Select Page

Personal Stories

The Murduck family.

I live in Hampshire with my partner Stuart and our daughters Poppy and Amber. I was diagnosed with Pompe disease in February 2010. My main symptoms are breathing difficulties and muscle weakness which cause problems with day to day activities such as walking, lifting things or getting out of a chair.

The diagnostic journey

My symptoms started mildly in my teens and gradually worsened over several years. It was a long and stressful journey to getting a diagnosis but I now feel relieved, and am able to understand and make sense of my difficulties.

At the time of diagnosis it was really important to me to find out as much as possible about the disease and what steps I could take to help myself. I have been on ERT since July 2010 and this has helped keep me stable. I try to follow a high protein diet (although I can’t resist chocolate!) and I keep as active as possible using the gym and attending a weekly Yoga class.

Support from family and friends

Although Pompe has changed my life in many ways, I still feel hopeful for the future. I had both of my girls after my diagnosis (something I thought might never be possible) and experienced very straightforward pregnancies and births. I love every minute I spend with my family and although having Pompe does throw up some practical and emotional challenges, I’m very lucky to have family and friends who will help and support me when I need it.

Part of the AGSD-UK family

I still work part time as an occupational therapist which I really enjoy, and I lead a full and happy life. I really value the friendships I have formed with other people who have Pompe Disease and I love being part of the AGSD-UK family.