A Medical Zebra, a Post for Rare Disease Day 2018

Where it all began

When I was in hospital two years ago I became a medical guinea pig. Most of the time I didn’t mind, it was a teaching hospital and the young doctors needed to learn. I was a rare case and difficult to diagnose.

When I first arrived at the hospital the first words uttered by a doctor were Multiple Sclerosis. My symptoms were very similar to MS but the doctor made a classic mistake of looking for horses when in fact I was a zebra. It’s a strange medical term but basically it means that most doctors will go for the obvious diagnosis (horses) which are more common, but some cases are not so obvious (zebras) and more rare. My condition is very rare, one in a million worldwide!

At the time, after days and days of testing, podding a poking to an extreme extent, my diagnosis was Transverse Mylelitis, another rare condition. This was later changed after more podding and poking and blood tests to Stiff Person Syndrome with PERM, but more about that later.

An MRI Scan had ruled out MS as I had no problem with my brain (although some may disagree with that but they are not doctors.) A Lumber Puncture had ruled out further, more obvious conditions. I had my legs pricked with little pins so many times that I looked like a pin cushion. The defining test had been the planter reflex, or in laymans terms, the tickling of my feet. When an object, usually a pen but they did have ‘proper’ tools for this, was brushed up the soles of my feet I didn’t feel a thing, but my toes shot upwards. This, my friends, is not normal. I had no control over my little tootsies, and still don’t but tickle my feet and they’ll shoot up. This is called the Babinski sign and is supposed to indicate a problem with the spine and that’s where my diagnosis of Transverse Myelitis came from and it means inflammation of the spinal cord. There is also a test on the hand, the Hoffman Sign, which is indicated by an involuntary flex of the thumb or forefinger when your middle finger is flicked. Oh, it’s all very technical you see.

Back to the student doctors. They were there every day and most times I agreed to let them take a pod and poke of my poor lifeless legs. Some days I was not so willing and I’d tell them to piss off. Well, I’m sorry, but when you are ill you just don’t care. On one particular day I had ten, yes TEN, students around my bed, with the curtains drawn it felt very claustrophobic. My consultant had visited me beforehand and asked me to stay quiet unless I was asked any questions. I think he had become a little fed up of my saying, no, you don’t do it like that, or try doing this, because I believed I’d become quite an expert in all the tests. Well, you would do if they were performed on you several times a day for a fortnight. Not only that but as soon as a doctor had performed a test and left I’d be on google finding out why. That’s how come I know about the Babinski and Hoffman signs.

So, I’m lying there like a good little guinea pig while these students do their tests and basically they haven’t got a clue what they are doing…but I did as promised and stayed quiet. I tried to concentrate on things like how smooth my legs looked considering they hadn’t been shaved for two weeks. I put up with having my legs lifted and dropped, I think this was fun for them because they all seemed keen to have a go, and they pricked me with pins, tested my reflexes (they got the Hoffman’s completely wrong) and pinched me after asking me to shut my eyes, oh they were mean! Then the consultant asked them what they thought was wrong with me and pointed to them one by one for their diagnosis. The first guy said Transverse Myelitis, but the second say Guillain Barre, after that the rest of them said Guillain Barre, talk about a pack of sheep. I so wanted to congratulate the first guy but I stayed quiet.

I stopped allowing students after that, there is only so much you can take and I’d had enough. Plus, I was starting to feel better, it’s one thing being poked, prodded, pricked and pinched while you are immobile and numb, but once I was feeling more I just couldn’t take it.

I left hospital with my Transverse Myelitis diagnosis and the assurance that I would be recovered in a couple of months, if not, then six months at most.

The New Diagnosis

So when I went back to my consultant eight months later with no recovery at all then I was sent for more tests. I had more blood tests then a EMG and NCS.
The EMG, or Electromyography, involves long needles pushed into the muscles to record any evidence of abnormal activity. Some people hate this procedure, but I didn’t feel a thing. Then came the NCS or Nerve Conduction Study, this is where they electrically stimulate the nerves to see if they react correctly. Again, I didn’t feel anything in my legs but apparently they behaved appropriately. Then they did my arms and boy did I feel that, it was just like having electric shocks…don’t touch a plug with wet hands! But, I was distracted from the pain as each shock made my fingers move like a robot, it was really fascinating.

Once all the results where collated my consultant decided that I had a form of Stiff Person Syndrome, Progressive Encephamyelitis with Rigidity and Myoclonus. I’m still not hundred percent sure that he’s right, I talk to other people with the condition and I can’t relate entirely with them…but then they don’t relate to each other, it seems each one of us is different but we are all diagnosed by anti bodies found in our blood. I guess if the condition was not so rare then there would be more similarities between patients, who knows?

