The Day My Diagnosis Changed.

In January last year I was diagnosed with an auto-immune neurological condition, Transverse Myelitis.

There are a few things that I have learned about neurological conditions.

  • They are difficult to diagnose
  • Everyone is different, even with the same diagnosis
  • Diagnosis can change
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.

One in a Million - living with Stiff Person Syndrome

12 Comments

  1. Julie
    January 16, 2017 / 12:05 pm

    You know what. I don't think personally they have a clue what you have and are just hanging labels whilst they scratch their heads… Just go with what you feel yourself. I think you have got better. Yes if you google stuff it's a complete minefield. Yes you are one in s million because you are you. I think that eventually your feelings will return bit by bit. After the course of steroids see how you feel. Then look in a different direction. But…. Don't give up hope. Xxxxxx

  2. January 16, 2017 / 12:44 pm

    Don't worry I'll never give up hope xx

  3. Lisa__Deller
    January 16, 2017 / 4:43 pm

    Thank you for sharing. I'd not heard of either condition before, so it was very interesting, but my favourite part of the post is your final sentence. Whatever, the future may hold, may you always hold on to that sentence #MMBC x

  4. debsrandomwritings
    January 17, 2017 / 6:16 pm

    Hi Anne, I don't know what to say. You sounds positive in your post, but I have no doubt it's hard. As you pointed out it is in your favour that you have been diagnosed with SPS, although I bet you'd rather not have had the diagnosis. And if the electrical test on your muscles and nerves was the same as the one they did on my son that is really not nice (they stuck needles into his legs and ran electrical currents through them), it has to be the worst test he has ever had to go through.

    I hope the steroids treatment you are having this week works for you and that your symptoms don't get any worse.

    Take care and big hugs.

    xx

  5. January 17, 2017 / 8:42 pm

    Yes, deb it was the needles with electrical currents, had them in my legs back and arms, but I only felt them in my arms so it wasn't too bad for me. I'm hoping the steroids have some effect too, they seemed to help a little last time I had them. Thanks for your kind comments xx

  6. differentiationiseasy
    January 22, 2017 / 11:15 am

    Sending love, I hope your new treatment helps with your condition and eases your pain. I often think the not knowing is the scariest part of any condition, and should confess to being an avid googler. Even when we know we shouldn't (in fact perhaps especially when we know we shouldn't) the temptation is too strong. Thank you so much for continuing to share your story with us at #PostsFromTheHeart it needs to read so others understand they are not alone.

  7. imummyblog
    January 23, 2017 / 9:00 pm

    I have never heard of SPS before. Thank you so much for sharing your experience. I really hope that your symptoms don't worsen. Lots of luck with your treatment. #postsfromtheheart

  8. mummyemblog
    June 26, 2017 / 6:04 pm

    I've never heard of either condition before.

    You sound so upbeat and positive which is always s good thing x

  9. Ordinary Hopes
    June 26, 2017 / 7:35 pm

    That must have been scary to learn but so good to know that there are good treatments. Wishing you all the best.x

  10. AutismMumma
    June 26, 2017 / 7:46 pm

    Your last sentence sounds out for me, stay strong, stay positive x

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