Living with a disease that does not make you "look" unwell on the outside.
Stiff Person Syndrome (SPS) is a very rare degenerative autoimmune disease of the nervous system. It is thought to be a one in a million condition, but many that I talk to, think that there is a lot more. The raising of awareness is paramount, so that people can be diagnosed as soon as possible. More women than men seem to be affected, and so far there remains no link between any race of people or family members.
Symptoms for many can be very intermittent, and usually affect the legs and back. Some others may also experience spasms in their arms, abdomen and neck. A very painful rigid spasm can transpire owing to being startled by any trigger, such as sudden noise (like the toaster), touch, and reactions to different emotions such as stress. Some people can cross the road one way, and then cannot cross back again as they go into a painful stiff spasm. All stories are so the same, and yet so different.
Numerous people with SPS have associated autoimmune diseases, such as Diabetes type 1 and Thyroid conditions.
SPS can leave many people feeling very alone and afraid to leave their home (in case of a spasm).Personally it took five years before a correct diagnosis was given to me. This is a common thing, as many Specialists and Doctors are not aware of the condition. I had spinal and cranial scans, but because no lesions were found, I was told to “go home”.
I think they were looking for MS I remember being told to go back to my local G.P, because nothing was found in the MRI and I can tell you now, it was the hardest walk back to the car I have ever had. Distressing does not even come close.
Many people I have spoken to have had the same horrid time of being misdiagnosed or not being taken seriously, all the while suffering great pain and confusion.
As a nurse at the time, I knew that there was something very wrong going on with me, and after many painful spasms and falling over, for no apparent reason, I had enough. Experienced not even being able to get back from the letterbox, or having to crawl around the house at times because the stiffness was so bad and having to use furniture as a help to get from one place to another. I was blessed to finally be “taken seriously,” as previously a lot of Doctors and Specialists started to make me feel as if it was all in my head! I had an anti-GAD antibody (glutamic acid decarboxylase) test done, and with that being very high and through clinical examination, I now had a name for what I was going through. The year was 2005.
I used to hide my condition from people because I felt absolutely “silly” as to why I could not move, or walk at times. How can you tell people that you are just “stuck?" I had no idea of what was wrong, so how could I tell anyone else? I still sometimes hide how bad some days are as I do not want my family and friends to worry.
I actually cried for 10 minutes after my correct diagnosis, five minutes was from such relief that I actually had a name for what I was going through, and the other five minutes was because of the sadness as to where my life journey was now going.
It should be noted that some people with SPS do not have a positive reading for anti GAD.
Electromyography (EMG) is also a tool used for diagnosing SPS.
I now have an IVIG Intragam Infusion once a month (a plasma infusion) and take diazepam, gabapentin and Thyroxin (Thyroxin for my thyroid disease). There are many other medications that people are prescribed and it is a case of finding, firstly, a specialist that knows of SPS, and secondly, trying treatments and combinations of medication that best work for the individual.
While it is a horribly painful disease, I find that with my medical plan, I can so far lead a fairly “normal” quiet life. Don’t get me wrong, there are moments, hours, days, were my old friend SPS gives me more bother than I would wish (and is always changing on me!)
I am often told "you look so well" and I laugh on the inside. That is what they do not see, what is going on, on the inside. It's not the fault of people at all, it is great to look good, it is not like Cancer. I think we shall always be told we look good, and I know a lot of people would be very sceptical. That is why awareness is so important to me.
I Still have falls, and some stacks on my bike (yes requiring stitches), but I do not let it stop me from living my life the best I can. I still get back on my bike.
Well I am sure my journey shall continue and change. I now use a walk crutch at times, and have double vision problems that require me to wear prism glasses to trick my brain into seeing one of everything. This has messed with the old SPS, but the Endocrinologists and Neurologists are at a bit of a loss as to why this came on so suddenly late last year, 2011. It May be related to Thyroid. I'm not sure. Once again, MRI unremarkable.
Well, over a year has passed (way too quickly). My eyes became worse in 2012 and my balance also became a big problem half way through the year. I now require a 4 wheel walker and felt way too young at 42 to have to resort to it, but that is the way things are progressing at the moment.
Another week in Hospital for another MRI, blood tests and to see the physiotherapist and speech pathologists. Nothing remarkable has shown up, but my speech is a lot worse. I find I am using an English, Scottish and Irish accent at times without really noticing. The speech Pathologist said it was not uncommon as I am using different muscle groups when I do this. They all noticed, and commented, that I was very unsteady, though I do feel fine with the walker.
I am now having two days a week of IVIg Intragam (plasma) 51g each day (102g). I was having IVIg one day a month of 66g
It is getting harder for me, but I try to be as independent as I can, but it IS harder. I am getting more accepting of asking for help, but I truly hate that!!!
One can get very sad at different times, as not being able to help very much with our daughters 21st and having a son who may be moving on campus for University soon two hours away from us will be hard, as I feel I cannot go to the enrolment day or see where he will be. Some places are just not very friendly to someone who relies on a walker and cannot see very well. As I type this I have one eye closed. I do use an eye patch at times.
But, as always, I will end on a positive note. I still get out once a week to volunteer at our local History Research Group. Love being able to still give something back to the community.
(This is my own story and nothing written here should be taken as medical advice)
Update March 2019
Not sure of dates, as it seems that Steve, my husband, accidentally threw out my important information, haha. Anyway, here goes: I was the founder of SPS Australia, and over the years I’ve been seen in newspapers, magazines and appeared on TV her in Australia. I’ve also been to the Royal Childrens’ Hospital for a Rare Disease Day with lots of people there, including doctors and specialists, where I gave out heaps of information regarding SPS. I have had nine years’ of IVIG, and I have had plasmapheresis but it did not work for me. I’ve also tried steroids and hydrotherapy (unfortunately did not work for me).
I have slowly gone from a walking stick to an elbow crutch to a great wheelie frame, now a wheelchair. Gosh, I have had a lot of things piled up! I have had loads of blood tests, too, just to check my GAD. Wow, I have had counts of everything from well over 2,000 down to just five; I should have been great at five, but I was just the same. I really don't think that the test was any indication of my disease (remember, we’re all so different).
I have NDIS (care and support) here in Oz. Great for getting the bathroom fitted for a wheelchair! I also have a great O.T, cleaning ladies, podiatrist, a P.T and great support if I need it. I knew I needed all the walking aids as I was falling a lot. But I still go to the theater, movies and out of the house whenever I can. Each one of us is so different - this is my experience. I take Gabapentin (800mg twice a day) and Antenex (a form of Valium) for spasms. I take 20mg in the morning and any time I have a spasm. I have a great ramp up the front of the house, also a wide door into my bedroom. My en-suite has a great sliding door that goes into the wall. Makes more space and is better for me.
Well, that’s all for now!