Patient Stories

Christine

Committee Member NZPN

Hi, I’m Christine
I’m married and have two adult children and two gorgeous grandchildren.
I am a semi-retired primary school teacher.
We live on a lifestyle block in Albany and have 21 angora goats, 2 steers, 8 chickens and a dog and a cat.

My journey so far…

I was diagnosed with Pompe in 2013.  The symptoms didn’t really start to affect me until I was in my early 50’s; around 2005. Before that the main thing was the way I stood and walked. People were often asking me if I had a sore back. I was also weaker than other people, I couldn’t lift things and help when shifting furniture etc.  Around the time I turned 50 a friend and I joined a gym. We did the aerobic classes and some pump and step classes. We did that for about 3 years. When we stopped I started to notice that my legs felt heavy and I felt clumsy walking up kerbs etc. In 2009, I had a back injury and the physio I went to referred me to a back specialist. After a 6 month wait for an appointment the specialist took one look at me when I walked into his surgery and said “there is nothing wrong with your back. I am going to refer you to a neurologist”.  I saw Barry Snow who diagnosed Limb Girdle Muscular Dystrophy. He then referred me to Dr Hutchinson at Auckland hospital.  Unfortunately, I got mixed up in the Hospital Board’s system because it took nearly 2 years to get to see Dr Hutchinson. I saw a couple of other neurologists in the meantime, one queried the Limb Girdle Diagnosis and in his report, it was noted that I had a “curious gait”. After my second visit to Dr Hutchinson I was tested for Pompe.  It came back positive.

I guess I am lucky because Pompe hasn’t affected my breathing too much. I am still mobile and able to be fairly active. I do day to day relief teaching and walk our dog regularly. I go to a small local gym with a trainer who has come to a session with the hospital physio so he understands my limitations and what I need to work on.

I was fortunate to be accepted onto the Amicus drug trial in Adelaide. It felt like winning lotto!  I have had no side effects and I think my walking is stronger. Things are looking good.