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.
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.
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 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.
Damon and I had always said right from the start of our relationship that we envisaged having three children. We both came from fairly large families, with him being the eldest of three, and myself the eldest of four children, so it seemed natural for us to imagine plenty of tiny feet running around creating havoc in the way only kids can. As my conditions were fairly well controlled when we met, the only issue with our forward planning was the fact that I had been told many years before at the age of 19, that I had severe endometriosis; to the point that they suspect I would be unable to conceive naturally and would need medical assistance to do so.
We have been fortunate to have been able to have our son Stefan Elijah, now three, and our daughter Evie Maise, now 18 months, without any assistance. Their existence to me feels miraculous. When we fell pregnant with Evie we discussed frequently trying for our third child shortly after her first birthday. It was exciting, and something I was really quiet fixated on. Physically I had managed to get back to a good place after having Stefan, and it seemed wise to do it close together, before my health started to go downhill. My pregnancy with Evie was a rough one however, and I spent multiple periods as an inpatient in my local hospital. We had hoped that after Evie’s arrival that my body would improve again as it had following Stefan. However, this time round it took months to get back in to the Botox system and once again I ended up in the hospital for over a week needed an NJ, constant fluids, unable to swallow, or really communicate. With each day the idea of a third was slipping further away, I refused to talk about it for awhile. It really affected my mental health.
While I have had periods of better health over the last 18 months, it has generally been a downhill, to the point where I’m now essentially blind in one eye, reliant on an electric wheelchair outside of the house, and being assessed for demyelinating diseases on top of everything else I already had going on. My hands are full to say the least. So Damon and I sat down and agreed that it would be unfair to even consider bringing a third child into the family; he was also concerned if my heart could physically take a third pregnancy as it has struggled with the last two. It was an extremely hard conversation to had. Even though we both knew it be the right choice to make, it didn’t make the biological want for another child any less.
I often get asked a mix of questions in relation to children. Sometimes people will ask “So when do you think the next one will come along?” It’s a well meaning question, that I always answer with a light hearted “oh my hands are full enough with two”, but it stirs the emotions, the want for another that is so strong since our daughter started to so much more independent. Other times it’s the slightly harsher “How you can even consider having biological children when you know some of your conditions are genetic?” Generally I don’t answer this question in public, mainly because it catches me of my guard. However it is fair. My Ehlers-Danlos Syndrome has around a 50% inheritance rate, its slightly more prevelant in girls than boys. Yet there is every chance that both children have escaped without developing it, there is also a chance that if they do have the condition that it’s not as severe as mine. There is no way to know. It’s also worth bareing in mind that mine is made worse due to other conditions that impact each other. I would say that before you ask anyone about kids really think; if they have a medical condition perhaps stay away from the topic until they bring it up. In can be a sensitive one.
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.
This morning I was on the phone to my mum when she brought up the fact I hadn’t blogged in a long time. I am rather good at finding excuses for why; too tired, too busy with the kids, don’t know what to say. But none of those are completely true. So bless her, I rambled for quite a while as to the reasons why.
Firstly Ableism. Honestly I’m mad for allowing myself to be beat down enough to feel I didn’t deserve a voice as an activist for people with Dystonia and other invisible illnesses anymore. Up until the last several months I had been having a relatively stable patch which I had been making the most of, and for that simple reason I felt I wasn’t ‘sick’ enough to do this anymore. Which is frankly ridiculous. I have several conditions all of which are chronic, a couple that will continue to deteriorate as I age. My good spells generally never last longer than a Botox cycle, yet because I don’t fit into a nice stereotypical tick box of what disability should look like I felt like I couldn’t blog. I expect myself to be able to do everything that a healthy person can do, because that it is what people, I feel, expect of me from many not so subtle comments for example lose weight your joints won’t hurt as much.
Secondly, was my depression and anxiety. The anxiety and paranoia I experience partially stem from post natal depression but are largely side effects of my medication. I feared hugely that holding my hands up and saying ‘Hey, I’m trying my best but I’m struggling like crazy, I’m terrified by the deterioration I am currently experiencing in my body and I don’t know to do’ that my doctor’s would somehow read this and decide to withdraw the medication that is so vital to me and pack me off for yet more counciling. That may seem ridiculously paranoid to read but when you’ve lived years of doctors gaslighting you, undermining your very real physical symptoms, skirting around the subject of mental health is now habit (though I am on antidepressants now).
I hope that clears things up. I want to blog here more. It helps to write it down and connect with others in the same situation.
So here’s a very late Happy New Year.
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