stiff person syndrome

Stiff Person Awareness Day 2019

October 24, 2019 by Anne Sweet 5 Comments

Tomorrow is Stiff Person Awareness Day and I thought I’d try and give you some insight on what it’s like living with Stiff Person Syndrome (SPS)

First of all, it seems as though it’s different for everyone. I’ve spoken to, and met, many people with SPS but no-one has exactly the same symptoms.

Diagnosing SPS

Getting diagnosed with SPS is difficult because it’s so rare no-one really knows about it, not even doctors. I was lucky that my consultant had experience of the condition and knew what to look for.

Many people get mis-diagnosed at first, but in fact a few tests can give a positive diagnosis if your doctor has any idea of what he’s dealing with. First up, blood tests. There are certain anti bodies called GAD (Glutamic Acid Decarboxylase Autoantibodies) that attack the immune system. They are common in diabetes type 1 patients, but higher titres are the basis for a diagnosis of SPS. I do not have high GAD anti-bodies.

The next tests are the EMG and NCS. EMG or electromyography tests neuromuscular abnormalities by inserting needles into the muscles and testing them for electrical activity. The NCS or Nerve Conductive Study detects nerve damage and destruction. Positive results from these studies show the damage caused by SPS. They can also come up negative.

Another test, not often performed, is for the Glycine Receptor Anti-body which If present it gives a diagnosis of SPS with PERM (Progressive Encephalomyletis with Rigidity and Mycolonus). Which is what I have.

Other Conditons

Stiff Person Syndrome can be misdiagnosed as Parkinson’s Disease, Multiple Sclerosis, fibromyalgia or a pyschomatic illness. Unless a doctor knows anything about the condition it can take on average 6 years to get a proper diagnosis.

Just to make things more complicated, there are five types of SPS.

classic stiff person syndrome
focal stiff person syndrome
jerking stiff person syndrome
PERM
Paroneaplastic Stiff person syndrome (cancer)

Stiff Person Syndrome affects twice as many women as men, hence the name being changed from Stiff Man Syndrome.

How SPS Affects Me

I believe I had symptoms for quite a while before my diagnosis but they were not really a big issue. I’d often feel pain when startled but I though that was normal. I’d get pins and needles a lot, but I also thought that was normal. I suffered from migraines for years and often had Trigeminal Neuralgia which can (kind of) be described as a migraine in your face. These are all signs of a neurlogical impairment but I was not aware.

Then I had my first SPS attack. My body went stiff and completely numb one night while in bed. It was very frightening and I couldn’t do anything. I couldn’t even speak or call for help. I did recover however, and I spoke to my GP who believed I’d had a TIA or mini Stroke and requested a brain scan. Before I had that scan I had another attack that was so bad it left me paralysed for days and I was hospitalised.

I still have these attacks quite regularly now, but my medication helps to keep them from lasting too long. I Still suffer from pins and needles and TN and pain from startles. I can walk for only short periods and then the pain becomes too much or I just stiffen and am unable to move. That’s why I use a wheelchair to get around. I am prone to falling, I feel safer walking in my home because I know there is always something to grab a hold of. I would not be able to walk in an open space.

Stiff Person Awareness

If you have been reading my blog for a while then you’ll probably know that most of this I’ve said before. However, as it is Stiff Person Awareness day I feel that I need to use my platform, my soapbox, my blog to let people know about this incredibly rare and pretty awful condition. There was a time when people didn’t know much about cancer but think about how much researach has been done over the years. Think how many lives have been saved because people talked about it and made others more aware of what the symptoms were like.

It will be a while before even Doctors fully understand and know how to treat Stiff Person Syndrome. Many doctors don’t even believe it exists. So it’s important that people like me raise awareness whenever we can. SPS can be fatal, it can also be treated. But it’s also very rare and often unheard of.

If you would like to know more about Stiff Person Syndrome you can visit the UK and Ireland Website for information.

A Zebra...when you hear hoof beats think zebras, not horses. Stiff Person Awareness Day

Previous SPS Posts

and many, many more because I’ve harped on a lot about it for the last 4 years 😉

BLOGTOBER 2019 POSTS

Blotgober Day 1 – All You Need is Love
Blogtober Day 2 – Coppafeel – Breast Cancer Awareness.
Blogtober Day 3 – Out of Spoons (a poem)
Blogtober Day 4 – Smile
Blogtober Day 5 – Autumn Fashion
Blogtober Day 6 -Baking
Blogtober Day 7 – missed
Blogtober Day 8 – The School Run
Blogtober Day 9 – Avon Give Away
Blogtober Day 10 – What I’m watching (or have watched) Lately
Blogtober Day 11 – Blogtober
Blogtober Day 12 – 6 Reflections on Autumn
Blogtober Day 13 – Impractical Jokers
Blogotber Day 14 – Weekly Meal Planning
Blogtober Day 15 – Everybody Hurts Sometimes
Blogtober Day 16 –The Horrible Craft Book
Blogtober Day 17 – missed
Blogtober Day 18 – Word of the Week – Worry
Blogtober Day 19 – Christmas Crochet Along
Blogtober Day 20 – My Sunday Photo – About Me
Blogtober Day 21 – Momentous Events in the Life of a Cactus – review
Blogtober Day 22 – missed
Blogtober Day 23 – Explaining the Different Types of Eating Disorders
Blogtober Day 24 – Stiff Person Awareness Day 2019

I Told You I was Ill

September 17, 2019 by Anne Sweet 10 Comments

a photograph of an old church with stones in the cemetery

‘I told you I was ill’ is the famous epitath of Spike Milligan who died at the age of 83 in February 2002.

