‘You don’t know what you’ve got till it’s gone’ Colin Hopps

My mother was tested along with all her siblings; I was 41 and no sign of any problems. My elder brother by two years had however started to use a walking stick. So all I had to do was to be free of any symptoms for two years and then I would be sure of a non KD life.

I am much older and wiser now. Looking back I was in a fathers’ race at my sons school sports day, came near last, grey haired guys were going past me! It was four years later that it became apparent that my strength was disappearing. So here is the problem, this disease is very personal, unique to each of us. I have two brothers and we have identical numbers of repeats on our androgen receptor, the cause of KD. Our responses to it are vastly different.

This means I can only tell you how my version progressed. The legs are nearly always the first to affect your life. They carry a heavy load and are in constant use, with sometimes little recovery time. Up to the age of 45 I had a physically demanding job, lifting and frequently having to lift my body off the ground. This was getting harder to push up and I changed the straight push up to a mixture of push and pulling with arms. The arms were also unable to exert as much force as normal. I ignored all the above as getting older was a much more palatable answer.

I feel that of all the effects of KD, legs are the most life changing. Without them you’re in a wheelchair and that means a different lifestyle. At first there was a reduction in strength but not much else, subsequently I found aching in the buttocks was noticeable but not a real problem. My first disaster occurred at the age of 53 when in Paris and the queue for the Eifel tower lift was too long. It will be OK, and up and down the stairs I went. I got up the tower and down the tower, however, I had passed a point and my legs simply would not carry me more than 200 metres before I had to sit down. Bear in mind I had gone skiing the previous year albeit gently.

This has now become the norm. Aching legs, but at least the ache moves around the legs, shins, ankles, calves etc. The time for them to recover is directly related to the load, the time between rests and accumulative build up over days. We have just had a holiday of six days, I was careful but I now have a right shin that doesn’t want work properly 3 days later.

You can do serious, strain, damage to your legs. Again on a holiday, when everybody is walking off and you try to keep up. My legs have in the past taken 3 months to recover proper function, after straining! By which time I had given up hope of recovery. I have tried various methods to help my legs recover. Long periods of rest, say a week. I ended up weaker and unbalanced. Gentle use and soaking in a hot bath with arnica, lavender and rosemary oils has proved the best. I am currently 63 years old; I am still walking short distances preferably on level ground.

My arms have been less traumatic in their decline. I still have good range of movement and reasonable strength. However they tire easily and working at chest height or above is difficult and I am now excellent at telling other people (namely my wife) how to do things. I have good sensory use of my left hand but this is reduced in my right hand, in fact the whole of my right side is weaker than the left.

So much for my extremities, the part of my body to next be affected was my throat. After giving up physical work became a maths teacher, less work on limbs but I had to use my voice much more. At 50 my throat became weaker allowing air destined for my mouth to escape through my nose making me sound more nasal. Shouting became impossible, so I developed the strategy of counting to five while holding several textbooks. Then slamming them down on the desk! This usually did the trick. After 6 months the deterioration stopped and 13 years later no deterioration. I have cousins where deterioration did not stop and they cannot hold conversations. My throat however had more surprises and at about 55 I had a surprise when I inadvertently swallowed and the spittle went into my trachea I coughed but could not breath in, my throat had gone into spasm, it’s very pleasantly called ‘dry drowning’. Fortunately my brother had warned me about it but still frightened me, and everyone around me. I still experience choking, but my brother says he hasn’t for several years.

Within the last 5 years an additional problem has occurred while eating. Firstly my jaw muscles have been affected and chewing meat in particular has been very difficult, we have before now had to leave a restaurant because I could not find anything soft enough to eat. Swallowing also became difficult at about the same time, you will find people eat very fast and you will be the last to finish. I quietly hope they all have indigestion. This has not stopped us going out to eat careful choice of food and explaining to friends helps.
My latest challenge appeared a few weeks ago, starting with my neck twitching followed shortly by my neck being sore. Car journeys became unpleasant, the acceleration and deceleration pulled on my head and strained my neck. Then just as suddenly stopped, I still experience twitching in my neck occasionally but the weakness has stopped?

I have thought long and hard of how to mitigate the above. My priority as I said before, are my legs. So keep the weight down and do regular exercise, I walk and swim and play short hole golf. The golf tells me how my body is working and gives me hope especially when I have a good round. I find myself constantly working on new strategies and any that prove to be beneficial I will pass on.

I am aware you may or may not suffer from the above but if you have anything that can help others please let us know.