Ian Renouf-Watkins shares his thoughts, strategies and outlook on living with KD.
My family’s journey with Kennedy’s, I now realise, began many years ago when, as a 14 year old, I experienced a sudden and very physically debilitating episode. I was a super-fit teenager playing a plethora of sports, including rugby, cricket and hockey, when I was suddenly housebound for three weeks. It came as a complete shock and my family doctor couldn’t provide an explanation. In the end it was put down to ‘growing pains’. A minor change in the contour of my chest, meanwhile, was attributed to ‘hormones stabilising’. While I later became consciously embarrassed about the development of my breast tissue, I suffered no repetition of the muscle and joint pain I had experienced at the time.
From that point in 1980 until 2011, there was no further inkling that anything was wrong. I played sport throughout this period, though a gradual accrual of sports-related injuries meant that by age 36 my main pastime was golf, which given its more gentle nature probably masked some slow deterioration in muscle strength. I also put a weakening of my voice down to having been a smoker in the past and a passionate (and very vocal!) rugby fan in Gloucester’s glorious Shed.
In 2011, however, I had a very nasty fall while playing golf, shattering two bones in my lower leg and requiring some fairly complicated surgery. Having undertaken an extended re-habilitation with an excellent physiotherapist, walking eventually became less awkward, but I also had lower back pain, which was becoming increasingly pervasive.
In 2013 I was referred to a consultant surgeon regarding my back and he indicated that the problem was stenosis, or occlusion of the spinal canal, and that surgery was required. Having been unable to walk more than 250 metres prior to surgery in October 2013, the operation meant that a three month home-based recovery was necessary. Towards the end of that period, with increased regular walking, I and my family genuinely thought that a corner had been turned.
Within a few months of returning to work, however, and trying to maintain a consistent exercise programme, it became clear that my mobility was again going backwards, with stairs in particular becoming increasingly difficult. I must confess that I was increasingly depressed and recognised that something just was not right.
My first recourse was to again approach the consultant who had managed my spinal surgery. I underwent three further MRI’s and these determined that the surgery had been successful in clearing the spinal canal and that there were no further areas of my spine with stenosis. In turn, my consultant referred me to a neurologist, who immediately ordered a brain scan and, following a visual assessment, also referred me for electromyography, an electro diagnostic medicine technique for evaluating and recording the electrical activity produced by skeletal muscles.
The neurologist’s visual assessment detected weakness in my arms; gynecomastia (benign enlargement of breast tissue); an element of tremor in my hands; and fasciculations in my facial muscles. This assessment, combined with the results of the electromyography, made him fairly certain of a diagnosis of spino-bulbar muscular atrophy, or Kennedy’s disease (KD). To confirm this, he ordered some genetically focused blood tests and, after about three months, these returned a positive confirmation of KD. Kennedy’s had not been diagnosed in any of my family previously, but obviously I now know that symptoms can develop very late in life for some men and, therefore, be masked or indeed superceded by other illnesses.
Having been certain that the neurologist was accurate with his first assessment, made in the summer of 2014, the confirmatory genetic test results received in December last year came as no surprise. In some respects, the gap between the first potential diagnosis and the confirmation ensured that a kind of grieving process had already taken place, leaving myself, my wife and our three teenage children able to look forward and to start to make plans to fight every inch of the way.
My wife, Victoria, has been incredible and we have been totally transparent with our three wonderful children, believing that while it may feel like a blow, we can all make the most and best of every moment together by understanding the disease. Charlotte, our daughter, is obviously concerned about the future, knowing that she will be a carrier, but we maintain huge optimism that genetic research into KD will advance and ensure that, if she wishes to do so, she can go on to have sons in the future who will not manifest the disease.
While we will need to make some proactive changes to our lives – for example, putting our three-storey townhouse on the market and seeking out a more practical long-term family property that we can adapt to my future needs – we are trying, as far as possible, to live life to the full and with as much normality as is possible. That said we are also not living with any misconception that things will get better. We are merely trying to ensure that we all have a positive attitude so that we can embrace change and prepare for it.
My attitude is definitely, “no surrender!” The diagnosis for me has been liberating. I now know what my body has been experiencing, and that knowledge has given me the fortitude to try to enjoy every moment; to savour every second my mobility remains reasonable; and to plan for more of the same when it is less so. Honesty about how I feel and the ability, without brutality, to be completely direct in my communication with friends, family and work colleagues, has actually brought freshness to my life, sparking closer more vital relationships and more commercial success.
When you come to understand that ‘dancing around’ KD is a waste of time, it makes you recognise that the same is true with everything and anything else in life.
We, as a family, will do everything we can to assist research into KD and to raise awareness. If there is anything I and my family can do to help other families and individuals diagnosed with the disease, please don’t hesitate to contact us via the charity that Kate, her family and friends have so kindly founded. Nobody should feel that they are on their own with this frustrating and malicious disease.