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Personal Stories

My story… so far

Growing up I loved sports and was a member of all my school’s teams, including being the netball captain. After school I loved keeping fit and regularly attended the gym.

I started to worry that something was wrong at age 37; I found myself getting easily out of breath, especially when walking uphill. Climbing steps and stairs also proved difficult. Initially it was thought that I had a lower back problem, and I received physiotherapy to try and strengthen my back and ease the pain in my hips & pelvis. After 4 months, and with no improvement, the physiotherapist realised that something else was wrong. She spoke to my GP and they agreed that I should be referred to a neurologist.

Finally a diagnosis

After many tests and examinations, on 21st January 2011 aged 39, I was told I had Pompe. Initially I was relieved, as at last I had an answer to what was wrong and there was a treatment (a muscular dystrophy was initially suspected, for which there was no treatment).

I embraced my condition and tried to tackle it head-on. I made early adjustments and adaptations to my home, fully taking on board the District Nurse’s advice to make those daily tasks that I have to do as easy as possible to save energy for the things I want to do.

Ups and downs

Over the next 2 years there were many ups and downs. Joining AGSD-UK and meeting fellow Pompe ‘peeps’ was among the highlights. It was with a great sense of relief that I met people experiencing the same issues, fears & anxieties and sharing ideas on how to cope better. However despite being optimistic when first diagnosed, I was completely unprepared for the speed at which Pompe progressed and the way that it affected my everyday activities. I have to sleep with a ventilator and simple tasks continue to leave me exhausted, resulting in me having to take ill health retirement from work, aged 41.

Counselling was a turning point

I eventually sought counselling as I realised I hadn’t really fully accepted my condition and the changes it was imposing on my life. Talking to a counsellor was a turning point for me. She made me realise that I was not a fraud; that other peoples’ opinions were not important; and anyway I wasn’t a mind reader and that my ‘new’ life could be as rewarding and fulfilling as my old life.

Just another splinter in the banister of life!

Mike and Amanda on holiday… on the Mekong Delta, Vietnam!

Pompe has had an enormous impact on my life, but I am no longer anxious about the future. My family have been, and continue to be, a huge support and a constant source of love, laughter and hope. I have also found alternative areas of interest, such as learning to play the piano, that keep me active, engaged and mentally stimulated. I no longer feel a failure and am living a fulfilling and rewarding life with my husband Mike. I have three wonderful step children, who are all happily married, and three adorable grandchildren. Life is good and in my humble opinion – ‘Pompe is just another splinter in the banister of life!’