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Today is Rare Disease Day. I’ve written lots on my rare condition and also Star’s condition, but today I wanted to write about getting help when you are rare.

Star

Way back in 2013, Star woke up one day with a wonky neck. I took her to the GP who said to take her to A&E. We were told she had torticollis and that it would get better itself. It didn’t and we were back in A&E three more times before they scanned her and discovered a rotary subluxation of a disc in her neck. She was admitted.

A week later she was sent home again after having nothing but pain relief and muscle relaxants. She was given physio therapy but the therapist stopped treating her as she was sure she was getting worse not better.

I’ll cut a long story short, over the next eighteen months I had to fight to get the treatment my daughter needed to fix her neck. Each step was slow and, for her, painful. It seemed that none of her doctors where listening to me. She was finally diagnosed with a rare condition called Elhers Danlos Syndrome.

Her condition means that her ligaments are lax and she is prone to subluxations. Her bones can slip out of place and back again, causing a lasting pain. She has also dislocated her ankle a couple of times and dislocated her wrist. It was also, most likely, the cause of the subluxation in her neck. Which is why none of the treatments worked until she was permanently fixed with plates and screws.

She has many more issues and even now, with a diagnosis, we still have to keep on at doctors until they listen. Her condition is rare and it makes it more difficult for doctors to treat her with traditional methods.

Me

I had problems for a few years before I was really sick, but no doctor could work out what was wrong with me. My mental health was questioned on more than one occasion.

Then I became so sick I was paralysed and admitted to hospital. Again, no doctor really knew what was wrong with me. I was in a teaching hospital and each day students came in to question and examine me. They were clueless too. I did get a diagnosis of Transverse Myelitis, but I knew that my doctor was not absolutely sure of that.

A year later, I had learned to walk again (in a fashion..I know how to put one foot in front of the other, but balance and gait are something I’ve never mastered.) After more tests I was given the diagnosis of Stiff Person Syndrome. Again, a diagnosis does not mean that treatment is available, or that doctors understand my condition.

Each time I go to hospital it’s always the same, they don’t know how to treat me. So long as my blood pressure, temperature and heart rate are okay, they send me home and tell me it’s just part of my condition. I tend to not bother going to hospital now if I feel really ill, what’s the point?

Make Them Listen

Days like Rare Disease Day, and Charities likeTramadol Order Online Mexico help raise awareness. Without this then future generations will also go on not knowing anything about these rare diseases.

Why?

Building awareness of rare diseases is so important because 1 in 20 people will live with a rare disease at some point in their life. Despite this, there is no cure for the majority of rare diseases and many go undiagnosed. Rare Disease Day improves knowledge amongst the general public of rare diseases while encouraging researchers and decision makers to address the needs of those living with rare diseases.

Rare Disease Day


Disease or Condition?

  • A disease is a pathophysiological response to internal or external factors.
  • A disorder is a disruption to regular bodily structure and function.
  • A syndrome is a collection of signs and symptoms associated with a specific health-related cause.
  • A condition is an abnormal state of health that interferes with normal or regular feelings of wellbeing.

As you can see from the chart above, even though you can give a different description to disease, disorder, syndrome and condition you can also see that they are all similar. Each one causes the patients body to react in a way that a normal healthy person doesn’t.

Both my daughter and I have syndromes, but we also have an abnormal state of health (condition,) a disruption to regular bodily structure and function (disorder) and our symptoms where caused by a response to internal or external factors (disease.)

Never Give Up

If I leave you with one thing it has to be never give up. There are so many rare diseases out there and the doctors really don’t know about all of them. There is a saying amongst the medical profession,

If you hear hoofbeats look for horses not zebras

This means that doctors are looking for the obvious not the rare.

This is why many people with a rare disease/condition/syndrome/disorder call themselves medical zebras.

Awareness is needed so that the Doctors will recognise those zebras!

zebra

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I can’t speak for everyone because we are all different. But living with a chronic illness is often misunderstood.

Imagine that the next time you get one of those horrid colds that knock you off your feet, disturb your sleep and make you feel like crap for a few days.

Then you get better and go back to normal, glad that it’s over, you survived intact.

Now imagine you don’t get better and it just carries on like that for weeks on end. Or maybe it gets better for a while but you know it will be back again in a week or two. That’s what living with a chronic illness is like.

The Spoon Theory

six silver spoons

A lot of people refer to the Spoon theory. When you are not well you can imagine a day where you wake up with a number of spoons. Then after every activity you take away a spoon until there are none left. Sometimes they can last all day and you may even have an extra one for the next day. But you can also have days where the spoons get spent very quickly and you are left unable to do anything else for the rest of the day. You can even overdo things one day, leaving you with fewer spoons for the next day.

A lot of chronically ill people refer to themselves as spoonies, I am a spoonie.

