The Day My Diagnosis Changed.

My diagnosis changed on 10th January, one year and 9 days after my first diagnosis. I do not have Transverse Myelitis, I have Stiff Person Syndrome.

First, I need to talk about my feelings. At the beginning of this year I was having real trouble with coping. Maybe it was exacerbated with early January being a bad time of year for me anyway but I was feeling down because I know I’ve not really made much improvement health wise and I had a feeling a new diagnosis was coming up. I’m not a doctor but I’ve learned from talking about Transverse Myelitis with other sufferers that symptoms do improve in time. You can become more mobile and the pain decreases, but life can carry on. Of course all sufferers do have times when the condition makes life difficult for them, once the damage is done to the spinal cord it cannot be undone. (well, not yet anyway, but soon maybe.) Sufferers are split into three groups, those that recover (Although they still have symptoms) those that partially recover and those that never recover. I’ve noticed that many in the third group go on to get another diagnosis, the most popular one being Multiple Sclerosis.

Again, I’m no doctor but it can’t be denied that TM is like the beginning of MS, the difference being with TM you don’t get damage in the brain and no further attacks occur. BUT, if you do have MS then the attack on the brain can happen after the initial spinal cord attack. So, it makes sense (to me anyway) that someone with TM can go on to get MS and that TM can be the initial attack.  Both conditions are incredible similar, both conditions often take a long time to diagnose.

I suppose it’s fair to say here that I thought my diagnosis was going to be changed to MS.

However, despite my ‘new’ diagnosis being very similar to Transverse Myelitis in the beginning, there are factors which have been taken into consideration that have shown that it isn’t.

So, what is Stiff Person Syndrome? Well, it’s another rare condition, lucky me, one in a million! It is an auto-immune condition that can affect the spinal cord, hence the symptoms which mimic TM, pins and needles, spasms, banding, pain etc. However, it can be identified by certain anti-bodies in the blood.

I was tested for SPS last year and I thought I was in the clear because I don’t have the main anti-body that is present in diagnosis, namely ‘anti-GAD.’ I also had electrical tests on my muscles and nerves and my consultant has studied the results in detail. He found another anti-body in blood, I don’t know which one at the moment, which is an indicator but has only been discovered in last 5 or 6 years. This along with the electrical tests has given me the diagnosis. Plus, the anti-GAD anti-body is only found in around 60% of SPS cases.

That’s the medical bit out of the way, phew!

In general, my experience of Stiff Person Syndrome, apart from the TM similarities mentioned earlier, is the stiffness. Now, that’s a surprise isn’t it! How could I not have noticed before? Well, another symptom of TM is spasticity where muscles become stiff and tighten up…so, stiffness! I have it in the most common place for SPS, that’s the lower part of my trunk. This is why I find it difficult to walk. I also have it in my feet and my toes are permanently turned upwards, I can’t curl them down very far at all.

What happens next? SPS, is not curable but it can be treated. I may be relieved of some of my pain if the treatment works. I start an intensive course of steroids by IV at the hospital today and for the rest of the week and then continue with oral steroids for three months. Then I go back to my consultant and see if it’s made any difference. There is hope that I will feel better after this, but if not then there are other treatments available, even though they are not readily offered. The main objective will be to stop the condition from getting any worse. SPS is a progressive and the stiffness and spasms can increase.

Here is a description of Stiff Person Syndrome from The Tinman

Stiff-person syndrome is a combination of symptoms which can include muscle stiffness, rigidity, spasm, muscle overactivity, specific contractions, seizure activity, and heightened response to stimuli resulting in exaggerated startle reflex triggered by noise, touch, or emotional distress. The classic pattern begins with stiffness and rigidity of the axial (skull, spine, and tailbone) muscles and can progress to the limbs. Stiff limb variants first affect primarily the leg muscles, and occasionally the arm muscles.

If untreated SPS can lead to total body rigidity, that’s right, every part of the body, including the face so you can’t speak. Thankfully, now that I’ve been diagnosed the treatment will prevent this happening.

I’m still coming to terms with the new diagnosis, and at the moment I’m in confusion. Everyone says not to Google but of course you do, some of the sites are not very helpful at all, others focus on the real scary stuff (I’ve read several medical studies where the patients all die within a year!) I have every confidence in my consultant giving me the best options from now on. He could have just left my diagnosis at TM but he knew something was not quite right and did several tests to find out what was really wrong with me. My future does not have to be grim, just different.