After a lot of discussions with my family and my medical team we decided that it was finally time for my return to the gym. I have not been since my battle with sepsis in January 2020. However if we are being honest there was no way I could have have returned in 2020; I spent a long period bed ridden, my Ehlers-Danlos syndrome progressively worsened and that’s before we factor in Covid. My 2020 health spiral ended with unexpected weight gain of almost two stone in a month. Considering I live on 1, 200kcl a day that comes from perscriped ensure juices, the sudden and extreme gain is disconcerting.
Now while my GP is investigating causes into the gain, I’m also taking a practical approach. I used to have a fair level of fitness and enjoyed going to the gym. Whilst it left me shattered afterwards and with sore joints, I also found I benefited with less extreme spasms after. Today’s reintroduction was a gentle session for the most part, testing what my bodies current capabilities are; I chose a recumbent bike session followed by different weight lifting machines.
I certainly don’t feel as energetic as I did this morning; far from it. I’m completely out of spoons and sore. However I am chuffed with how well the session went and am looking forward to the next one.
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.
The concept of a flare box is one that I didn’t properly venture into untill I attended the Stanmore Inpatient Pain Management course back in early 2016. It was really impressed on me that this was something that could impact my pain management. As soon as I got home I set about setting it up. Almost five years on and I still use these! In fact I have one in my bedroom and a second one by my desk downstairs so that they’ll always be accessible when needed.
A flare is generally considered to be a worsening of symptoms over a fair length of time e.g a week to a month or so. This is in comparison to just having a bad day or two of symptoms, then reducing to your normal levels.
My two boxes differ slightly and reflect the area of the house I’m in. My upstairs box contains several TENs units and chargers, multiple wheat heat packs, a symptom diary and pen so I can write down anything that I think may be important to remember to tell my drs, some volterol cream, neck brace and various other splints for dislocations, earphones, lavender pillow spray, and some books.
My downstairs box has all of the above but it also has some cue cards for if I’ve struggling to physically talk, so I can just flash these up instead; these have my most used phrases on e.g please can you fill up my flask? Please can you reheat my wheat pack? It also contains some electrolyte water soluble tablets for if it’s my POTS is also worsened.
Everyone’s flare kits differ depending on what they feel they need in the flare, and my deffinently have evolved over time. For example right now both have spare socks added to them as I know cold feet induces spasms for me. So in winter some extra warming bits are a must. Plus five years ago I wasnt a mum, so there also contained a notepad with a list of easy binging Netflix show, a stash of free from chocolate and anything else that cheered me up.
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 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.
It’s a painsomnia night so I thought I would share with you all something that I’ve been coming back to frequently recently. Personally I’m a very sensitive, emotional person; now some may view that as a bad thing, others a good thing, some of you will be neutral. I can see the pros and cons, but it’s what makes me me, so yes I may cry buckets everytime we watch certain episodes of Vikings, or The Lion King but i’ll also laugh myself to stitches five minutes later. It’s a rollercoaster of life. It’s real, honest and truth.
So why do I, and I know many others with chronic illness will be able to identify with this, go on autopilot everytime a doctor, family member or friend asks after us? You know the drill, you walk into the drs room the doctor greets you and asks how you are before you get down to the nitty gritty. It’s a formality, so like a healthy person you respond with I’m good thanks, and you? It’s ridiculous! Why is it so hard to say you know what I’m actually not great at the moment and I need some help.
I forced myself to do this yesterday. I could hear the usual auto response slipping out my mouth, so I caught myself, took a breath, looked the doctor in the eye and said I’m pretty awful and I don’t know what to do. Now saying that wasn’t easy but boy did the relief for sharing the burden feel good. Making that choice to let the facade of I can cope with everything slip for a moment to ask for help took an incredible amount of inner strength and it’s something I’m going to practice doing more often. Vulnerability is not something to view in a negative light, in fact it allows others to reach out and see if they can improve your situation. Sometimes just talking things over can make a difference.
