It’s been a few weeks since my last post, as some of you will know from my Facebook page I took time away whilst my son had a major surgery. Now things are settling again the posting schedule will be returning to normal.
So what’s been happening? My neurologist and I have been trialing different medications over the last three months to try and improve my quality of life, bring my pain levels down and reduce the number of Jaw Operations I have. We tried a number of different ones before landing on trihexyphenidyl. This medicine has been life changing. It’s drastically reduced the constant jaw spasms, and whilst they are still there the severity is reduced and manageable. We’re still playing around with the dosage to see how much further we can control my spasms. It’s been amazing.
I’m still waiting for a Barrium Swallow test to confirm my chronic Aspiration and give the dietician an idea of what thickness fluids need to be to help stop this. In the meantime the speech and language therapist is checking in regularly to ensure I’m doing ok.
Currently I’m waiting to see my Gastro Dr as my GI symptoms have returned. It’s extremely painful to eat or drink anything heavier than a cup of tea. I’m pretty much living off sugary tea in the meantime to get by.
On a more positive note I’ve just signed a three ebook deal for my young adult fantasy series which is very exciting. I feel very fortunate that this is something I can do from home while the children are asleep, as given the severity of all my conditions on my body a typical job is out of the question.
Finally I want to say thank you for the support I’ve received over the last few weeks. It’s been extremely touching. Now that this post is up and you are all caught up I’ll be back to posting my usual blogs from tomorrow.
With the introduction of the new lockdown I had had been planning on getting crafty with the kids again. That idea was snuffed out after an email landed in my email box confirming that nursery would be doing live home lessons followed by tasks to be completed, photographed and emailed to his teachers. All well and good except my partner works shifts and I have an 18 month old whose favourite word is no, also takes no as a yes and will most deffinently try to touch every key on my laptop.
So today was the first home school lesson. After half an hour of technical wrestleling we finally got on to Teams and were met by a chorus of STEFAN. The children were happily mucking around with each other, my daughter was desperately trying to join in and the teacher? Her laptop had the same issues mine had to start with and never made it to the lesson. Round two tomorrow!
Dystonia and Me Holistic Health Coaching is officially up and running which has added a lovely touch to my evenings. I have been thoroughly enjoying chatting with different people with a range of issues and starting them on their journeys with me.
I would love to hear if any has had the vaccine yet? From the calculator I predict mine to be late Feb to March at the current injection rates and would be interested to hear your experience in the comments. I personally will be accepting the offer of the jab, I just would like to go in to it eyes open to side effects.
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.
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.
Today I had a meeting with speech and language to assess my ongoing difficulties with swallowing. Some days the issues fade into the background and are not to much of a problem, other times I struggle to swallow anything which has previously resulted in over a week in the hospital on IV fluids and having a temporary NG tube placed. I had no idea what to expect from the appointment as I’ve not met with speech and language before.
She came to my house, and was immediately met with Stefan and Evie talking a thousand miles a minute, both very curious over her PPE. We discussed my symptoms and long medication list and then she got down to examining me. She had a feel of my throat whilst I drank an ensure and picked up my usual spasms. While we were talking I was doing my usual post meal coughing, something that’s mild enough that I don’t really notice it, nor was I aware that my voice then became hoarse something my partner brought up.
The speech and language therapist explained what was happening was due to my spasms that I was aspirating during my meals. She’s arranging a barium swallow so they can get a look at the extent that this is happening. It also explains why I keep getting such bad chest infections; the last one left me needing two rounds of antibiotics and a course of steroids.
She mentioned the possibility of a PEG tube again, something that’s been circled around for a while, as well as refferal back to the dietitian. This will hopefully be after the barium swallow has been conducted as this should show what consistency of liquid will be best for me.
I’m feeling quite positive about it all after today’s meeting and will be hearing from her again in four week for an update.
If you’ve been following my blog for a while, or if you’ve been here since the beginning, you’ll know that pacing (for many years) was like a swear word to me. The doctors threw it around a lot, really pressed the importance of it, but no-one really explained how to implement it properly into my life. I felt like I was being told to sit down and accept my fate of not being able to do anything, anymore. As someone who likes to be busy, I didn’t accept this instruction.
Don’t misunderstand me, I tried. I’d manage a few days of what I viewed as pacing and then I’d slip back into my old habits, trying to live a normal life of activity with no adjustments. The consequences of doing this was that I hit that ’empty spoon’ wall hard and often. Each time regretting it as I then took days to recuperate.
I’m currently coming towards the end of the 3 diplomas I’ve been studying, in Health, Wellness and Life Coaching – specialising in life management with chronic illnesses. I’ve loved the course itself but seeing the difference applying it to my daily life has had, has been amazing. It’s completely changed my understanding of pacing and therefore helped me to apply it to my life with ease.
Yesterday, for example, I was feeling much better than usual so I asked my son what activities he would like to do. I had already decided I would say yes to whatever he chose to do and would find a way to adapt it if needed. He asked to cook with me. So we got the soup maker out to eliminate the amount of cutting and hot heavy lifting of pans. He loved peeling the onion and garlic, cutting out the amount of herbs. It was a gentle session, sat down and full of laughter. I know energy filled days won’t always be here even when I’m 100% on track, but by pacing, asking for help more etc.it reduces how often flare ups will happen. It’s making a huge difference not just to how I’m coping physically but also to my mental health which has had a real boost.
When I met my partner Damon back in 2016 I was upfront about the fact that I had a whole host of chronic conditions some of which would deteriorate as I aged. It was a subject that I broached on our first date, romantic I know, but it was important to me that he knew life with me would not be an easy one; our first date lasted five hours. What was meant to be coffee, turned into a museum trip, and hours spent talking on a bench overlooking the River Cherwell. At the time my Dystonia was my most limiting condition. The EDS was annoying and had its fair share of debilitating moments but in comparison was easy enough to deal with.
However over the years with a good combination of medication and very regular Botox injections my Dystonia is often far more controlled, yet my EDS has spiralled dramatically so. My jaw which takes the brunt of both conditions is in need of replacement yet both conditions make replacement not necessarily the easiest call for my surgical team; it’s an ongoing argument. My knees are in a similar state. They too need replaced. They currently sublex at 0 and 30 degrees constantly yet bracing doesn’t seem to work due to the change in position with each time the knees come out of place. I frequently joke that I’m falling apart and honestly it feels that way.
The latest part of me to be affected is my hearing. My hearing tests have showed that im hearing impaired and im awaiting further appointments on the next steps to see what aids will help me. Whilst my hearing being affected isn’t overly surprising, it wasn’t something at 27 I expected to be told. However after almost a year of struggling I knew it was time to give in and get some help.
If you look at me you could be forgiven for not realising anything was wrong. Which is one of the reasons Rare Disease Day is so important. Disabilities come in all variations and I for one never look the same one day to the next.
One normally feels in control of their body, if they want to pick up a pencil or smile they can do see without a second thought. So who is in control of mine?
In July I lost control of my mouth, then in august I lost control of my eyes, and now in September I have lost control of the majority of my face, my right arm and hand. So who is in control?
Dystonia is a neurological condition so therefore it is the basal ganglia that is in control of me, or at least that is what the medical profession say. Personally I have an image of a tiny little alien bouncing around inside my brain with a wicked grin on its face, cackling away to itself whilst deciding what part of my body is going to do what today.
So little alien if you can hear me, as much as I can understand that what you are doing in there must be a hell of a lot of fun, could you give me an hours break? Just so my muscles can relax.
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.
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