Speech to Sanofi Genzyme, Mainz, Germany

Delegate feedback, Courageous, inspiring, optimistic, huge thanks for sharing your story.

On Wednesday 8th February I was delighted to speak to international delegates from Sanofi Genzyme Pharmaceutical Company at their conference in Mainz, Germany.

I shared my experience of being diagnosed with Pompe disease, a rare neuromuscular metabolic disease. I talked about events leading up to the diagnosis, the diagnosis itself and how, despite this progressive disease, I  manage to lead a happy, fulfilled and independent life.

I explained that the biggest shock of all was in 2003, when I was told that I needed to use night ventilation as my carbon dioxide levels were becoming dangerously high. This was a huge adjustment for our family.

In 2006, I was thrown a lifeline, and was one of the first patients in the North West at Salford Royal Hospital, Manchester to receive ERT (Enzyme Replacement Therapy). I explained how my experience of having ERT was a positive one and that although my mobility was still slowly deteriorating, my lung function tests showed a stabilisation over the last five years. As I explained, if your legs don't work, you can use aids but if you can't breathe you're stuffed!

I demonstrated that good support networks are vital to my quality of life and include, family, PA's (my special friends), hospitals, The Neuromuscular Centre in Cheshire, AGSD (The Association of Glycogen Storage Diseases) and Dial West Cheshire Shopmobility .  Exercise plays a big part too.

I explained how having such a disease need not define you. For the past ten years ERT has given me a new lease of life. I enjoy time with my family and friends and recently started my own business. 

Finally, I explained that the Pompe Community want to carry on receiving ERT and that their work is essential in stabilising our condition and giving us a good quality of life. We await the next generation of treatment. 

A privilege and a pleasure.
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A. Duckworth February, 2017
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