Catherine Chilton
Catherine Chilton
I was officially diagnosed in August 2025, after what appears to be a short time, of just under three years.
During my journey from November 2022 to 2025 I discovered that I had Osteoarthritis in both my hips – how much of my Pompe condition had hidden this?
Bloods were sent to Finland in late 2023 and after 3 months arrived back in Nelson to “hide” away on someone’s desk until my GP discovered them in June 2024. This gave me my first mutation. The hunt for the second took another year. Gurthie Cards sent to Australia did not help and it was a skin biopsy sent to Sydney in March 2025 that did the trick.
So now that I was “official”, treatment would start. But it was not quite that simple, as the world had changed since the last New Zealander had been given the generosity of treatment from drug companies offering compassionate programmes.
For three weeks I had nothing. This was a period in my life that no-one should have to live though. No treatment and no-one in New Zealand to help. The doctors had completed the diagnosis. Who could I talk to about diet and exercise – no one. The isolation was amazing.
There are no departments at the hospital with our name on it, no annual fundraising that everyone knows and associates with your disease and no research in this country to help.
We have a minute Pompe community in NZ and with the privacy rules there are only a few lovely co-patients that are available to help. But these guys are very much experienced – where as I was the “newbie”, in what is now an ever-changing world.
I'm incredibly fortunate, now to be on the International Compassionate Access Program (ICAP) generously provided by Sanofi for Myozyme, which is an Enzyme Replacement Therapy (ERT). My first treatment was in March 2026.
One of the limitations I am finding out – is that New Zealand does not have the numbers to make things easier. As I understand statistically, we should have over 100 Pompe patients diagnosed in New Zealand.
There is no Newborn Screening for Pompe – when is that going to happen?
If GPs are unaware of Pompe – how will they know what to look for?
