Adam Hewber

Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis (FSP), refers to a group of inherited disorders that are characterised by progressive weakness and spasticity (stiffness of the legs). Early in the disease course, there may be mild gait difficulties and limb rigidity. The symptoms of spastic paraparesis typically slowly progress so that individuals with this condition may eventually require the assistance of a cane, walker, or wheelchair. Primary features of “pure” Hereditary Spastic Paraparesis are progressive lower limb spasticity and weakness.

Other symptoms may also accompany complicated forms of spastic paraparesis. These additional symptoms can include impaired vision due to cataracts and problems with the optic nerve and retina of the eye, ataxia (lack of muscle coordination), epilepsy, cognitive impairment, peripheral neuropathy, and deafness.

The diagnosis of Hereditary Spastic Paraparesis is primarily by neurological examination and testing to rule out other disorders. Brain MRI abnormalities, such as a thin corpus callosum, may be seen in some of the complicated forms of HSP. 

Hereditary Spastic Paraparesis has several forms of inheritance, and several genetic mutations are identifiable. Specialised genetic testing and diagnosis are available at some medical centres. Not all children in a family will necessarily develop symptoms, although they may be carriers of the abnormal gene. Symptoms may begin in childhood or adulthood, depending on the particular HSP gene involved. It manifests differently in different people.

In my case, Hereditary Spastic Paraparesis was evident from early childhood, in a lack of balance, having difficulty learning to walk, and being unable to run without falling. I remember people fussing about me when I fell, as they believed only those who remain perpendicular are considered normal. I also had trouble holding a pencil. My speech was affected as my tongue movements were not as nimble of those of other children. My parents encouraged me to use plasticine and playdough to mould funny faces and figurines. My first experience with the arts improved my hand dexterity.

At the age of five, doctors suggested that I use a wheelchair to reduce injury incidence through falling. My stubbornness and my parents’ desire to see me grow and experience life as close to normal as possible, allowed me a variety of life experiences. It was not always in my best interest. I had numerous cuts and abrasions and some more severe accidents. 

Robust exercise routines allowed me to walk with an acquired but very awkward gait to propel myself along until thirty-three. Repeated falls raised concerns. A severe accident in 2009, where I fell and broke through an asbestos wall and ripped my arm muscle to the bone, was the final sign that I needed to make serious adjustments. The accident made me reconsider the advice received many times before that I needed a wheelchair for my wellbeing.

My father and principal carer’s heart attack then sped up the process. The care organisation “Rocky Bay” prescribed and assisted me in the procurement of a motorised wheelchair. However, the reduced movement resulted in a significant loss of ability until I could no longer safely transfer from the wheelchair to my bed. After eighteen months, I had also gained thirty-five kilograms. Loss of exercise, diet, and epilepsy medication contributed to weight gain. During the years, Rocky Bay has helped me maintain some movement. In 2019 I had managed, with help, to achieve a total walking distance of 250 meters with a walker without a break. I continue today to work with Rocky Bay to continue maintaining as much movement as possible. The Covid-19 restrictions to regular gym workouts dramatically affected my mobility again.

Epilepsy is also part of my condition. I experience a lack of muscle coordination and peripheral neuropathy visible as involuntary shakes and numbness in my arms and legs. I have a minimal feeling from the waist down. Problems with the optic nerve and retina of the eye mean that I have difficulty focusing, which is particularly obvious when I become emotionally affected. To counteract this effect, I have learned a deep meditation technique called Kriya Yoga. I have also participated in the research and development of sound vibration therapy recordings that help reduce anxiety, available on CD.    

Perth Neurologist Dr Phillipa Lamont, specialising in paediatric neurology and genetic and rare diseases, finally diagnosed my condition in 2007. It came as a great relief as I then began to understand better my restrictions and how I might be able to counteract them. The diagnosis helped me to seek the most effective assisting technologies and exercises to delay my debilitating progress. 

During the last decade, I have encountered some well-meaning occupational therapists and physical education professionals with limited understanding of my condition. Often, they had to concede that they cannot make me run a mile regardless of the number of weights I can push on a good day. The next day I might be unable to lift the least weight or follow the most straightforward routine. During periods of illness where exercise routines were reduced or lapsed, my muscle memory became lost, and I retrained to regain specific movement. Therefore, my exercise regimen follows a stringent pattern over at least three to four days per week. A variety of repeated actions are required to retain the muscle memory needed to perform tasks like transferring from the wheelchair to the bed and performing toiletry activities and similar.

Adherence to a strict exercise routine has also improved my cognitive impairment and has resulted in increased mental dexterity. Therefore, my support is selected to assist me in achieving my physical and mental goals.      

The period of restriction during the COVID-19 pandemic has once again highlighted how quickly my acquired physical dexterity diminishes. Every time there is a lapse, I must try twice as hard to retain my movements. The longer the setback, the longer it takes to regain what I was previously able to do.