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Personal Stories

A real struggle for 10 years

My name is John and I am a 57 year old man with Pompe. I didn’t know I had Pompe until I was 54 but with hindsight, I now realise that I have been living with it for the majority of my life. On reflection the last 10 years have been the greatest struggle. I only started to realise something was wrong when I couldn’t lie flat, and even sitting in my car on a steep incline caused me to gasp for breath.

At the time I owned and ran an international translation company and worked with schools in the UK and foreign governments on migrant issues. This meant I was away quite a lot of the time, living in hotels. My hotel questions started with the obvious, “Do you have a room?”. Then followed with an unusual question, “Does it have a comfortable chair to sit in?”. This might seem odd, but when you can’t lie down and have to sit up all night, a comfy chair is so important.

John when Mayor of Kingsteignton, Devon.

Referred to cardiology…

On returning from one of these trips I visited my doctor who was perplexed, but referred me to a cardiologist in the local hospital in Devon. He found out quite quickly that my diaphragm was paralysed, but couldn’t explain why and told me that sometimes it just happens. He put me on heart medication, goodness knows why, but it didn’t make any difference at all. My condition worsened and my doctor wanted to put me on oxygen at home. I wasn’t averse to this, as breathing was getting more difficult and both my father and grandfather had been on oxygen at home prior to their deaths.

I was extremely ill at this time and couldn’t stay awake for more than a few hours, hold a cup without spilling the drink, or hold a pen to write. I quite expected to die, and my wife and daughter thought the same. I decided to move back to Wales so that I could die where I was born. I visited a local doctor who referred me to a respiratory specialist who gave me a BiPAP. It was like a revelation. I went from not keeping my eyes open and shaking, to feeling like I could go ten rounds in the ring.

… then to neurology

I was then referred to a neurologist who did a series of blood tests and then suggested a genetic test. He thought I might have a GSD, but quite openly said that he had been testing for this for 20 years and no one had ever come back positive. I was the first! He did the test again to be sure and it was confirmed. From knowing something was wrong to diagnosis took almost 10 years.

Finally, people who understood

When I was diagnosed, I contacted the AGSD-UK who gave me advice and more importantly support. Jane contacted me and suggested that I came to the annual conference in Bristol. This was eye opening, there were people like me that talked openly about living with Pompe and understood the issues I was having on a daily basis. Jane has been there by my side every step of the way, reassuring me, helping me and boosting my confidence when I feel low.

One of the lucky ones

I’m one of the lucky ones, I have a wonderful wife who helps and supports me, but I also have a great Facebook community that keeps me informed and entertained on a daily basis. I joined the Pompe Support Team (PST) two years ago because I wanted to support others the way that I have been supported by the Pompe community. I have found a wonderful group of people; Ben, Gemma, Vicky and Donna who keep in touch regularly to offer practical advice and keep up my spirits.

Thanks to the PST and all at AGSD-UK

Without the AGSD-UK I think life would have been so much more difficult, and despair would have swept over me more than once. So thank you to my Pompe friends, Julie Garfield is a real treasure who inspires me to try even harder; the AGSD-UK Specialist Care Adviser, Jane Lewthwaite, who never fails to be there when I need her; and the PST for working to make my life better, and those of others with Pompe.