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.
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.
Currently I’m sat in the rush hour traffic on my way home from seeing my neurologist in London. It’s been a long day which upon arrival I soon expected to end in despair. Despite email confirmation of my appointment, my slot had not been added on the system. I’m a big believer in to be early is to be on time, and this slightly over anxious side of me always shows itself before appointments; being extra early was something I was extremely relieved about this time as it meant that they had time to order up the injections.
Thankfully I was seen and as usual I left feeling ever grateful that I’m under my neurologists care. He’s been a rock for me these last 8 years and continues to be. He’s agreed with maxfax recommendations to start me on Sinemet and recommended an alternative to try if this one doesn’t have the hoped for impact. Maxfaxs theory is that there are a small number of EDS (I’m CEDS) who also have dopa responsive dystonia and that I may fall into this category. I’ve not tried any of these medications before so I’m keeping my fingers crossed and hoping for some sort of dent in symptoms.
I’m planning on resting most the journey home as the injection site in shoulder always aggreviates my complex regional pain syndrome. More on this tomorrow.
When I was 17 weeks pregnant with my daughter I underwent surgery to remove a mole on the underneath of my right breast that had early cell changes. Due to the fact I was pregnant and it was a relatively short surgery they didn’t want to give me a general anaesthetic, so decided a local would do. Unfortunately my Ehlers-Danlos means I have no response to local anaesthetic and felt every cut, and every stitch. The whole process was rather traumatic and I’ve worked hard at trying to forget it.
I was admitted to my local hospital a couple of days ago due to worsening symptoms in my eye and leg. Due to this it was decided last night to bring my lumbar puncture forward to that evening. I explained that local anaesthetic does not work in the slightest for me. They decided to give me a double dose in the hope it would work; it didn’t, which I expected, maxfax team has tried injecting several times this amount with no effect previously. Now lumbar punctures are known to be painful anyway, so to know I was having one without effective pain relief was nerve wracking to say the least.
It was one of the most agonising experiences I have ever had. It took multiple attempts to place the needle correctly as they found the spaces inbetween the spinal collum to be be extremely narrow. It’s been just over twenty four hours since and I’ve struggled to move. My whole back is in horrondous pain, taking a deep breath or swallowing liquids really seems to agreviate it. I’ve also lost sensation over my waterworks which is concerning. I’ve spoken to the consultant but everyone’s answer over this is that I need an MRI, which apparently is booked but no can tell me a day or time.
I’m missing my kids loads but I know that being here is where I need to be. If this helps put a piece of the medical jigsaw in place and leads to better management that can only be a good thing. Just got to take everything one moment at a time.
Although I only received my instructions to isolate myself for the next 12 weeks from the government on Monday, we had infact already been in isolation for a week as both myself and my partner Damon bad been symptomatic. Whilst I’m pretty much symptom free now, Dame is still locked away upstairs as he remains unwell. Whilst he would only be considered a mild case, it’s worrying none the less.
We decided early on that we would follow all instructions to the letter as we know how risky a simple cold to me can be. The symptoms I had last week had me reaching for my inhalers constantly. What hit home in particular for me was our two year old son is also on the shielding list due to his medical issues. Luckiky, as much as he desperately wants to go to the park, he’s quiet happy accepting, that there’s a nasty bug outside, so for now he can’t.
It’s hard however to follow the governments instructions when my partners in isolation. For example I’m not really supposed to be particularly near our children and supposed to be three steps away from everyone. Well with Damon isolated I’m the sole parent, and they are now both sleeping in our room. There’s no alternative. But we’ve got to make the best out of a bad situation.
I’m starting to experience more spasms and pain as my Botox wears off. My next lot is supposedly in London at the end of next Month which I’m expecting to be canacled. I’m hoping an alternative can be arranged at a local hospital in the meantime.
I would love to hear how everyone’s isolation is going. So please in the comments on my Facebook page do let me know. I’m aiming to keep this isolation diary updated daily either with blogs here or VLOGS on the Dystonia and Me page.
Normally I don’t really get any side effects to medication. With one of my medications, called Gabapentin, I find that for about 24 to 48 hours after upping the dosage I am a bit of hormonal wreck, but that soon calms down and I’m back to my normal self. So when I started taking Clonzepam I expected to have no side effects, or only minor ones.
Instead I have dealt with the joys of being fine one minute and a paranoid, weeping, agitated wreck the next. The smallest thing can set me off, for example my step dad simply asked what I wanted for breakfast this morning and I broke down into tears, then this afternoon I found out that due to Fridays trip to the hospital I am not allowed to ride this week, cue more tears. Right at this moment in time I am extremely agitated, if I was able to walk I would be out the front door, seeking a decent length stroll to calm down and get fresh air. Instead I am sitting telling myself over and over that it is just the medication making me feel like this and I will soon be fine…and then the paranoia hits again.
Due to how extreme these emotions are I spoke to me GP and expressed my concerns. He has suggested that I start taking Tramadol (a pain-killer/pain blocker) daily, so that my seizures will be triggered less which in turns means I wont have to take Clonzepam unless I really have to. This sounds like a good plan to me, so I shall try it out. I do not want to stop taking Clonzepam because I would like to see how beneficial it is, so I am just going to have to suck it up and learn to deal with the side effects.
Tomorrow is another day, which will hopefully be better and brighter,
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