My Disability

I have Hereditary Spastic Paraplegia.

HSP (Hereditary Spastic Paraplegia) refers to a group of rare inherited neurological conditions characterised by progressive spasticity and weakness of predominantly the lower limbs. This can cause severe gait (walking pattern) abnormalities and lead to some people being unable to walk.

It affects around 1 in 10,000 people and there are currently more than 30 known genetic mutations that can cause it, including dominant, recessive and x-linked forms. HSP is caused by genetic mutations leading to degeneration of the long axons of the upper motor neurones (the nerves in the brain and spinal cord which carry signals to the legs). Nerves in the brain's motor cortex control voluntary movement, they deliver signals via axons to lower motor neurones in the spinal cord. These spinal motor neurones transmit their impulses to the muscles. In HSP there is degeneration of the brain's motor nerves (upper motor neurones), as a result of this nerve impulses do not adequately reach the spinal motor neurone. this means that when the signal reaches the muscles in the legs it is not able to be interpreted resulting in spasticity and weakness. These symptoms increase over time as the nerve degeneration progresses. There is no cure for HSP, but there are treatments that can help manage the symptoms.

In my case, HSP did not really affect me until I was about 12, although I had shown signs since the age of 2. When I first started walking, my parents noticed that I turned my feet in, and that I didn't really pick my feet up properly, I was taken to see doctors who said that it was something I would grow out of. Then, when I was about 6, I started complaining about pain in my legs, and I was taken to see doctors again, who gave me exercises to do and said again that I would grow out of it. I was also taken to see doctors at about the age of 9, who gave me insoles to help with my feet rolling over when I walked. This was something that often forgotten about, and although I was always clumsy and quick to tire, it was never really considered a problem.

This ended when I was around the age of 12. By this age things were starting to progress at a much faster rate, I could no longer pick up my feet, and my legs were starting to stiffen up. I developed a very unusual gait, with my hips and knees turned inwards, crouched, and on my toes. At this point the doctors began to take action, I was referred to see neurologists, who were baffled, and ordered a multitude of tests, including a brain and spine MRI, EMGs and nerve conduction test, blood tests and a lumbar puncture. One theory was that I had a mild form of cerebral palsy that had gone largely unnoticed until a major growth spurt caused my muscles to tighten up, other doctors thought I had a form of dystonia. After many tests coming back negative, I was eventually diagnosed with Hereditary Spastic Paraplegia at around the age of 14, as despite it not showing up on genetic tests, my symptoms were very typical of the disorder. It is currently believed that I have either one of the rarer forms of HSP (only the most common genes are routinely tested for) or a whole new form of the disorder (a gene that I have mutated myself). This makes me a very rare person.

Today the effects of my HSP are quite obvious, I no longer have any voluntary movement from about the mid-chest down, so I cannot stand or walk, and I rely upon a wheelchair to get around. I also experience spasms in my arms and legs, which can at times be quite violent and painful. Although there is no cure for HSP, there are treatments that can make living with the symptoms easier, I take a number of different medications and have an intrathecal baclofen pump implanted to help lessen my spasticity.

Despite my disability, I am still able to do anything everyone else can, I just find my own way to do it.