To hell and back, my journey of discovery


David has had back problems for over forty years, and in 2012 he was diagnosed with suspected Stiff-Person Syndrome (SPS), a very rare condition (1 in 1,000,000 people). 
I have lived with back problems since 1973. Things got worse for me in 1986 when I was thrown off an inner tube while white water rafting. I hurt my spine and my legs were paralysed for about 20 minutes. By the grace of God I managed to get down the rest of the river. I didn’t seek treatment at the time but a year later in Scotland, I stretched in bed unbearable pain travelled up my spine. I remember a nurse walking straight passed me as I lay in agony on the floor at the hospital, they were useless. For 6 weeks I was unable to work, I finally got back on my feet thanks to a brilliant Sports Medicine Chiropractor from Dundee. 
My family and I moved to Australia in 1987. A year after that I had a motor vehicle accident that exacerbated my back problem. I eventually needed spinal manipulation and was fitted with an upper body brace. Since then I have been in and out of the health system and have had multiple X-rays, CT Scans, Discograms, Bone Scans, MRI’s, blood tests, and psych tests. 
There were a couple of good experiences during this time, including being in Royal Prince Alfred’s Pain Management Clinic in 1996. It was an excellent program and was very successful. It covered all the different aspects of back pain, the program and the clinicians were just wonderful. A year later I had a Bilateral Facet Block [injections into the back, to ease pain]; this didn’t work, in fact it was a total waste of time. 
Things got so bad that by 1997 I was spending a lot of time lying on the floor, as this was one of the few ways I could relieve the pain in my back. Two years later I was diagnosed with severe disc degeneration. I was fitted with a Poly Spinal Jacket, made to my exact measurement by being put in a plaster cast. It was a very scary experience. From this period forward my mobility went downhill. I was unable to lift my legs or climb ladders, which I needed to do for my job. This meant I was unable to work and in 2000 I was placed on a Disability Support Pension. The Centrelink Doctor was astounded I had been able to work for as long as I had given the condition of my back. 
I believe that my journey with Stiff-Person Syndrome (SPS) began around 1997. I was then aged 50 and it manifested itself by my lack of ability to move any part of my body apart from my head when lying on the floor to relieve back pain, also while driving my car both breaking or accelerating I would often lose the ability to move my legs without lifting them with my hands. This got progressively worse through time, I knew something was wrong. It was very alarming. I mentioned this to my excellent physiotherapist, she then arranged for me to see a specialist. This proved to be another waste of time! 
During this time I was found to be severely B12 deficient and was suffering from Subacute Combined Degeneration of the Spine. A myriad of tests was needed to diagnose this. This stated a monthly regime of intra muscular injections. Things were good for about 3 months and then I began to get stiff muscles, cramps and the loss of movements. My Neurologist increased the injections to fortnightly, the injections weren’t making any difference but the Neurologist just wouldn’t listen to my concerns. He had diagnosed my condition. End of story. We were not impressed. 
In 2007 we decided to ask for a second opinion and went to a Neurologist recommended by my GP. I underwent further tests MRI, SSEP (evoked potentials) Nerve conduction tests, EMG, and specialised blood tests. They all came back normal. So, of course, what does the good doctor say? “It’s all in your head.” My own GP and the people who saw me at Rehab did not agree and with their support I had further tests. 
2008 I was helped to take control my situation. Through Paraquad and Camden Hospital I received a powered wheelchair complete with captain’s chair, tilt mechanism and chin control. The chair was very large and I nicknamed it THE BEAST! It felt so good to have regained my independence. 
About late 2009 I was beginning to have upper body seizure episodes that were sometimes quite violent. I could have up to 8 a day, of different levels of strength and duration. My legs also would get incredibly tight and very painful during the latter part of the day. My condition began to improve in regards to my arms and hands but as soon as I did any exercise, especially in the gym or walking, my legs become very heavy and painful. This resulted in paralysis or my legs just collapsing below me. I was having physio every 2 weeks at my local hospital this was helpful but it stopped in late 2012 when I turned 65 as I no longer met the criteria for funding. 
