As you may know if you’ve read my blog before I am a disabled mother. I was diagnosed with Transverse Myelitis on Jan 1st 2016 but my consultant changed that diagnosis just a year later after some tests showed that I have Stiff Person Syndrome. I wanted to record the start of my journey here on my blog, mainly for myself, but also so I can let people know why I am the way I am. This post is very detailed and probably not much interest to anyone else, so please forgive my self indulgence. If, however, you would like to know more about what is wrong with me then please read ahead.
To make the diagnosis my neuro consultant took blood tests and I had an Electomyography and Nerve Conduction Study last September. A Stiff Person Syndrome diagnosis is usually proved when a certain anti body known as Anti-GAD (not to be confused with Aunty Gladys which I’m sure many of us have) is present. Well, I don’t have it! So I thought I was in the clear. However, it turns out that I have another little critter of an Anti-Body doing the rounds known as a Glycine Receptor and this can be a culprit for Stiff Person Syndrome. Also, the electrical needles I was poked with added to the results. I have a sneaky feeling that this is not the end of the diagnosis period. The consultant mentioned something called Progressive Encaphalomyletis with Rigidity and Myoclonus, PERM for short (now that brings back memories!) It’s not officially written in my notes yet though.
How am I affected?
Well the consultants main concern was my rigidity. I already have several muscles in permanent seizure, i.e. completely stiff. It starts from my lower back and moves down to my upper thighs. My lower leg muscles are also pretty stiff and so are my feet, but not quite as rigid. This makes it difficult for me to walk and when I do walk it’s with, what is called, a spastic gait.
I also have periods where my muscles spasm in and out of rigidity and this is more painful. It’s like muscle contractions that I cannot control, they can last anything from second to minutes to an hour. Thankfully, at the moment, it’s generally shorter rather than longer periods. These happen anywhere from my ribs to my toes.
Then there is the myoclonus which is a rather fancy name for jerks! They happen frequently but not constantly. I mean, I’m not lying around jerking like a fish out of water, but I do jerk quite a lot intermittently throughout the day. I’ve noticed they happen more frequently when I am more uncomfortable, like in my wheelchair for a long time, or if I need the toilet.
What Has Happened to Me?
I’ve become one in a million! Well, actually, the figures are not even known it’s so rare but yes it’s less than one in a million worldwide. No-one really has the answer to why it happens and I had enough tests under my last diagnosis to know it was not caused by any nasty little disease or germ. They even took a sample of my spinal fluid to test, that was fun! Well, actually it wasn’t too bad because they did it at a time when I was paralysed anyway and I didn’t feel much at all. Then afterwards I had to lie on my back for at least two hours to prevent a headache…well, eh, paralysed! I didn’t move for another 12 hours at least afterwards, no headache, yay for small mercies.Just like TM I had some kind of inflammation on my spinal cord which has affected the myelin coating and in turn made my central nervous system go wonky. Now I know that it was the naughty little glycine receptors that started the battle by triggering my own body to attack itself. Hence, it’s also considered to be an auto-immune condition. But like I say, not a lot is really known about it.
What Can I Expect?
Again, not an easy one to answer. Some people suffer mildly for many years, some progress at an alarming rate, some die within one to three years (But lets not focus on that!)
I may get better if the right treatment is found and works on me. But, the truth is, this is a progressive condition so it’s certain that I will get worse at some point. Some sufferers have had remission after treatment and have been able to get back to a relatively normal life. Some have just become worse. I have no idea which one I will be but I do have faith in my consultant who is now prepared to work through the treatments available with me.
Pain is one of the big issues. Neuropathic pain is difficult to treat despite there being treatments available, people do not seem to have much success in being pain free.
I have pins and needles. That’s the simplest way to describe it, but it’s much more. Everyone gets pins and needles, they are uncomfortable. If you’ve been sitting in a certain way too long you may find that you get pins and needles in your foot or leg. You get up, you walk around, you may even shake it a little or massage it. Then it goes away. Mine doesn’t go away, not ever. It’s not just the general tingling either, it’s the really, really strong one that makes you hop on one foot because it hurts to put your affected foot down. I have to live with that daily. At first I didn’t want to put my feet down, it was like walking across a hot shingle beach bare foot. After a while I got used to it, and now I just do it whenever I can, but it’s never for very long.
