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Personal Stories

As a child I had symptoms like not being able to run or do sit ups in PE. When we walked a lot I was very tired and I thought I was unfit. My Nan used to say that I was a bit lazy and teachers at school said I should try harder. I used to fall a lot and my Nan said I could fall over a feather, but looking back I wonder was that to do with Pompe? These things happened all through my childhood. Then coming to adulthood I was always tired, and again put it down to laziness.

Aged about 36 I was in hospital for mental health difficulties and was invited to take part in a rounders game. I hit the ball but could not run at all and got run out despite everyone shouting at me to go faster. Fortunately, I overcame my mental health issues many years ago through a programme I attended on Dialectal Behavioural Therapy, which still helps me now.

Getting diagnosed

I moved to Leeds to a house with stairs and found I could not manage them at all, so went to see the GP who suggested more exercise. I got a rowing machine and rowed a lot at home but still got weaker. I saw another GP who referred me to a physiotherapist. Whilst she was trying to get a reflex in my knee she spotted something unusual and referred me to a neurologist. Then I was diagnosed quickly. A muscle biopsy, EMG and then DNA test confirmed Pompe disease. All this happened in about seven months. It was a relief to at last know that it was not laziness.

Starting Enzyme Replacement Therapy

I was referred to Salford Royal Hospital and started ERT in August 2008, one of the first adults. Staff there were knowledgeable and there were other people with Pompe having treatment, so it was really good to be able to talk to them.

I stayed on ERT for about four years but felt it was not helping, and was knocking me out for days so I took a break from it. After some more falls I re-tried ERT but again for me it did not have much effect so I came off it and have not started again since 2014.

Living with Pompe

My health is quite stable these days, I walk a little indoors with an aid. I use a motorised wheelchair outdoors. My tip for anyone is not to be frightened to ask for help. I waited a long time before getting a cleaner, but now I have one it really helps a lot. Also I suggest, use all the aids and adaptations you can get to make life easier. I sleep very well and have energy most days, but sometimes the afternoons can be hard and I am tired, so I do jobs and chores in the morning.

The AGSD-UK booklets have helped me and the Facebook groups have also been brilliant. I often check the “Pompe for Girls” group to see if symptoms are common or not. I tend to put all physical ailments down to Pompe, sometimes it is difficult to know whether a symptom is related or not. Should I see the GP or not?

Part of the community

I have always been very sociable and reading has been a good hobby for me. I love crime thrillers and especially John Grisham. My friends are wonderful and very supportive and help me to laugh at myself and not take everything too seriously. Each weekend I go out visiting and for lunch in a cafe. I love chatting and catching up with friends. My voluntary work is managing the Church Hall bookings for St Peter’s and St Margaret’s in Bramley, Leeds, so I am in touch with Beavers, Scouts, all sorts of fundraisers, craft fair organisers and lots of other people. It helps me to know I am part of the community and I contribute as much as I can.