Listening to some women talk in the hospital yesterday brought it home to me how this epitath could be the serious comment of so many under healthcare at the moment.

It’s not unusual for me to hear tales of people, all over the world, who have been ill for many years before getting a diagnosis or treatment. So many get told that the tests are not showing anything and begin to believe their symptoms are all in their head.

Hypochondriasis or hypochondria is a condition in which a person is excessively and unduly worried about having a serious illness.

But I really Am Ill.

I always considered that my diagnosis came quite quickly. I went into hospital with severe pins and needles and eventually paralysis. Then I had a full MRI and was sent home with a diagnosis of Transverse Myelitis. A condition where your own body attacks the spinal cord. I was told I would recover in six to eight weeks. Eight months later when I hadn’t recovered more tests were done and my diagnosis was changed to Stiff Person Syndrome with PERM. I had the results from the tests in the post in October 2016 and they were negative. But when I saw my consultant the following January he said that other anti-bodies had been found, glycine receptor anti-bodies. And so my diagnosis was given.

But was My Diagnosis Really that Quick?

I am not an hypochondriac and the only time I ever really complained about anything medical was during my pregnancies. I was always terrified for my babies, not for me. It was worse with my older pregnancies, especially after my miscarriage. I imagined everything that could go wrong would go wrong. I ‘did’ over react sometimes.

However, with hindsight, I know that I was showing symptoms of my condition at least five years before my diagnosis. Pins and needles that took forever to ease off, weekness in muscles, pain, cramps etc. The first time I visited the GP I had a pain in my side which kept re-occuring. I had ultrasound scans but nothing was found. I even went to A&E once the pain was so bad, but they gave me a shot of morphine which made me feel better (And happier/higher!) and sent me home. The pain came back as soon as the morphine wore off, but I’d felt humiliated at the hospital, like the pain wasn’t taken seriously.

Then Things Got Worse

One night, 3 months before my hospitalisation. I had my first SPS attack. At the time I had no idea what was happening. While I was in bed and my body was paralysed all down the left side. I couldn’t move or speak. There was no way I could call to my family for help. I was alone and terrified, not knowing what was going on. I went to the GP and told her what had happened and she scolded me for not calling an ambulance. But how could I, I couldn’t even call my son in the next bedroom.

My GP had believed that I’d had a T.I.A or mini stroke and requested a CT scan at the hospital. I never had that scan, the next time I was in hospital was when I had my major attack and I had a full MRI instead. (or my 100 minutes of hell as I refer to it.) I do not have any issues with my brain.

My medication prevents me from having such severe attacks now, but if I’m honest, I’ve felt just as bad as I did that day I was admitted. There’s no point in seeking help though because it’s just my condition and I have to deal with it.

Why Does it Take so Long?

There are many reasons why it takes so long for someone to get a diagnosis for something not common or apparant. There are tests for things like meningitis, sepsis, cancer and many other common conditions. But, they are only carried out if really necessary, for cost and health reasons. If your condition is rare you might never be offered any tests at all.

A hospital will have to be quite certain that it is necessary for you to have an xray, CT scan or MRI before carrying one out, and sometimes these are the only ways they can see what’s wrong.

Most of the people on the day ward where I go have Multiple Sclerosis. You would think that this is quite a common condition and that it would be diagnosed quite easily. The truth is that symptoms can creep up slowly and not give the doctors enough reason to carry out the necessary tests to find out it is MS and sufferers can have the condition for many years before finding out.

What If You Are Ill?

Bascially, if your heartbeat is okay, your blood pressure within the limits and your temperature is fine then you are not ill. That’s what I have learnt. It’s the basic SATS and they do them first, if you pass the tests you are okay and wait for someone to see if there is anything else wrong. And waiting can mean waiting for a very long time.

I’ve heard so many patients talk about being made to feel like hyperchondriacs or even that their ailments are all psychosomatic. (In their heads!) It’s disheartening to hear of how people have suffered because no doctor has taken them seriously.

A&E departments are too busy and the Doctors there are rushed. Every one of my experiences there has been quite negative. I was admitted once, and almost admitted a second time with pneumonia. The choice I was given was that I could have had the anti-biotics adminsitered by IV or take the pills home. I decided to go home. The other times I’ve been dismissed without help because it’s my SPS causing the problem and they can’t do anything for me.

I see a cardiologist regularly, but he can’t find anything actually wrong with my heart. It’s just my SPS causing it to spasm. One day it may cause it to stop, but there is nothing they can do until then. I don’t have a ‘normal’ heart condition.

