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Raisie Bay

diagnosis

Two and a Half Years (and a couple of weeks)

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In the Beginning

Two and a half years and a couple of weeks ago I woke up with pins and needles and ended up in hospital paralysed. It seemingly came from nowhere, but I now believe I did have hints that something was happening with my body.

After two weeks in hospital I came home with a zimmer frame and the promise that after six weeks physio therapy I would be fine. Nine months later when I saw my consultant next I turned up in a wheelchair, things were not fine.

I’d had an MRI in hospital which hadn’t told them much about what was wrong with me, so my consultant did blood tests, muscle tests and nerve tests and I ended up with a diagnosis of Stiff Person Syndrome, or a specific type of SPS known as Progressive Encephemyelitis with Rigidity and Myoclonus, or PERM.

So for the first year I was expecting to get well, but exactly a year after my hospital admission I found out that not only was I not going to recover, but my illness was progressive.

Year Two

I am still in  a wheelchair although I can walk for short periods with aids. I walk around my home but I always have something to hold on to. I don’t walk outside very often, I’ve tried sticks, a rollator (walker with wheels) and crutches. They all help with balance but nothing can stop the pain and fatigue. I get so far and my body just doesn’t want to move any further.

I take a cocktail of drugs every day, but the pain is always there, I may be able to dull it, but it never goes away. Sometimes my body freezes up into a complete spasm. Sometimes I can’t swallow properly, sometimes I can’t breath properly, it’s unrelenting.

Apart from the drugs I’ve had intravenous steroids which helped in the first instance, but did little to help after the second round. I have regular doses of Intravenous Immunoglobulins (IVIG) but it doesn’t help much. I get reduced spasms and it helps the myoclonus (jerking) but it’s not a miracle cure as I’d first hoped it would be.

Parts of my body are always stiff, parts are always in pain, parts always have pins and needles or neurological pain. It affects my sleep, it affect my life, each and every day.

I also have startle reflex, so a loud noise or something to make me jump, or even an intense emotion can make me go stiff, if I’m standing I may fall, if I’m sitting or lying, it just hurts.

I also have vertigo which can come at any time and last anything from minute to hours. This makes me feel like I’ve just downed a bottle of vodka, but not in a good way. Double vision, dizziness, loss of balance, the rotten stuff.

I could go on and on with symptoms but I don’t want to bore you.

Year Three

Yes, I’m half way through my third year, my youngest can’t even remember the times when I could walk. When I used to chase him around the school playground while waiting for my older girls to come out of school.

People get fed up of you when you are sick for  a long time.  At first it’s concern;

“How are you?”

“Are you feeling any better?”

“When’s your next hospital appointment?”

“How did you get on at hospital?”

Then they get bored;

“Are you not well yet?”

“I thought you’d be walking again by now.”

I’ve even been accused of moaning too much and not getting on enjoying my life.

I’ve even been accused of competing with others for attention.

Yes, people have had enough of me and my sickness.

Do they not think that it would be my greatest joy to announce that I’ve had a treatment that has worked, that my pain has gone and I can walk again? No, for some reason I’m just a miserable old cow because I haven’t gotten any better.

The Future

Despite what some people think of me I have always been a positive person and I’ve approached each treatment with excitement and determination. Yes, it does get me down when it doesn’t work, I don’t think there is anyone who wouldn’t feel the same. I do get into some very dark places sometimes when I can see is the pain and disability and the hurt I cause others. Sometimes I think my family would be better off without me.

Then I bounce back and fill my life with happy things. I start projects that I can get excited about, something to look forward too. Plans, future plans. Even if things don’t get better I can cope if they stay the same. If I get worse then I’ll deal with that too, one day at a time.

I am working with some other Stiff Person Syndrome sufferers to gain awareness for our condition and hopefully trigger more research into diagnosis, treatments and even cures. I am reading studies, finding out all I can and most importantly, learning from others who are living with it. It seems daunting the amount of research I am doing, but it gives me a purpose and hope.

I have also decided on what I want to ask my consultant when I next see him. I’ve found out that there is a drug out there that have helped people just like me to get back some life. I don’t know if he will approve it but I’m going to ask all the same. Also, I will give up the IVIG, yes, it helps me a little but I know it’s in short supply and others gain more from it than me.

If you’ve read this far, then thank you, I know there are people out there who genuinely care. Just as I know I will never give up hoping to get well again.

 

 

Autism – If Only I Knew

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I have two, possibly three children with high functioning Autism.

If your child is not developing properly as a young child or baby then your health visitor will generally lead the way to seeing if your child has autism or other special needs. Often, though, autistic children can slip through the net and diagnosis does not happen early. My eldest child was not diagnosed until he was twelve years old. This was partly my fault, because although I knew he was ‘different,’ I did not know anything about Autism and thought he was just an awkward child.

It’s not easy to admit there is something wrong with your child.

