Patient Stories

Samantha

Vice President of NZPN

Hi, I am Samantha.
I am a Mum to two gorgeous kids, a wife, a Communications & Marketing Coordinator, and lastly I have Pompe.

My journey so far…

I was diagnosed in January 2014, but I believe I was symptomatic for about 7-10 years before this. Back in 2007, after the birth of my son, was when I really noticed that it was harder for me to get fit again. I used to love running and aerobics, but I was finding it all really hard work. I started stumbling during aerobics and falling over when running, and I experienced shortness of breath. But this went on for years, with me visiting physios and doctors and complaining of lower back pain, feeling out of breath, and leg pain.

Finally in January 2014, after 3 months of numerous tests, I was diagnosed with Pompe. While the diagnosis was devastating, I was also relieved to know what was going on. But what was even harder to hear than the diagnosis, was that there was an enzyme replacement therapy available that can slow down progression, but this was not publicly funded in New Zealand. Yet over 70 countries do fund it?!

I wasn’t prepared to watch my body fail me, knowing that there was a treatment available that could slow down this progression, so I decided to fight the system and advocate for better outcomes for medicine and healthcare, for those with rare disorders. I have been fighting ever since. I have met with MPs, been before Health Select Committees, met with Pharmac, and appeared in various media campaigns to raise awareness.

In November 2016 I was lucky enough to be asked to participate in a clinical trial for Amicus Therapeutics, for a new enzyme replacement therapy to treat Pompe. This treatment has proved very successful and I firmly believe if I had not received this I would be on BiPAP and using some form of mobility assistance by now.

I am determined to stay mentally and physically as strong as I can. I try to exercise as much as I can to maintain muscle mass, I meditate to help focus and I try to eat a lower carbohydrate diet. But, I love chocolate so I do treat myself. I’m no saint!