I first noticed problems getting up from the ground after yoga classes when I was in my early 40s.
I did a lot of walking and found I was falling over frequently but I just got up and kept going. After a while it was becoming so difficult to haul myself up I decided that I would join a gym to do my walking. At least there would always be someone around if I had a problem. I had a personal trainer and spent lots of time stepping up and down from stairs and blocks and on treadmills, bikes and stepping machines. Weights for strength and balance exercises to stop the falls.

During all this time, a matter of many years I had tried to seek medical help. Generally the answer was do this exercise, get fitter, lose weight, there is nothing wrong with you. Basically it was just because I was lazy and it was my own fault. I gather this is not unusual.
I broke my ankle and spent three months in a wheelchair because I couldn’t manage crutches.

After that I gave up exercising and put on a lot of weight. I also refused to see any more doctors or have any more tests. My sister, who is a doctor, and my husband eventually persuaded me to have another try. Two more specialists and many more tests later I finally had my diagnosis. It had only taken about 15 years since I first noticed a problem.

The specialist said you have FSHD, we don’t know much about it and there isn’t a cure or a treatment. At least I now knew it was real and that it was not my fault and I had an answer when I was asked what was wrong with me.

I was then sent to a Physio who showed me how to get up from the ground when I fell with the Gowers manoeuvre. It was as if I had my life back again. I was no longer afraid to walk out the front door.
Back to walking and I lost weight. Life was opening up again.

My last and current specialist is more understanding and he is trying to improve life for his patients if not the present ones at least the future ones. I’m happy to be a Guinea Pig for any research studies.

I have had a slow and inconstant deterioration in my ability to move. It is a continual process of adjustment. I find something that will work now but then have to swap that for something else. This is the case whether you are talking about transport (driving or walking to public transport to taxis), chairs (my wonderful Stressless chair that could swing around for a 360 degree view to a solid, immovable electric tilt chair), normal bed to hospital style so I get in and out, toilet raise, shower stool, walking stick… For many years I resisted all these aids but have now come to terms with it and don’t put off getting them. I try and make my daily life as easy and comfortable as possible.

I love to travel but have to be very careful about choosing transport and accommodation especially showers and stairs. I carry a portable step to get in and out of buses. I have another trip booked but for a very easy trip I feel like I am going on an expedition climbing Mt Everest.
It is doubtful there will be any more travelling especially on my own.

At this stage I am not walking as much as I used to as I feel like I am wading through water each step is such an effort. My legs don’t seem to go where I want them to and I tend to wander and wobble down the street. I am always very grateful when I get home in one piece. A fall doesn’t matter if there are no bones broken but one day i will break another bone and that will almost certainly be the end of my walking.

As well as the loss of mobility there are other problems.
One is that nobody including medical professionals understands. Most Physios think they can fix the problem if I just do these exercises, get fitter and lose weight. Have I heard that before?
Another is the tiredness and pain associated with it. I am constantly exhausted and the pain in my muscles varies but doesn’t go away. I also have cramps and spasms that can come on suddenly.
As well as FSHD I have a syrinx (a thin column of fluid pressing on the spinal cord). This means that I don’t know which condition causes the tremor in my hands or the numbness, pins and needles, quivering or altered sensations (parathesia) in arms, legs, shoulders, neck and back. Not that anything can be done either way.

I know that I have a mild form of the disease and it is not typical of many others. I can still raise my arms though with increasing difficulty and I don’t have the facial immobility that causes such trouble with communication and showing emotions. I consider myself very lucky for that.

It is hard to know what to expect in the future so planning is difficult. I have to make constant adjustments in my life and learn to pace myself. It is important to choose which activities to do and be prepared to say no to invitations and requests. My activities might decrease but more than that they are just changing.

However, I am still walking, still living on my own, still travelling, still enjoying life so all is well.

Helen McCarthy