Hi, and welcome to the NZ Pompe Network. This is just a quick note and more will follow later.
Firstly many thanks to Allyson for creating this web page – it has been needed for a long time – many many thanks.
I was diagnosed with Type 2 Late On-Set Pompe disease in 1990. Over the last 20 years there have many many changes but through it all I have worked out how Pompe and I can live together without too many problems.
I am 48 years old and live in Taranaki in the North Island. I have my Masters of Counselling with a passion for Narrative Therapy. Currently I am employed at Tu Tama Wahine O Taranaki as a Domestic Violence Counsellor.
Happy to be of any help I can and feel free to make contact with any of us through this site.
All the very best – be awesome!
PS – Recently I was asked to write a few thoughts about what it is like to have a condition where treatment is available but for economic reasons the treatment appears not to be going to happen in New Zealand .
The following is what I came up with:
Being diagnosed with any disease is incredibly devastating, but when it is an orphan disease it offers so many more complications. It appears there are no real benchmarks; there are not dozens of specialists with an interest in the disease, support groups, or a multitude of books written by knowledgeable experts, sufferers, or those that have struggled and survived. Most of the time it feels like you are entirely alone with the struggle. Mourning the continued loss of what used to be and now never will. Too afraid to open conversation with family members as they too struggle with the debilitating effects of this relentless disease. There is no way to gauge how well you are doing with the fight just the realisation each day that the fight must go on. Sometimes it is hard to know why.
I was first introduced to Pompe Disease in 1990 when after a barrage of tests and doctors I was informed I would be lucky to survive the year. A few years later I realized the doctor passing on this wonderful news was in fact confusing the adult late onset,that I had, with the infantile strain.
At the time I had two young children and a desire to be treated as ‘normal’ – well at least not to be totalized by a disease therefore losing my own identity. I decided that only those that had to know would know and I would continue life as ‘normally’ as possible for as long as possible. After about 12 years (so much for only surviving 1 year!!) I was contacted by a family member who had heard John Forman from LDNZ speak on the radio, and thought that maybe I would want to hear more about what he had to say. We looked him up and followed the links from the website and discovered there was an International Pompe Association and that they were having a conference to discuss a range of possible treatments. For the first time in over 10 years I felt the slightest twinge of hope. Although the conference was in Germany we managed, with a great deal of help to attend and the news of enzyme replacement and gene therapy was so exciting. Also to be around other people who Pompe had attacked was unbelievable. Finally I felt I was not alone in my struggle – even though I had to cross the world to gain that feeling.
A major outcome of that trip was the discovery of an internet group (GSD Net) that specialized in Pompe Disease and whereby patients, doctors, and families can post findings, ask questions, or just generally support each other in this battle. I came home with a new attitude of support and a lot more knowledgeable about what to expect in my future. The biggest hope was that there would be a treatment – it was just a matter of time!
About 4 years ago the FDA and other drug authorities around the world approved a drug called Myozyme and a large part of the Pompe population began treatment. The GSD Net became swamped with stories of who was getting treatment and what difference it was making to their lives. Understandably people were extremely excited and hope for a different and better future became the general topic of conversation. Patients began posting comments like:
“Four years ago I added Myozyme (aka Lumizyme) to my treatment. Since that time, my pulmonary function has stabilized, and in combination with all my physical therapy I have gained strength. Myozyme is not a cure, but over the long term I feel like it has made all the other work that I do much more beneficial. I even started skiing again!” – Hillary
Children diagnosed with Pompe were previously told they would not make 7years but now their parents are being told with the help of Myozyme that they should start saving for college.
In New Zealand however, the news is not so great. Whilst Myozyme is an approved drug there is no way the government will assist with the cost of treatment. What once was a time of hope for my family, friends and I, that treatment would arrive and at the minimum halt the progress of the disease, has now turned to one of frustration and disappointment. It is hard to know that for no fault of my own I have to watch my body slowly die when there is a way to prevent this happening available but for economic reasons Pompe sufferers cannot access it. I find myself thinking about the idiots that get drunk and wrap their car around a pole and require a few hundred thousand dollars worth of treatment to save their lives. Naturally there is no hesitation to do this, there is no choice. But for me to obtain the same care to save my life is not possible – because there is a choice!
The GSD Net that once provided a feeling of comfort, care and advise I now struggle to open and read. The daily postings of those who speak with excitement of how their life has changed as a result of treatment now haunt me. Not with any malice towards the writer but their words serve as a constant reminder of what could be but by all accounts never will be. I am forced to appreciate how quickly my body is deteriorating as theirs is improving. The group I once felt part of now separates and distances me by the recognition that they travel towards life and renewed hope whilst I do the opposite.
I struggle to understand how a country I am so proud of can decide to allow this disease to continue to inflict it’s cruel and painful onslaught on my body. If there was no hope, no possibility of change – as sad as this would be, it would be manageable. The fact that due to financial reasons my country is telling me that it will not offer me the chance for a better future I cannot believe. It is the hardest thing to understand how one person can be told they are worth saving whilst another is told they are not.
Now each day I try my hardest to focus on dealing with the challenges I must overcome to enable myself to be able to contribute to the many New Zealanders I work with. I try not to think about how much more I could do with the assistance of a treatment that has proven itself to be the salvation I once only dreamed of. Now I appreciate it may never be more than just a dream as I had the misfortune to not only be born with a disease but also to be born into a country that does not care enough.