This is often the first hurdle, admitting that your child is different, that something is wrong. With my eldest, both myself and his Dad would not accept that his behaviour was anything other than him being naughty, a typical boy. His Dad would say, “he’s just like me when I was a kid.” But he wasn’t. Well, he may have been, but his difficulties lay much deeper, his problems more complex. They appeared more obvious as he became older and he needed help.

With Star, it was different. I accepted that she was having problems just like her older brother, and had thought that maybe she too was autistic. However, I still kept my thoughts to myself until her teacher at school said she thought she might need further intervention and asked us to refer her to a child psychologist. We did, and she was diagnosed at six years old. That’s a whole six years earlier than her brother. And I’m so glad that we did because she has coped so much better with school than her brother did.

Now, we suspect that the Little Man may have issues. Only it’s hard to admit. Is he autistic or not? We have had suspicions and his early years definitely point to it, but his Dad swears he’s just like him when he was a child (Is history repeating itself?) The Little Man is having a difficult time at school and I’ve suggested we get him some help, maybe a talk with a psychologist, see if he is autistic. His Dad thinks we should move him to another school. I do think that a new school may be the answer for now, but not long term. You’d think that this far down the line it would be easier to admit to there being something wrong, but it really isn’t, not ever.

It’s Not Easy to Get a Diagnosis

This is one area that seems to have gone backwards instead of forwards. It is said that there has been a huge rise in autism diagnosis, but because of the rise it is taking longer for the diagnosis to take place.

With my eldest, I know I held off getting him a diagnosis, but once I’d got past that and arranged for him to see a psychologist, the diagnosis came quite quickly. There was an interview with me and him. A little interview with him (which didn’t really happen because he refused to speak to her.) And a report from his school. That was it, a diagnosis of Asperger’s Syndrome.

With Star, again the diagnosis was fairly straight forward. The main difference was that  instead of a report from the school, she was observed at school. Her diagnosis was High Functioning Autism.

Now we are still considering whether the Little Man has Autism or his problems are related to something else. The school has raised concerns so we went to the GP who told us he couldn’t refer him. The next step is to ask the school to refer him for assessment, but as I’ve already stated, the school has already told us they can’t  and that it’s down to the GP. Already we are being passed from pillar to post without any help and we haven’t even reached the assessment stage.

Why A Diagnosis helps.

I’ve found with both my autistic children that once they get a diagnosis things start to get better. On a basic level it seems easier to accept that their behaviour is so different because they have a diagnosed condition. They still need disciplining like any other child, but deep inside it helps to know that they can’t help it. School life can also become easier. These days a lot of school have a good understanding of the needs of an autistic child.

With my eldest it was more difficult because the school were unhelpful, they had no idea how to cope with a child with autism and their first step was to put him in the special needs unit.

Some autistic children do not have learning difficulties, my children don’t. Putting my son in the special needs unit was the worst thing they could have done and he rebelled, a lot! Eventually, after several meetings with  the school I decided my only option was to take him out and teach him at home. This triggered a whole lot of help that I wasn’t offered before.

He had a tutor that would come to our home and teach him one on one. Then he was given a place at a special school for children who couldn’t go to a regular school. This ranged from children with sickness, broken limbs, emotional problems and young pregnant girls. My son fitted in fine. He didn’t have to speak to anyone or make friends which suited him fine, but he did get to learn and eventually do his GCSE’s. It wasn’t problem free, I lost count of the number of times I had to go and collect him and bring him home because he was ‘acting up’ or being unresponsive. But, it worked for us, much better than his previous school. None of this would have been available had he not been given a diagnosis.

I’ve written a lot about my daughter at school. She goes to a mainstream school which is very good with it’s autistic pupils and she is getting along fine.

The Future

The future is the unknown with any child not just autistic ones. But deep in your heart, when your child is autistic you have to accept at some time that the future may not turn out the way you wish it to. If your child is high on the spectrum then you will probably realise that your child will always be with you and the independence you would normally expect your child to achieve someday may never happen.

With a high functioning child, or one low on the spectrum you may have hopes that they will achieve some independence. When my eldest was 19 yrs, he was put forward to a scheme of independent living, where he would have had his own little apartment but still have someone keeping an eye on him. The decision was that he wasn’t suitable for the project. Half of me was relieved, it’s hard to let your child go, but the other half was disappointed that he couldn’t go out into the world and fend for himself (or partially fend for himself at least.)

Star, has ambition, and I do hope that one day she achieves a lot more than we expect. But although I’ll encourage her all the way I will always know that her autism is the hurdle we will have to overcome if she is to achieve independence. I guess, I have learnt my lesson.  A little too late.

Check out these Autism Blogs:

http://www.stephstwogirls.co.uk/

http://autisticnotweird.com/awareness/

https://josephamazingspectrumcoat.com/

http://www.autismwithlove.co.uk/

https://faithmummy.wordpress.com/

http://www.rainbowsaretoobeautiful.com/

http://thesensoryseeker.com/

https://mummyhereandthere.co.uk/

https://mummyest2014.wordpress.com/

https://pdaparenting.com/

The Day My Diagnosis Changed.

