HSCT for SPS

“To understand the man you have to know what was happening in the world when he was twenty.” Napoleon

Yes. I am using Napoleon as an excuse to tell my life story. But I promise, from here on, my blogs will be short and succinct!

Like all families, my family had its quirks.   My dad, a typical old-fashioned Aussie bloke who has softened with age and who I love dearly, made it quite clear to my three brothers and me that “what doesn’t kill ya makes ya stronger”.  Whining or complaining about drawing a short straw or feeling a bit off was not an option; life was something that you just got on with.My mum and I were very close and without her and her ability to listen and be there for me I probably would have grown up with “issues”.

Despite, or maybe because of, our idiosyncrasies, I had a happy upbringing. We spent most weekends in a two-bedroom fibro shack at the coast. As soon as we’d get to the coast we’d bolt to the beach and wash off the grimy stress of the city. Weekends were our reprieve and as a family we did everything together.

I was young and healthy.  I was a swimmer.  I was a surf lifesaver.  And I swam, ran, and paddled up to 14 times a week.

The only glitch in my otherwise sparkling childhood was a gammy hip I had in grade four which saw me in traction in hospital for a week and on crutches for a couple of months. The doctors were never 100% certain what the gammy hip was but thought it might be a post viral infection.  I often wonder now if that was my first encounter with autoimmune disease.

At 18, I left the safety and security of mum, dad, and home and went to university in Lismore. I was a typical first year student, burning the candle at both ends, partying most nights and pulling all-nighters to get assignments in on time.  Money was tight so I survived on potatoes, $5 all-you-can-eat pizza, and of course, copious amounts of beer.

By the end of the year, I was completely spent.  I crawled home to mum and dad and caught up on a year’s worth of fruit and vegetables while sprawled out on the couch.  I had stabbing pains throughout my body and had no energy. Mum took me to the family doctor who put it down to exhaustion.  A week later with my throat closed up and glands swollen, my doc said two words that changed the path of my life: GLANDULAR FEVER. For added cheer, the doc said it was the worst case he’d ever seen.

My dad was a big believer in going for a run to get rid of any ailment, which I might add has served him well as he fractured his spine when I was 12, was told he’d never walk again, and 28 years later is running marathons.  Attitudes like these do rub off, so despite doctor’s orders to take it easy I kept partying and ignoring fevers and swollen glands; if I drank enough alcohol I started to feel better. I quit uni, moved to the Sunshine Coast with some girlfriends, and got a job. I spent 6 months treating my body very disrespectfully indeed. I saw doctors frequently for the continual fevers, swollen glands, and sore throat but was always scared off by the diagnosis of chronic fatigue syndrome.  True to form, I continued to ignore doctor’s orders and soldiered on until I was fired from my job for continuing to work with a hideously chesty, infectious cough and constant fevers.

Not for the first or the last time in my life, my mum came to the rescue. I could barely walk. I couldn’t make a decision to save my life.  And I was pretty depressed.  Mum moved me back home and the healing began.  She’d make sure I had healthy food to eat even though I didn’t feel like eating. She’d make me walk every day, even if it was just 50 metres down the road.  And most of all, she’d sit holding my hand while I cried. She was my rock and after a year of her care I was healthy and ready to head back into the world.

My years between 21 and 26 are all a bit of a blur of hard work, hard exercise, and more partying interspersed with frequent health crashes. Unfortunately, I never learnt the art of balance.

At 26 I met and married my South African husband, Mark. Ten years ago, and within two years of marrying the man-of-my-dreams, we had two children: a boy and a girl. Soon after having my second child, my joints started swelling.  I was diagnosed with inflammatory arthritis, an autoimmune condition.  I controlled it with anti-inflammatories: a mix of non-steroidal; and when severe, prednisone.

Eight years ago, after a couple of weeks of physical yard work – work that Mark hadn’t got around to yet (typical husband!) – my back spasmed and I fell when sweeping the kitchen floor. For two hours I lay on the floor unable to move. I couldn’t reach the phone and Mark was out with the kids.  Once home, Mark managed to move me to the couch where I was stuck for the rest of the day and night – fortunately my bladder behaved and nature didn’t call! After a week of muscle relaxants, pain-killers, physios, and prednisone I could walk again. Just. Then it happened again.  My doc sent me to the Emergency Department where I was referred to our city’s most infamous neurosurgeon, who ignored my medical history including the inflammatory arthritis and diagnosed me with depression.  Try telling someone who’s not depressed that they’re depressed.  I reacted by blubbering, “I am not depressed”.  Counterproductive – to say the least!