So just pause for a moment and think; are you like me and guilty of putting walls up? Is it worth flexing your inner strength and letting that vulnerability show? Let me know what you decide to do!
What can I do for you today? It’s the standard greeting I find I’m met with at every doctors appointment, no matter the speciality. Perfectly poliet, open ended so therefore inviting me to dive in to the promblem that has brought me to their office. Expcept lately that is not how that questions makes me feel, it leaves me biting my sarcastic answer off of my tongue. Fix me, take my pain away, how about just stop my constant deterioation please and i’ll make do as I am but please press pause in the meantime. Let me correct myself, it’s not sarcasm, it’s truth, it’s honest words from a scared vulnerable person who wont utter them because I know the reality is the Drs are trying but their isn’t much they can do.
I was diagnosed yesterday with Trigeminal Neuragia, along with being informed they no longer expect the sight I’ve lost (the majority of it) in my left eye to return; I can see blurry outlines but I cannot work out shapes or distance. It was a bit of a hit emotionally as whenever I have had Optic neuritis before my sight has recovered fairly well, however this has been going on for a while now and if anything the pain has gotten worse behind my eye, it is incredibly intense. I’m trying not to dwell on this too much while we await my Evoked Potential results and wait for a date for my lumbar puncture test. Hopefully these tests will shed some light as to what is going on currently.
In the mean time I feel much like this blog; I am all over the place, one minute quite happy dealing with things as they come, the next frustrated that despite almost a decade of chronic illness a level of normality is yet to be reached. I’m still fighting against the current of deteriation. It may be as useless as trying to swim the wrong way around wild rapids but it helps to know that I am trying to do something to counter the every growing pill box.
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.
At the start of January, I underwent a small surgery. I’d known for several weeks that I had needed it but due to being pregnant my surgeon wanted to wait until I was safely into the second trimester before we risked putting my body through the stress of it. I am by no means a stranger to surgery; due to my varying conditions I’ve had more surgeries than I care to think about. Whilst I was naturally nervous with all of them, this one was by far the worst. With my previous surgeries, it had always been carried out under a general anesthetic, this time, however, as much as I would have far preferred to be knocked out, I was wide awake and able to feel everything.
My surgeon had made it clear to me from the start that if he could have put me to sleep he would have done, but as it was a quick surgery he didn’t want to do so due to the pregnancy. A decision that I fully agreed with. The complication we faced was that I experience no response to the local anesthetic. It doesn’t matter the type or amount you inject me with, it does nothing. This is down to my Classical Ehlers-Danlos Syndrome. My surgical team and I have a very good relationship, and we talked at length about the possible sedative medications we could use to help me through the procedure; ultimately it transpired that the few medications that were appropriate to use I am severely allergic too. With no other options, I consented to undergo the surgery with no anesthesia or pain relief.
Clambering onto the operating table, staring up at the bright lights above and conversing with the operating surgeon went against everything that felt natural to me. My surgeon cracked joke after joke, trying to keep me focused on anything but the pain that his scalpel inflicted. Having to force yourself to lie steady, and not scream for help whilst someone is cutting into you, to try not to curl up in a ball and cry hysterically is hell. If I hadn’t needed the operation I would not have put myself through it.
I had wrongly presumed that because I can handle dislocations like a pro that this surgery would not be that much harder. Instead, I find myself waking up at night in a cold sweat, gripping my duvet, absolutely consumed with fear. Night after night I go to sleep and dream I am back on the operating table except for this time the pain never stops, the surgeon just keeps cutting bits of me away until there is nothing left.
I am fairly certain that the nightmares are getting worse due to the possibility of needing a c-section in the not so distant future due to a low-lying placenta. Whilst I know if this is the case my team will put me under for the operation, the irrational part of me has still built up a fear of once again being on the table able to feel everything. A position I hope never to be in again.