I then started having very severe upper body seizures in 2011. During the seizures my body was propelled backwards at speed and anything I was carrying would go flying; you should see the ceiling in my lounge where the TV controller has hit it! At their worst these seizures happened up to 8 times a day. With prompting from my Lung Specialist we decided to search for a new Neurologist who specialised in movement disorders. I searched the internet and found a Neurologist who was on the Periodic Paralysis International Medical Advisory Council. I sent her an email and overtime she responded to it, I have been seeing her ever since. 
In December 2012 my real journey of discovery commenced. My Neurologist thought I had a variation of Stiff-Person Syndrome and at least two other neurological deficits. There were more tests, including further EMG tests that required needles in my hand, thigh, eyelid and back, as well as full spine and brain MRI. The EMG and blood tests were unremarkable and I was started on a new drug to try and control the seizures. About 3 months later I then began having very severe leg spasms whole leg and feet twisting violently inward episode pulling the muscles very painfully all the way to my hip. My condition continued to get worse to the point where my legs hands arms and feet would invert to the point of agony as soon as they were unsupported. 
Then in late June I presented to my local hospital in terrible agony. I had the presence of mind to ask them to contact my Neurologist, this they did and she arranged for me to be transferred to one of the top hospitals in Australia, under the Professor of Neurology. Then I was put through so many more tests, Ultrasounds, CT Scans and further needle nerve tests. These tests identified that I had neuromyotonia. Every time I tried to walk my legs collapsed below me, I had full body paralysis while lying in bed, which I found very frightening, as well as upper body seizures and throwing things everywhere eventually through medication and my own ability to better control the spasms things started to improve. During this time I was in a very deep depression, I was shell shocked and did not know what was going on. 
During this time the ‘geniuses’ at the hospital would still not give me a definitive diagnosis. I lay between Stiff-Person Syndrome, Isaacs’ Syndrome or a syndrome called after me! Stiff-Person Syndrome being the most likely I was transferred back to my local hospital after 3 weeks and began extensive and exhaustive rehabilitation. During the next 5 weeks I had to learn to walk again, something we all take for granted, this was incredibly hard as I had to retrain my brain. I also had access to a psychologist while in Rehab, this along with the visits from the pastoral care worker, who actually was a friend from my Church, brought me out of my deep depression. During these sessions I really opened up and laid all things bare. I was then allowed to return home but was still having to use my walker or wheelchair. I also needed care services to come in to shower me and so forth. This was tough for me. I am a very independent person and stubborn as a mule! 
Just before I was hospitalised we took delivery of a new manual wheelchair. This was a great improvement on the previous manual chair, it is much lighter and easier for my wife to handle. It also fits nicely onto our new wheelchair rack on the rear of the car.
Private Physiotherapy has helped me immensely to get fitter and stronger; it took me 6 months to be able to walk confidently without any aid and to walk up stairs. I am not allowed to walk outside for fear of seizures or falling, and I still must have a carer with me at all times, my beloved wife usually fulfils that demanding role.
The seizures [associated with SPS] and my stiff legs are a constant reminder that I have to take it easy I have to stay safe and not put myself at risk. When I’m outside I have to be in my wheelchair at all times. A timely warning of this happened recently. I was sitting in my wheelchair talking to some friends at a health forum when I was thrust backwards this overbalanced my wheelchair, my chair tipped backwards I ended up lying on the floor looking up at the ceiling, there I lay for some time before I was able to move or get up, luckily I was not injured it was very frightening, for all of us. 
Despite all of this my disabilities do not define me and have in many ways been a blessing. It has allowed me to be a very significant part of my grand children’s lives, to volunteer in many capacities, and to advocate for others with disabilities and their carer’s who are, so often, the unseen and unsung heroes of our society. I have a strong faith and that and the love and care of my wife is what keeps me going in our daily struggles.

Thanks to David & Health Consumers NSW for sharing this story.

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