In 2002, three years after the birth of our second child, at the age of 34 I was diagnosed with Pompe disease. The diagnosis followed a muscle biopsy and a three-month wait for the results. It was a relief, or so we thought, as prior to that our imaginations had run away with us, was it motor neurone disease, was it cancer?
We had a very supportive and understanding consultant, which made all difference. No question was a stupid question. He explained everything in a way we could understand. I probably had symptoms of the disease for years without even realising it. I never liked sport and hated PE lessons!
Three support teams and AGSD-UK
Soon after diagnosis my consultant referred me to the Neuromuscular Centre in Cheshire where I continue to receive regular physiotherapy and access to a specialist gym. The respiratory team at Wythenshawe Hospital in Manchester and the metabolic team at Salford Royal Hospital in Manchester also support me. In 2006 I was the first patient there to receive Myozyme infusions. I was also referred to AGSD-UK who were, and continue to be, a great source of support. I have attended many conferences over the years and it is always good to share experiences.
Now I could not sleep without my ventilator
A year after diagnosis, I faced another life changing situation. I was suffering from headaches and overwhelmed by constant tiredness. My blood gases were dangerously high and the only option was night ventilation. I struggled with this at first, but now could not sleep without my ventilator. For 5 years I have also been using a cough-assist machine, morning and evening. This clears secretions from my lungs. The equipment comes with me everywhere – on days out, overnight breaks and holidays.
A good quality of life
I believe that having a supportive family, good friends, understanding consultants, the Neuromuscular Centre, the right medical equipment, fortnightly infusions of ERT and using mobility equipment to help me get around, enables me to have a good quality of life.
Trips and holidays can be done
I do fall, I do get frustrated that things take forever and that I have to take “everything but the kitchen sink” with me whenever we go anywhere. Trips out and holidays take a huge amount more planning, but it can be done. There are things I am simply unable to do but I accept that and focus on what I can do. I am a mother, a wife and I work part-time.
I do worry about the toll my disease takes on my family. I often feel guilty for having to ask for help, but my family understand and are so accommodating and supportive. I know they all worry about me. However, we do make the most of family life.
I am 50 now and believe that living with Pompe disease has made me a better person. I try not to worry about the future as none of us knows what is around the corner. However, I do look forward to the day that gene therapy starts for Pompe disease.
My motto is “Life is for living and you only get one shot at it… Pompe disease or not!”