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Living with KD

Personal Stories

Robert Cotton, Born 1951 - England

Robert Cotton, Born 1951 - England

I am 50 yrs old and was diagnosed with Kennedy's Disease some 5 years ago; here is my story.

Although the diagnosis was made in 1995, I have suffered some symptoms since my early thirties. Back then I was already having problems with aching calf muscles and bad cramps in most muscles, this was despite the fact that I was quite fit then, playing Badminton and jogging. However with these early signs of what was to come I was also, more alarmingly, having chest pains whilst performing these sports. Tests revealed I had raised blood pressure, very high cholesterol/triglyceride levels and Angina. Diet made no difference to the lipid levels so I have taken drugs since then to help reduce them, plus more drugs to reduce my blood pressure and relieve the angina.

The symptoms of cramp and aching calves were, understandable at that time, put down to clogged arteries. Later problems with short-term memory loss were also put down to the high lipid levels (my cholesterol level was over 20 without drugs). So I carried on with my lot until a bad lower back (thin discs) as well as the angina prevented me from any sports. In 1991, at the age of 40, I was medically retired from BT where I was employed as a Computer Network Manager.

The muscle cramps gradually became worse but owing to my heart condition I could not be prescribed Quinine. Eventually the muscle cramps became unbearable and were preventing me from doing literally anything. When asked by anyone where I got cramp? I would answer by asking them to name a muscle, then I would simply use that muscle for a short while to put it into spasm. I had to purchase an automatic car since pushing down the clutch pedal down a couple of times would induce the cramp. In 1994, on a regular trip to my cardiologist I told him of the problems with the cramp, however by this stage my outstretched hands had developed a tremor and I was beginning to notice I was losing a little coordination in them as well.

In 1995, I was given an appointment to see a Rheumatologist.  By the time I saw him I had started to get fasciculations particularly in my legs which by then were aching after only a 100 yards or so. I was examined and after only a few minutes I was booked in for a nerve conduction test. Things happened very quickly after that. Within 4 weeks I had the test (which I knew at the time revealed some problems) and was back at the Rheumatologist. He said he wanted me to come into the hospital to have a muscle biopsy from my leg but while I was in hospital he would like me to see the Neurologist. Within 3 weeks I had the biopsy and was seen by the Neurologist, who within 10 minutes of examining me had asked his trainee to look up Kennedy’s Disease in the medical book. I stayed in hospital for the best part of three weeks and had all the tests one has to rule out all other ailments except ALS & Kennedy's. The KD test came back positive.

It never ceases to amaze me how quick my Neurologist spotted the Kennedy's Disease, although Gynecomastia was clearly evident then (as it has been since my adolescence). As soon as I received the diagnosis I went to the local library to research the disease, but there was no information available at all. My local General Practitioner, as well as his 4 partners at our local surgery, had not heard of the disease either. Indeed a search of the surgery library by my General Practitioner also drew a blank. I was beginning to think I was the only one who ever had this disease. I joined the Jennifer Trust for SMA (JTSMA) but soon realized the symptoms of the adult onset sufferers of SMA were not the same as mine. At that stage all I wanted to do was to speak to another sufferer of Kennedy's but it took me another 2 years to achieve that goal. If only the Internet Kennedy's Disease Association was available then.

Finally I joined the local branch of the Motor Neurone Disease Association (MNDA).

Whilst I am fully aware and grateful I do not suffer from ALS, at least there I met people (some with PMA) who did have similar symptoms. I asked my Neurologist whether I had a form of SMA or a form of Motor Neurone Disease (MND); his reply was that I had a form of MND. Through the MNDA I finally had a telephone conversation with a fellow sufferer in 1997, his speech was affected by the disease but it was good talk as they say in the ads. Sadly this sufferer passed away a few months after our conversation but since then through the MNDA I have met and spoken to others. My wife & I have become committee members of our local MNDA branch, we help raise funds for the association who accept people with Kennedy's Disease, indeed the association have bred mice with Kennedy's and are still actively performing research with these mice.

Later in 1997, I started to have real problems with swallowing. For many years I had always been a slow eater since I was unable to swallow anything other than small mouthfuls of food, but now it often went ‘down the wrong hole’ so to speak. This became a big problem and the whole family was becoming anxious at mealtimes since I would choke several times during a meal. In the end I was not able to sustain my body weight and I lost nearly 2 stone in some 7 months. Whilst it was good to lose the few extra pounds I had put on since stopping sports, I was losing more than just fat. At the end of 1997, I was fitted with a PEG (a feeding tube in my stomach). This sounds drastic but it has been a great boon. The PEG not only allows me to take in some food overnight but I can have all my tablets via the PEG as well (often my tablets would stick in my throat or I would choke). Currently owing to a changed diet coupled with a new eating style I have developed, I can still enjoy small meals taken with the family, only now I don’t have keep forcing down food (taking a long time & choking), I can eat the amount I can cope with. I now manage about ½ my calorie intake by mouth the rest via the PEG to maintain my body weight.

My condition at the moment (2001) is that like a number of sufferers with Kennedy's Disease, I have problems going up stairs and inclines and I use an electric scooter for going any distance. Muscle fasciculation’s throughout my body are rampant particularly in my legs, upper arms and more recently my left hand (the muscle between thumb & forefinger which is weakening and wasting). My tongue constantly fibrillates and my short-term memory & recall is deteriorating; however the latter may be due to other causes. The most frightening aspect about the disease is the throat/airway spasms I encounter which for me occur mainly when I lay down.

Things are not all bad though, I can still drive (an auto with power steering).  I use a heavy duty scooter to go on long walks with my family and I have recently purchased an electric trike so I can go cycling as well. As for the cramp I take two drugs Baclofen & Tegretol. These are normally used to treat MS & Epilepsy respectively but they help alleviate the cramp, although if I continuously use the same muscle and/or the weather is cold I will get cramp but not to the intensity I used to get. The side effect with the Baclofen is that it can make you feel tired which is a symptom I suffer from anyway, but this is a small price to pay so that I can at least enjoy some hobbies. I take three other drugs which help alleviate/relieve airway spasms, one which helps dry up my saliva overnight and two others which prevent liquid food (via the PEG) traveling from my stomach up to my throat. I know I take a lot of drugs but they each do their bit, as there is no cure for Kennedy's Disease (yet).  Ttreatment of each symptom as it occurs is, in my opinion, the only viable option. When I see the speed at which people with ALS can deteriorate I think myself lucky my progression is slow.

Finally I should mention I am lucky enough to have a family consisting of my wife Helen (whom I couldn’t do without), three sons Robert, Simon & Jason and two daughters (both carriers) Emma and Louise. Two brothers, one who has not got Kennedy's Disease and an elder brother, aged 64, who has developed the symptoms only in the last 2 years.