Back to the Present

Since my diagnosis of Stiff Person Syndrome I have been trying out treatments that could make a difference. First I was given a big dose of steriods, intravenously for a week then in tablet form. The only thing they did was make me blow up like a balloon. So my consultant put me forward for IVIG, (Intravenous Immunoglobulin) which I’ve been having for nine months now. The first couple I only had a minor improvement but the third one was much better. I think mostly because I stopped expecting a miracle and settled for improvement instead. I have a LOT of symptoms which I won’t bore you with now (well done if you’ve got this far!) I have to be grateful for the lessening of any of these symptoms and the IVIG does help. It just doesn’t make me walk again and that is my biggest wish, my dream. I won’t give up on it, ever. I know my condition is progressive, but I’m not going to give in just yet.

Rare Disease Day 2018

28th February is Rare Disease Day, when those of us with rare medical conditions shout out loud, look at us, we are ill too. Find us a cure!

I’m one in a million. I’m a medical zebra!

I wish I was a horse!

a zebra in a field of horses

 

School Runs and Shopping Trolleys
Naptime Natter

15 Comments

  1. February 26, 2018 / 6:40 pm

    My youngest is a rare one with her with her type of hearing loss….After playing at being a guinea pig with her heart condition I said no to the doctors using her for her research with her ears….
    Good on you for letting them prod and poke you…I would have got sick eventually too.
    Zebra’s are special and so are you!

    • February 27, 2018 / 12:06 pm

      aww thank you Kim x I can’t blame you for not letting your daughter be a guinea pig, it’s different if it’s yourself. x

  2. February 27, 2018 / 5:54 am

    Hi Anne, reading your post reminded me of when Gregs was admitted to hospital for test after painful test. He was only about eight at the time. He had an EMG and it was the worst thing I ever had to sit and witness. He doesn’t feel pain like we do, but he felt that. The Doctors kept calling him a medical mystery as they suspect muscular dystrophy and then Charcot Marie Tooth and it turned out to be neither. We left the hospital with a diagnosis of an unknown myopathy, which is now official. The diagnosis of autism came much later and I believe was overlooked partly because of the myopathy (coupled with medical incompetence)… That saying is so right. Doctors much learn that not everyone is a horse, that would make life far too easy… I hope that one day you will be able to walk again too. I’m sure you have your down days, but I do admire your tenacity.

    xx

    • February 27, 2018 / 12:10 pm

      I know a lot of people who fear the EMG, I guess I’m lucky i didn’t feel a thing. My only concern was rolling over, I knew he’d but needles in me but I didn’t know he’d taken them out again and I was afraid of rolling over onto my back! My daughter was the opposite, she was diagnosed with Autism and her other conditions were largely ignored because of it. That’s until her neck broke, even then they wouldn’t believe that she hadn’t had an accident.
      Yes, Drs definitely need to look outside the box sometimes.
      xx

  3. Susan B
    February 27, 2018 / 9:54 am

    I am also a zebra: my diagnosis took 45 years.

    I actually diagnosed myself and luckily had a good GP at the time who, although she had never heard of my rare disease, kindly agreed funding to get confirmation of my self-diagnosis. Even now, despite the specialist’s confirmation of my diagnosis being on my records, doctors still doubt me simply because they have never heard of it and their default position is that a patient couldn’t possibly know more than they do.

    British GPs need much more training on rare diseases and British patients need much better support and funding for research into rare diseases.

    Thank you for your post. Hooray for Rare Diseases Day.

    • February 27, 2018 / 12:12 pm

      I totally agree! I got told off for self diagnosing when i had my first hemi-plegic migraine, but it was put in my medical notes…and I’ve had a few now.

  4. March 1, 2018 / 5:58 pm

    So far so good! Your thoughts are amazing and I have no doubt in this. I personally Never believe mass media or even low standard writeups. You are amazing and thoughtful. Keep it up. Dr Mathew hall , I have a almost free offer just for you. https://goo.gl/qK5ZYZ

  5. March 8, 2018 / 9:22 pm

    Oh lovely, I really hope you get your wish and one day you are able to walk again. My Dad has a really rare disease too and I know he would wish to be a horse as well, no doctors really no what is going on with him and his had so many misdiagnosis before they all sort of decided on the most likely thing it could be. Sending you lots of good vibes and, by the way, I always thoughts zebras were pretty awesome xx #blogcrush

  6. March 12, 2018 / 9:37 am

    Raisie Bay, I do hope your zebra turns to a horse — that they find out the why’s and hows and allow you the ability to walk again. I am so sorry fo ryour suffering. Don’t give up. You are wise and strong and must believe that one in a million can be a good thing too! Sending hugs #blogcrush

  7. March 22, 2018 / 4:08 am

    When I originally commented I clicked the -Notify me when new feedback are added- checkbox and now every time a remark is added I get 4 emails with the same comment. Is there any way you possibly can take away me from that service? Thanks!

    • March 22, 2018 / 11:16 am

      I’m sorry, I cannot find your original post to correct this. Did you post under a different name?

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A little Note About Positive Reviews on Raisie Bay

A little Note About Positive Reviews on Raisie Bay

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