoming incensed. This same routine has gone on for years now. Is it really so hard to believe that an abuse victim can move on with their life and be coping well, despite having a movement disorder? I am absolutely fed up of having to reassure him over and over that I am not depressed, that my past is not the route of all my problems. Even informing him that the genetic test showed that the Dystonia was genetic did not seem to make a dent in his warped view. As I keep pointing out to him, I am not the one dragging up my past it is him.

It worries me how little so many doctors know about Dystonia. My GP has looked after me since 2012, and yet still clings to the idea of abuse being the root of all my problems. This is despite having letters from my neurologist and my cognitive behavioral therapist telling him that my past has nothing to do with my Dystonia. I know that I am not the only sufferer experiencing this problem. Having to fight against doctors is hard. Standing up to them is frightening, I respect my GP, but at the same time he angers me so much because he is not taking the time to listen to myself or my neurologist. By standing up though there is a chance he may learn. I keep hoping…you never know. He may change.

Posted in Archive, May 2015

Trauma & Dystonia

Since I developed Dystonia in 2012 my past has been dragged up by varying Drs, repeatedly. I was physically and emotionally abused as a young teen for a period of a time, with the support and help of my loving mother and friends I managed to come out of this dark time as a positive, strong person. I had many years of counselling to help me put me put to bed that year of my life.

Unfortunately my GP loves to relive the past and enjoys rehashing old news. He has currently managed to convince himself that my ‘tragic past’ is the cause of my medical conditions, and that they are psychosomatic symptoms. In any other circumstance I would be upset at his words. However I have a lovely letter from my neurologist stating that my history of abuse has nothing to with my current organic symptoms!

I’m not sure why my GP has decided to ignore this letter, perhaps it is just because it makes life easier for him, after all I am a complicated mix of medical conditions but that’s no excuse for his current degrading tone and behavior. I can’t help but be concerned and wonder how many other Dystonia suffers are subjected to this behavior?!

I can only hope that as awareness for the condition spreads the attitude around it changes too.

Please check out today’s VLOG which is on the same subject https://www.youtube.com/watch?v=CJZz7_EMUtE