My Story

Three years ago I was taken ill quite suddenly. I don’t know what caused it but I’ve learnt since that shocks can trigger your body into attacking itself. And I’d had a shock when my Father-in-Law had suddenly dropped dead in front of me with a heart attack,while I was taking him for a hospital appointment.

Two days later I was back in the same hospital myself, virtually paralysed. Totally numb. I was originally diagnosed with Transverse Myelitis and told I would recover within a couple of months. A year later I was diagnosed with Best Tramadol Onlineand told that recovery was unlikely.

Things I have Learned Since I Have Had a Chronic Illness

Life with a chronic illness is hard, harder than you can imagine.

Life is also difficult for loved ones, they have to watch you suffer and see someone they depended on become someone they have to look after instead.

It’s difficult to carry on with a normal lifestyle, even if you are well enough to continue working you will need to take lots of time off sick.

It’s hard being a Mum, especially when your child needs you and you can’t be there for them.

You’re mental health deteriorates, you may start out feeling positive that you can beat the illness, but as time goes by you feel like it’s just not worth living any more.

People don’t like to be around sick people.

You find that people just don’t understand how you can be ill so often.

People stop asking how you are.

You stop being invited to events because people just assume you won’t be well enough to go.

It’s difficult to plan for anything because you don’t know if you will be well enough.

A lot of partners cannot cope with life with a chronically ill person and decide to leave them.

Staying Positive

It’s amazing what a difference having a positive attitude can have. I am not always positive, but when I pull myself out of my self-pity and hold my head up I feel so much better.

Life is not always easy, not for anyone whether you have a chronic illness or not. But, it’s up to you how you approach life, how you deal with it, that makes things better. I may not find any relief from my pain, but it certainly makes me feel better when I can laugh and have fun with friends and family.

I’ve just had an awful weekend, I’m not sure if it was side effects from my infusions, or related to something else but I really was ill. I could barely do anything but watch television. My family just left me to it. But there is only so much I can take, I will push myself to do things, not give in to the pain, probably even make myself feel worse in the end. But, in my mind I want to be the winner, not the giver upper!

There has to be a balance though. Sometimes when you are rock bottom it’s okay to admit it and give in, so long as you are willing to fight for it when you are ready. I gave in, I watched 3 hours of Friends and 4 hours of Doctor Who over the weekend. I’d had enough by then, enough lying around and giving in. But I’d also allowed myself to wallow and rest. It was time to fight.

One day I know the fight will be gone, but until then I’m going to polish my spoons and keep on keeping on.

courage is not having the strength to go on, i'ts going on when you don't have the strength

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I have Stiff Person Syndrome, I am one in a million

Stiff Person Syndrome Awareness Ribbon

Today’s Blogtober prompt is 10 Fact About Yourself. I’m turning this around a little and using it as a little awareness for my condition. In just five days times it will be our Awareness Day for Stiff Person Syndrome so this is quite timely.

I have this stupid Stiff Person Syndrome which is a condition which does exactly what it says, it turns it’s victims stiff. But it’s an extremely rare condition, believed to be one in a million sufferers world wide, and each person has different symptoms and reacts to different treatments. No doctor really knows what to do. And whenever I end up in hospital and say I have Stiff Person Syndrome I just get blank looks like I’m making it up. 

Let’s get on with some facts about Stiff Person Syndrome….

  1. Stiff-Person syndrome is characterised by fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as noise, touch, and emotional distress, which can set off muscle spasms.
  2. People with Stiff-Person syndrome can be too disabled to walk or move, or they are afraid to leave the house because street noises, such as the sound of a horn, can trigger spasms and falls.
  3. Stiff Person Syndrome is often misdiagnosed as Parkinson’s disease, multiple sclerosis, fibromyalgia, psychosomatic illness, or anxiety and phobia
  4. There are some rare forms of Stiff Person Syndrome that are due to Paraneoplastic Syndrome. The person has a cancer and might not know it yet. The immune system Ramps up to fight the cancer and goes haywire attacking other organ. In SPS case it’s the central nervous system: brain and spinal cord.
  5. Most, but not all, of patients with Stiff Person Syndrome have elevated GAD65 levels in the blood indicates that the body is creating an antibody that attacks GAD, impairing the body’s ability to make GABA.
  6. Some people with Stiff person syndrome have the glycine receptor anti-body which is generally an indication of the PERM type of the condition.
  7. Stiff Person Syndrome can cause swallowing problems to the point of medical crisis. The patient then develops severe anticipatory anxiety about swallowing and starts to avoid eating.
  8. Other disorders that can cause symptoms similar to Stiff Person Syndrome include hyperekplexia, multiple sclerosis, transverse myelitis, occult vascular malformations, neuromyotonia (Isaac’s syndrome), Schwartz-Jampel syndrome, muscular dystrophies, and metabolic myopathies.
  9. Stiff Person Syndrome was originally named Moersch-Woltman Syndrome after the doctors that discovered it.
  10. There are 5 types of Stiff Person Syndrome:

-classic stiff person syndrome
-focal stiff person syndrome
-jerking stiff person syndrome
-progressive encephalomyelitis with rigidity and myoclonus (PERM)
-paraneoplastic-related stiff person syndrome


Stiff Person Syndrome and Me

I first fell ill on 1st January 2016, but I realise now that I’d been showing symptoms for about a year previously. When I did get ill I was admitted to hospital unable to move. Intravenous steroids over a 5 day course got things working again and then I had physio to help me learn to walk before returning home 13 days later.