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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

Confused – Word of the Week

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There has been one event that has dominated my week and it has left me feeling confused.

On Tuesday I had a hospital appointment to see my consultant. I’d had some tests late last year and he had called me in to tell me the results.

This year I have been trying hard to come to terms with my illness. I have been in touch daily with other sufferers via Facebook and my journey has been shared since my hospital stay last January. Reaching a whole year made me feel really low because most members of the group had shown some kind of recovery within a year, or had been diagnosed with something else, mainly Multiple Sclerosis. I began to worry that because my recovery was not happening that maybe that was my fate too. Even if it wasn’t, then the thought of never recovering made me feel really low. One third of Transverse Myelitis sufferers do not recover.

However, my trip to hospital has totally messed up my head as I have now discovered that I do not actually have Transverse Myelitis. The reason for this is because they found an anti-body in my blood which suggests another diagnosis and the EMG and NCS confirm it. I do not have Transverse Myelitis, I have Stiff Person Syndrome.

I will need to go back into hospital very soon for five days of intravenous steroids which is the first line of treatment for Stiff Person Syndrome. I won’t need to stay, I can go in the morning and come home each afternoon. Then I will have a further 3 months of oral steroids. If that doesn’t help there are other alternative medications I can be offered. It sounds good doesn’t it? I can be treated. But, they cannot promise that I will get well, only some improvement. Then I will need controlled medication for the rest of my life because SPS is not curable. SPS is progressive.

It’s been a few days now and I’ve found very little information on Google, especially concerning prognosis, and I’ve yet to find any support groups that are in the UK.

Just when I was struggling with one condition, I find I have something else and it’s thrown me into confusion.

The Reading Residence

Even I Couldn’t Imagine This!

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I saw my neuro-consultant last week, the first time since I was released from hospital back in January.
I took notes, asked tons of questions and spent the entire consultation in a complete brain fog. He had to tell me three times where I had to go next for a blood test. I thought I’d be waiting a while for my letter but it came through today, less than a week later.

I’ve always had problems with Doctors and hospitals, I get the feeling that they don’t believe what I’m saying and that I’m making up symptoms. I don’t know why, I guess I’ve been fobbed off quite a few times. Last year I went into hospital in an ambulance with crippling pains in my side. Now, I’m fifty years old and I know what most ‘normal’ pain feels like and this wasn’t normal. By the time I got to hospital I’d had an entire syringe of morphine admitted every two minutes until the pain started to feel a bit better. In fact by the time a Dr came to see me in a cubicle I was practically floating with delight. The Dr proudly claimed that I was no longer in pain and could go home. So I did, I can’t even remember how, I was so high on morphine. I slept for the rest of the day. The next day the pain was not so bad so I just got on with it, like you have to. I never had any explanation of what caused that pain but it’s not come back so why should I worry? Afterwards I did think well why did the Dr who examined me think I was in hospital if I wasn’t in pain. Did he not take into consideration just how much morphine I’d had to ease the pain. He didn’t seem to be bothered as to why I’d had it in the first place. You can see why I am a little wary of Doctors and why I tend not to complain much.

When I had my TM attack I refused a trip the hospital in an ambulance. I couldn’t face it being ‘nothing’ again and walking away like I was some complete hypochondriac.

I got my brother to take me to hospital later the same day and ended up being admitted for two weeks. I guess it wasn’t ‘nothing’ then.

Anyway, I’m waffling on again, so I get back to my letter today.
Apparently I only have a ‘possible’ diagnosis of TM. All my tests came back clear and apparently my scans were normal, despite a Dr telling me, in front of my partner, that I had inflammation in two parts of my spine. This is a little confusing to say the least.

So, do I, or don’t I have Transverse Myelitis? Your guess is as good as mine.
I do have many shared symptoms with other TM sufferers though, so I think the diagnosis fits. I guess the consultant wants to be more sure.

I had my reflexes tested and they were brisk with bilateral finger flexion jerk, Hoffman signs and Bilateral Extensor Plantars. Sorry for getting technical on you but they are exactly the same as when I was in hospital and I’ve googled them all. Basically they are all common indicators of spinal cord damage.

I had a blood test on the day for anti-GAD antibodies and the letter explains that this was to rule out Stiff Person Syndrome. This was new one for me, I don’t have it, and I’m very pleased about that.

Next step is an EMG which is some sort of muscle test. It is quite obvious that I have muscle stiffness and spasticity and my consultant is trying to rule out everything that could possibly cause this.

So, I’m kind of in Limbo Land! I think Transverse Myelitis fits, but my consultant is wary of putting it as a direct diagnosis, so I don’t have a diagnosis. This makes me feel confused and wary. If I know what’s wrong then I know I will be getting the right treatment. Even though you can’t get a direct prognosis with TM at least I can ‘hang out’ with other TMrs and learn from their experiences.

Once again, even though this sounds silly, I feel as though I’m imagining everything, that it’s all in my head, or I’m making it up. Even I couldn’t imagine this, could I?