The story of Suzy
I am 34 years old and was born with a rare neurological movement disorder called Hyperekplexia. I suffer with the genetic form, and my father was diagnosed at the time of my birth.
This is essentially where the glycine receptors in my brain work 400x faster than they should. This results in uncontrollable startles which can be triggered by audio, visual or tactile stimuli. When startled all the muscles in my body go rigid and I can fall. When I fall I fall like a log as the muscles in my arms and hands are so stiff I cannot move them to save myself. It also means that I suffer with myoclonus jerks which are startles in your sleep – these can be so violent I wake myself up with them. The muscles in my legs tire easily. Thankfully I am not in constant pain however the winter months are always more uncomfortable when the cold gets into my muscles and joints and stiffens them up.
As a baby I suffered two umbilical hernias and I had a poor sucking action as my tongue was so stiff. I had to have physio every day. As a child I walked on my toes, known as Ballerina Syndrome, as the muscles in my legs were so tight.
I have tried various medication combinations over the years; some with positive results and some with not so positive results. I was on Diazepam from 9 months old until 2 and a half years ago when I was taken off of Diazepam and put on Keppra. Unfortunately this was a not so positive experience and raised my anxiety about moving around greatly to the point where I now have to walk with a walking stick if I am having a bad day, however I do try and use it as little as possible. I currently take 4-6mg Clonazepam daily, however this is reviewed every year due to the tolerance build up that can occur. I have to do regular exercise, pretty much every day, such as CardioBarre and Yoga to help stretch out my muscles and keep my body as supple as possible. I also ride horses on a regular basis which helps with core strength and muscle strengthening all over my body.
The anxiety I suffer as a result of thousands of falls throughout my life means that I do not like being in crowds, I struggle with stairs and I absolutely cannot do escalators, as I am continuously worried about being startled and falling. My last major fall was two and a half years ago where I knocked myself out and ended up with a severe concussion – to this day I still have no memory of the days leading up to the fall!
I look like everyone else from the outside when I don’t need to use my walking stick. However the fear that I feel is unbelievable and the constant worrying is exhausting. Whilst some research has been done into this condition, this seems to have subsided somewhat as there is not much that can be done for us – there is no cure!