I see my neurologist who asks how I’m doing and I say ‘crap.’ And he says ‘ok, see you next time.’

The Future

The future is bleak. They have promised to pump more money into the NHS but it won’t help unless they get a lot more doctors and do a lot more research. We are so lucky to have such a brilliant resource, and despite my complaining, I have nothing but respect for anyone who works for the NHS. But, it’s stretched and needs so much more to make it work.

My Father-in-law was sent home with a really bad chest because they decided he needed a CT scan rather than an Xray which the GP had sent him for. They couldn’t arrange the CT scan the same day so they sent him home. And he died.

People slip through the nets all the time. You have to be really sick to be taken seriously. There are so many people who feel ill, that are sent away from hospital, and don’t go back because they feel like they have wasted time. Me included. Maybe if I’d pressed on about feeling ill for all those years then I’d still be walking somehow now? Maybe I could have had the treatment before my spine was damaged?

It’s too late for me, but I wanted to write this because if there is someone out there reading who feels that they are not being taken seriously. Please keep trying. I hope someone will listen to you. Even if it’s ‘all in your head’ you can get help, you deserve help. Help is there, but sometimes you have to fight for it.

blue background with a pink flower and the words, to the one soul reading this, I know you're tired, I know you're fed up, you're so close to breaking. But there's strength within you even when you feel weak. Keep fighting

At Least You Don’t Have Cancer

June 22, 2019 by Anne Sweet 13 Comments

photo of a hospital drip holder with medication bag possibly cancer treatment

I’ve had a few people say to me “at least you don’t have cancer” including my husband.

I’m so glad I don’t have cancer, it’s an evil disease that doesn’t care who it attacks, young or old. Nearly everyone knows someone with cancer. Getting a diagnosis feels like being given a death sentence. Even those that survive never really recover.

The treatment for cancer is brutal with many side effects. Sometimes it works, sometimes it doesn’t. It attacks different parts of the bodies so all cancers are different.

Cancer has taken far too many people too soon, destroying families. Survivors live with the knowledge that it can strike again at any time. Survivors also often suffer with Post Traumatic Stress Syndrome.

Cancer took my Mum, two of my sister-in-laws and my nephew. Cancer wrecked the first few years of my friend’s little boy’s life. I have friends with cancer. I hate cancer, I really do.

I’m glad I don’t have cancer.

At Least You Don’t Have Stiff Person Syndrome Plus PERM

I’ve never said to anyone ‘at least you don’t have Stiff Person Syndrome plus PERM.’ Probably because the answer would be like ‘huh?’

When you say cancer, everybody knows what you mean. They know that it’s awful and it can kill, and often does. They know how dreadful the treatments are. Most people know someone with cancer, it’s so common.

Stiff Person Syndrome plus PERM (SPS+) is incredibly rare. Less than one million people in the entire world have it. It can take around seven years to diagnose and most Doctors have never heard of it. It can also be a sign of cancer.

SPS+is so rare no-one knows how to treat it, not even the specialists. Drugs have been used and some found useful. Most drugs are not prescribed because the condition is so rare they are not registered for it.

The drugs I take for my SPS+ are classified so my partner has to go to a regular chemist to pick them up where they know him. If he has to go somewhere else he needs to show identification.

My drugs have many side effects that can make me extremely tired, sick and dizzy. They can also affect my heart and memory.

photo of my hand with a cannula inserted.

I go to hospital for treatment every month. Not in stages, but every month for two years now and probably for as long as I’m alive. I don’t get tests to see if it’s worked because it can’t cure me, just help me from getting worse, and maybe make life a little easier for me. The treatment can cause headaches, flushing, fever, chills, fatigue, nausea, diarrhea, blood pressure changes and tachycardia. It can also cause acute renal failure and thromboembolic events as well as aseptic meningitis. (which I’ve already had.)

I have pain all the time, I can’t walk without aid, and then only for very short periods. I get vertigo and have absence seizures. Most of the time I just want to sleep. I have spasms that can affect any part of my body and that can be so severe they break bones. (So far, just ribs for me.) The spasms can also affect internal organs, including my heart and lungs. Each severe spasm feels like I’m dying.

There is no cure, there is no proven treatment. Most people have never heard of it. I’m in pain constantly, I could die at any time and my medication has just as many side affects as the ailments it’s supposed to be treating.

Yes, I’m lucky I don’t have cancer.

And, you are so lucky you don’t have SPS+

Show Your Rare – Make Them Listen

February 28, 2019 by Anne Sweet 4 Comments

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 like RareDisease.org 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.

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!

10 Facts about Stiff Person Syndrome

Rare Disease Day 2018

The Day My Diagnosis Changed (Stiff Person Syndrome)

When it’s Not All Black and White (Elhers Danlos Syndrome)

My Angel (Star’s first Halo)

An Update on Star (Star’s Surgery)

What it is like Living with a Chronic Illness

January 16, 2019 by Anne Sweet 20 Comments

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

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 Stiff Person Syndrome plus PERM and 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.