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.
Hormones, they hit us out of the blue in puberty and never stop showing up no matter how much we hope they may just skip a month. Even before my diagnosis of Dystonia my monthly visits from the witch were awful.
During my teen years my periods were unpredictable; sometimes not showing up for months and sometime arriving every two weeks. They would leave me doubled over the toilet in the night throwing up from the cramps, and going through a pad in under an hour over and over again. I spent years visiting my then GP who told me all this was normal and that I needed to learn to deal with these symptoms. It was only then when I was studying for my midwifery course that I had the courage to go to a new gp who recognised my distress and referred me to gyny. One operation later and I was diagnosed with Endometriosis.
Now my periods are worse than before and on average last 72 days. Yes you read that right. They last 72 days. Now normally they’d treat with a hormonal contraception to stop the period. Here’s where my health comes into play. My spasms, now I don’t know whether this is my Dystonia or EDS, but I can’t use any intrauterine device as the spasms physically reject it from my body which is fairly uncomfortable. The pill*/patch/injection all work on giving you progesterone however I am unfortunately one of those rare Ehlers Danlos suffers who can not tolerate this. The increase causes a dramatic increase in dislocations body wide.
*I am aware there are pills that are not just progesterone based however due to the fact I get daily migranes with aura I cannot take these as it increases my stroke risk.
Between the prolonged bleeding which leaves me severely anaemic (currently 3.1), the increase in spasms, dislocations, fatigue, it’s fair to say hormones really screw me over. So gentle hugs to all who also experience this. Remember chocolate always helps!
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.
After a week long stay I was finally discharged from one of our local hospitals yesterday evening. I was admitted due to pain in my left eye which has optic neuritis, it had become overwhelming, to the point I felt I had to apply pressure on my eye to relieve it. I had also lost the sensation in the bottom half of my right leg.
During my time in the hospital they decided to carry out a Lumbar Puncture and MRI knowing that my neuro team wanted to do these anyway. The LP side effects I’m still dealing with, I am still having issues with my bladder, my whole leg now has no sensation, and I have a permanent horrondous headache. Both tests came back clear which left the dr’s there confused. On discharge I was diagnosed with Complex neurological disorders and global sensory loss in the right leg, and told my neuro team would take over figuring out the cause.
Today I had an Opthalmology appointment at another hospital. The opthamologist in charge of my care is wonderful. I sat down, he faced me and said “So you have MS ” he was quiet matter of fact about it. I corrected him and pointed out that my tests had come back clear. He muttered that they were wrong and went on to examine my eyes. After several tests he sat back looked me in the eyes and again said “Rebecca you have M.S”. He was quite insisted that my doctor’s must have missed something on my scans due to the state my eyes were in.
So where do I go from here? Such wildly different view points, everyone agreeing that my local neurology team needs to see me again and review what the different teams have found. However getting hold of them is darn impossible. Both myself and my gp surgery contacted them a few days before I was admitted informing them I was going downhill, and needed input desperately. Neither myself or my gp’s surgery has had a response yet.
Right now I’m very emotional and very stressed. I’m taking things moment by moment and trying to just accept things as they are and get on with it. But I work best with action plans and right now I don’t even know who’s responsible for my care. I feel very lost in the system.
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.
Currently the exact cause of Dystonia is not known; though a number of problem areas have been linked to the condition. Research has shown that there is a fault with a section of the brain called the basal ganglia. It is only in a small minority of sufferers that the condition has a clear cut cause.
Dystonia can appear on its own, secondary to another medical issue or as a result of medication – this is known as Tardive Dyskinesia. At the current time 80% of children diagnosed with Dystonia have it alongside a primary condition for example Cerebral Palsy. In adults the condition can be caused by a stroke and other neurological issues.
As research is progressing more genes are being found to be related to different forms of the condition. Studies have found that some cases of Generalised Dystonia are hereditary. However even if there is a genetic issue it does not guarantee that you will pass on the condition. It is thought that there is between a thirty to fifty percent chance of a child inheriting Dystonia depending on the mutated gene and type of Dystonia. So far over 20 genes have been identified in relation to Dystonia, with more being found all the time.
The section that interested me most was on the role of GABA in Dystonia. At the moment the medical society think (but have yet to prove) that a shortage of an inhibitory neurotransmitter such as GABA could have an impact on Dystonia, as it seems that Dystonia is a failure due to inhibition. Many patients, myself included, who suffer from Dystonia are sometimes put on medications such as Gabapentin, Baclofen or Benzodiazepines. All of these medication increase the amount of GABA in the brain.
I was extremely interested to read this as I currently take both Gabapentin and Baclofen and have found both to have incredible effects on my spasms. The Gabapentin felt like a miracle drug when I was first put on it as has had a huge positive impact on my full body spasm and on my eyes! The Baclofen at the moment is having a fantastic effect on my neck spasms as well other spasms.
So I cannot help but wonder if I have found the answer I have been looking for to why I have Dystonia! I know that I will have to wait until the medical society have managed to prove if this theory is correct, but I cannot help but feel slightly excited. I am always trying to understand why I have Dystonia, and to have an answer would give me peace of mind. I may have a long wait ahead of me but I shall be keeping my fingers crossed.
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