Luckily I was also seeing a very empathetic rheumatologist who put the muscle spasms down to inflammatory arthritis on my spine (spondylarthropathy) and prescribed an immunosuppressant with prednisone during flares.  This kept me pretty stable and I lived a fairly normal life, apart from being back into the cycle of working myself to the bone and then crashing.  Fortunately, I had sympathetic employers.

Ever the dreamer, when we first met, Mark thought he’d be retired by the time he was 35, driving around Cape Town in a Porsche convertible surrounded by hot “chicks”.  The reality was, he was driving around Brisbane in a clapped-out Magna sedan, with two kids who had a few health issues of their own and his “obviously hot” but unwell wife. Looking back I often wonder how we made it through our first eight years of marriage. Dad was right all along – “what doesn’t kill ya makes ya stronger” and I firmly believe that if it weren’t for our struggles, our marriage would not be as strong as it is today.  That’s not to say that Mark was and is all angel; he is stubborn (and right) to a fault, has absolutely no domestic ability, and can be a grumpy old man if he hasn’t been near the surf in a week.  But to this day he has not waivered on his marriage vows, for better or worse, even though my health has made life extremely difficult for him and our kids.

But enough about Mark….

Three years ago I decided to go completely natural.  I came off all medication.  I went completely clean with my diet.  I was a paragon of health.  I was playing tennis two to three times a week and running 20 – 30 kms per week. I couldn’t have been healthier if I’d tried. But by April 2012 the wheels started falling off again. I started greying out on runs and would have to sit on the footpath until I felt better.  My resting heart rate sat at around 110, ridiculously high for a fit person.  I reduced my running to walking, until the same thing started happening when I was walking.  There’d be weeks when I couldn’t drive because I would have limited vision and be on the verge of passing out. By August 2012 I started to have trouble walking first thing in the morning.  My calves would be so tight that my achilles felt like they were going to snap in two. By October 2012, I had to defer the creative writing course I had started at the beginning of the year and I was no longer able to drive because of the dizziness.

It was my gastroenterologist who identified that something was very wrong and referred me to the best, the loveliest, and the most handsome endocrinologist in the land! In November 2012 he admitted me into hospital because I was having trouble breathing, my heart rate was sitting over 140bpm and little did I know that most days my blood pressure was as low as 70/40.  After bringing in a cardiologist and a neurologist the diagnosis of autoimmune dysautonomia was made; meaning my autoimmune system was attacking my autonomic nervous system (the system that controls your involuntary bodily functions) causing it to malfunction. 

My neurologist was certain that there was also a neuromuscular problem and told me to be patient; he would get to the bottom of it.  Where was that infamous neurosurgeon now? Depression: I think not!

By February 2013 I needed a cane to walk and my muscles had really stiffened. By April my neurologist said I had an autoimmune neuromuscular hyperexcitability disorder along with the dysautonomia.  He just wasn’t sure which disorder it was but was determined to keep testing my antibodies to identify it.  He also started treating me with fortnightly IVIG, which are the antibodies of thousands of blood donors. The IVIG would loosen my muscles for a week and I would spend the second week really looking forward to my infusion. It wasn’t long though before it was only loosening my muscles for a few days and then not really at all.

In June of last year, I hobbled into my neurologist appointment and my doctor was almost jumping out of his skin – he had found the antibody that was attacking my body and, boy, was he excited! At last I had a diagnosis – I had Stiff Person Syndrome (SPS), a rare autoimmune disease that is thought to affect one in a million.  Finally I felt validated.  And most importantly, I was able to tell Mark definitively that I was one in a million!

Being finally diagnosed, after all those years, was a bittersweet occasion. I was happy that I finally had a name for all my health problems and it wasn’t all “in my head”. And although there wasn’t a cure for my disease, I was also happy that I could be treated and it could be managed. The bitter enters because what I didn’t know at the time was how little is known about SPS, how treatment doesn’t work for everyone, and how serious and much more debilitating this disease would become for me.