I was originally diagnosed with Transverse Myelitis after an MRI and lumbar puncture had ruled out MS. A year later, further testing of my muscles, nerves and blood showed that although I was GAD negative (see 5 above) I did have the Glycine Receptor anti body and was diagnosed with Stiff Person Syndrome plus PERM (6)

Next week I’ll be promoting the new Stiff Person Syndrome UK website and Youtube channel. I’ve been preparing lots of things to share on our Twitter account and I’ve made a video from clips of sufferers all over the world. The more people that know about our condition the easier it will be for future diagnosis and treatments to be made, so awareness is extremely important. 

Thank you for reading, and if you ever want to know more about Stiff Person Syndrome then please ask. 

A zebra with text "The zebra stripe ribbon for stiff person syndrome refers to training in medical school where they teach future doctors that "when you hear hoofbeats, think of horses not zebras!"
Please watch out for my zebra pictures on Twitter next week 

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a purple star with the word, new, in the middle

Last week my word of the week was School as we had found a new school for the Little Man. We went out on Saturday to buy his new uniform and although we got everything we need the day didn’t end well. More about that in a little while. First I want to tell you that the Little Man absolutely loves his new school. He’s made lots of friends already and thinks his teacher is great. In one week I’ve found him keen to read his book just so I can give him his comment in his reading log (he’s never been keen before) and he’s been singing songs to me that he’s learnt. 

He is happy and excited to go to school in the morning and comes home bubbling. I have missed him like crazy but it was certainly the right decision to send him back to school, he is so much brighter.

The Crash

We also have a brand new, I mean, so new it’s only just over a month old, car! It’s a top of the range Mazda with leather seats and so many features, including many safety features. Graham is in love already. BUT, it’s not ours really, it’s a courtesy car while our poor Skoda, Bernard, is being repaired. 

After uniform shopping on Saturday we were involved in a Cheap Tramadol Fedex Overnight. While waiting to turn right another car ploughed into the back of us at speed. Thankfully the girls were safe at home with their big sister so there were only three of us in the car.

Graham was fine at the time but has since become stiff and sore from whiplash and is suffering from recurring headaches. The Little Man was hysterical, but it was more fright than anything. He hit is head off my seat, despite being strapped in. He has bruising on both his legs and also has a stiff neck and shoulders. 

I don’t even remember what happened but I remembered seeing blood from my foot and my shoe was missing. My back was really hurting and I’d gone stiff in spasm from my condition. I can only surmise that the shock of the accident caused my startle reflex to set in and I somehow managed to get pretty bashed. I was taken to Accident and Emergency by ambulance, but my experience at the hospital was not good. The Dr had no idea how to treat me because my stiffness meant he couldn’t make his usual examinations, after poking my back and sending me into a massive spasm again. It’s difficult to examine someone for spinal injuries when they already have a knackered spine. I can’t blame him for not knowing what to do, nobody ever knows how to deal with me.

I left hospital unable to weight bear on my left side and my back has been hurting like crazy. But, it is slowly getting better so I just need to heal. If it was getting worse I would be worried. About three days after the accident I also suffered from the stiff neck and shoulder pain. My ankle is also swollen, bruised and grazed. But the main thing is, we survived. 

New Plan of Treatment

On Tuesday I was back at the hospital but this time for a scheduled appointment with my consultant. We first discussed the IVIG which I am feeling benefits from now that I’ve been having it for a year. Changing it to every month, rather than every three months, has made a big difference. 

Then we discussed all the new issues I’d been having and he told me that they are all side affects from my medication. I’ve been taking this medication for three years now without side affects, but now that the IVIG is in my system there seems to be a battle going on with the IVIG and my medication. So, the plan is to reduce the medication and adjust the IVIG so that I get the best benefits without the side affects. 

It sounds good to me. I’m quite happy to be pumping less drugs into my body, especially if it gets rid of the side effects.

Other issues I’ve been having can be put down to me lacking in B12 and folate. My medication can stop my body from absorbing these from my food so now I am taking supplements for four months to help. 

I am actually beginning to feel more positive. I know there are other drugs that can be used to help my condition, but as it’s so rare it’s hit and miss as to whether they work. So although, although I’d give anything to take something to make me better, the thought of taking even more drugs was making me feel anxious. I’m so hoping this works out, my consultant seems quite confident it will. 

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