Spinal Muscular Atrophy Type 4 – I’ve never heard of it!
In 2009 I was successfully losing weight after having a gastric band put in, almost 20kg lost and 3 days a week at the gym, I was on top of the world.
2010 was a very different story. I turned 35 in February and started a TAFE course. All was going well until I woke one morning with the worst headache. This was the year I first saw a neurologist.
From 2010 to 2012 my mobility started to deteriorate, chronic fatigue set in as well as Fibromyalgia and all the while we were blaming tick bites for it. Easter 2012 I started to get foot drop in my right foot, I could lift my leg to take a step but I had no power in my leg to push off to keep walking. I bought myself a pair of elbow crutches and used the right one to maintain momentum to walk.
This didn’t last long, once I couldn’t ‘kid’ the leg, I placed the crutch behind the knee and lifted the leg along. It took just 10 weeks for my right leg to become useless. My left leg then started to follow the same path, I knew I needed a wheelchair, and fast!
A second hand chair got me out of trouble for a while. I could use my ankles and toes to help direct myself as once I was sitting they had and still have a good degree of function.
The years passed, many specialists appointments, tests, scans and a muscle biopsy, which for the first time provided some information. The result of the biopsy was ‘Denervation Atrophy’. The third neurologist I saw dismissed every test and the biopsy and told me “you need to go to rehab, how you are using your legs is a habit!”
In 2015 I returned to my first neurologist, my GP was great, leaving no stone unturned to try and figure out why my body was being hard to get along with. My neurologist said to me, “you have muscles missing in the arches of your feet”. I thought, how is this possible? I can push my legs as much as I can, use it or lose it, right?
We re-ran tests and compared them to previous ones. My neurologist told me he was concerned I may have Motor Neurone disease. He agreed with me when I said, “you and I both know that I’ve read enough to know I should be much worse than this if it’s MND”. He expressed he thought it may be a slowly progressive form of MND but needed to do some research before coming to his conclusion. Something I had heard plenty of times before so I left feeling not all that different from the years of appointments I’d already been to.
Upon my return my neurologist told me he believes my condition is Spinal Muscular Atrophy type four. I sat bog eyed looking at him, he knew I was very unsure of what this meant.
He explained to me it’s rather rare and in his entire career as a Neurology Professor he had never seen a case and I was his first diagnosis. For an 83 year old Professor with a commendable career to have never diagnosed someone with this baffled me. I was hoping the answer would be something treatable and common but it wasn’t!
During 2016 I started to notice I had lost a lot of strength in being able to push myself on anything but flat ground. I had lost quite a bit of upper body strength. I knew the strength I had I needed to prioritise. I needed a motorised wheelchair and I’d put off the inevitable for too long. My children were constantly helping me in my chair, conquer hills, gutters, assembling it out of the car etc.
The world of disability services and all that goes with it is a costly road and nothing happens quickly when you have to go through a government agency and that’s if you qualify for help to begin with. There is no price on independence, we all deserve the ability to live life to our best.
SMA type four is the better end of the stick I say. I tell people that I have the good one and that babies and children are far worse effected. Yet the professionals that are there to help us still know little about this genetic condition.
I will continue to push my physical boundaries even if that means being in bed exhausted for the next however many days. To date I still have what I call my ‘dicky walk’ barefoot I use my toes on my left foot to grab the floor and flick my ankle out, lean my weight in to my left and proceed to rock back and forth to move leftwards. It’s slow and taxing, but it’s the best my legs do. With the muscle wastage and lack of nerve coating, my muscles stay clenched when I am standing and doing my ‘dicky walk’. It means the Fibromyalgia is aggravated and the chronic fatigue also, but, use it or lose it!
I live in a rural area and have three teenagers, two of which are high functioning ASD.
It’s a full-on household at my place but we get through each week. My kids have witnessed the medical institution in its most frustrating form and I hope it brings them wisdom in years to come. They know how precious health is and to appreciate what you do have.