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

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.