I have the pins and needles in my feet, legs and my hands. They are much milder in my hands though, thank goodness. They bother me most when I’m in bed and trying to sleep. It’s so hard when you are just throbbing everywhere.
I also get spasms where my muscles go into deep contraction. It’s generally in waves and really hurts. It’s not permanent though and at the moment I can bare it, just about. The worst, I think, are night spasms. I will wake up and my entire lower body is in spasm, everything is contracted and tight and I feel like I want to escape from my skin. This can last from a few seconds to several minutes. My body will contort in spasm and I feel like I cannot move any part of me. The scary thing is, these spasms are moving up my body and lately I’ve been getting more around my ribs and chest area. These are scary because it feels like I’m being crushed. I have to do my best to keep calm when this happens as stressing out can make it even worse.
I get back ache on a daily basis, it comes on if I sit too long, or even if I stand too long. It’s often there when I wake up. Thankfully, my painkillers do help my back pain.
I get a burning sensation down the back of my legs and in my feet. This happens when I’ve been standing too long, probably while cooking or washing up. I have a stool to sit on while I do things in the kitchen and I have to use it when this pain comes.
I will be on treatment for the rest of my life. I will need to keep taking medication to prevent this illness from taking over my body completely. There is no cure, so slowing it down is the only option.
I’m currently on high dose steroids. I had five days of intravenous steroids in hospital. This meant they could give me a high dose with less risk of ulcers appearing in my stomach. Now, I’m on pills which I will be taking for four months and slowly weaned off.
I take drugs for the neuropathic pain which must help a little because I feel dreadful if I miss a dose. Sadly they don’t work too well though and I may have to increase my dosage.
I also take drugs to help the pain so I can sleep, I take anti-acids to counteract the side effects of the steroids and Calcium to increase my bone strength.After the steroids, if I’m no better, or I get worse again, the next step would most likely be IV Immuniglobin. This is a mixture of anti bodies derived from human blood donations. I will be hooked up the drip again but for a few hours longer.
Another treatment is Diazapam, a sedative used for anxiety, but it is also good for relaxing muscles. I think I may already be too far gone for this drug, but it may be used in the future.
Other treatments involve chemotherapy and Plasma Exchange, but these will hopefully far in the future if I need them.
My prognosis is not really known because this condition is so rare. I could start walking and moving like before. I could find something that actually works against my pain. I may be able to lead a normal life at least for a while.
Or, I could just get worse. I could lose more of my muscles to rigidity and have more frequent spasms. I may have spasms so strong that they break my bones. I may start having spasms in internal organs which will cause further issues. It could progress quickly and even take my life.
I will stick to the positive side and pray that I can have some kind of life with my children and be able to enjoy things.
I will never be cured from Stiff Person Syndrome and it is progressive, so I will get worse at some point. On the other hand, I could have my diagnosis changed again to something different.
It’s all been very difficult to come to terms with. I went from having hope of some kind of recovery to knowing that things can only get worse. I still harbour some hope of recovery, the thought of living out the rest of my life like is this really depressing me.
I’m not afraid of dying but I am afraid of how my family will cope without me and I’ve already started getting as much as I can into order to make things easier for them.
I’m terrified of not getting to see my kids grow up.
I’m terrified of not getting any better and my kids having to watch me get worse.
I really don’t want to become a burden on my family.
I’m generally a positive person, always looking for the good. It’s been difficult lately but I know I need to get that positivity back and soon. I need to enjoy what I can while I can and I’m currently working on a list of things to do that will create happy memories for the darker days.
List of medication
Here is a list of my current medication just in case anyone is interested.60 mg daily of prednisolone
1200 mg Gabapentin
20 mg Baclofen
20 mg Amitryptiline
20 mg Lansoprazole
2 chewable calcium tablets with VitD
For extra pain relief when required;
(n.b. I choose which of these I require, I don’t take them all at once)