I was diagnosed with Pompe Disease at the age of 46, in July 2010. I had symptoms for many, many years and had been sent from one specialist to another on a frustrating and tiring quest for diagnosis. In 2002 I had a muscle biopsy which gave no answers. In 2004 I had a return visit to that neurologist who said since I hadn't deteriorated in the two years since I had seen him I didn't have muscular dystrophy, but he was still none the wiser about what I did have.
In 2010 I went to the emergency department at my local hospital because of stomach pain (kidney stone it turned out) and was given a sedative and laid down on my back. I stopped breathing. This was the tipping point of my symptoms of Pompe and a real hurry up to the doctors to get to the bottom of what was wrong with me. I was referred back to the neurologist who had done the muscle biopsy in 2002. He said that because of my breathing issues I might have Pompe disease. So I did the simple blood spot test and it told me that I did have Pompe. The doctor said "in hindsight I should have known that in 2002." A big admission, and many years too late!
How do we get diagnosed in a timely manner when even our specialists who have knowledge of a disease fail to diagnose you? There is something seriously wrong! We rely on these people to help us. Not only do we have to put up with years of being treated like it's all in our head, or dismissed, or shoved from one doctor to another, we are also missing out on possible treatments and clinical trials which could give us a much better quality of life.
After my diagnosis I found that our Government refused to fund the only medication available for Pompe. Myozyme is now available in nearly 80 countries, including Australia, but in New Zealand it is only funded for infantile patients - although we don't have any. Very generous, thank you PHARMAC. Due to not being able to get treatment in my own country I decided that the only way to save my life was to seek out a medical trial. Fortunately, there was one recruiting in Florida, USA. I doubted I could make it happen, but knew I had to if I wanted to see my sons grow up!
I begged to get on the trial, I was desperate. The wonderful doctor running the trial said I could come over for screening. If I passed screening I would spend the next six months living in Florida while taking part in the early phase of the trial. And I PASSED screening! My father-in-law moved up from the South Island for six months to help look after the boys while I was away and my husband worked. This also paved the way for three other Kiwis to get on the trial. It was really amazing being in an environment where there were real experts on Pompe disease. You just don't get that in NZ.
While I was in Florida I made lots of new friends, travelled around and saw the sights and made the best of my time. I fostered cats from the local shelter, wrote a blog, stalked squirrels and rode for miles on my mobility scooter. I was so lucky to be able to be there and I appreciated every moment.
After six months I returned to NZ and began my fortnightly trips to Brisbane, Australia. This went on for three years until the trial site moved to Auckland. Then I travelled fortnightly to Auckland for 18 months until the trial was cancelled abruptly. The reason given was that the drug company wouldn't make enough money from the drug, and they needed to be responsible to their investors and shareholders. Yes, I know, it was terrible! Not only had this drug kept me alive and stable for five years, it was also my ONLY option for treatment.
Nine months later, Genzyme Sanofi gave me compassionate access to Myozyme, the drug that PHARMAC won't fund. I was so grateful! I have now been on it for over a year and doing really well. PHARMAC still isn't off the hook though!
Pompe disease affects different people in different ways. I can still walk, a little. But I lose my balance very easily and fall, then I can't get up without assistance, so I tend to use my scooter a lot. My breathing is around 40% of normal, I have to sleep with a breathing machine. I miss being able to do a lot of things, like mowing lawns, gardening, riding my horses. Although I'm nearly back to the stage where I can get on my horse with a special ramp my husband is building :) I make sure I do things which bring me joy, like sewing, making cheese from our goat milk, cooking, and many other crafts. This is really important. If we focus on the negative too much it could make for a horrible life.
I'm very fortunate that I can still travel overseas. Sometimes I take someone to help, sometimes I can do it by myself. This year I have been to Sydney to give a presentation at a Rare Disease Day meeting, and taken part in a patient advisory board in San Antonio, Texas. Advocating not only for myself but for others with Pompe disease has also helped me to keep a positive attitude. It is important to me to be involved with making things better for our patients, both current and any new ones that will come along in the future. I want things to be so much better than they were when I was diagnosed; hopeless, no information, doctors who don't listen.
Through our advocacy New Zealand now has four patients on compassionate access Myozyme and four patients on a trial for a new enzyme replacement therapy. We recently held our first Pompe conference in Auckland and it was a great success. We had overseas speakers, including the wonderful doctor from Florida who accepted me onto the trial back in 2011!
Services, care and support I would really like to see would be along the lines of what ACC provides. I have had to buy my own van suitable to put the scooter lift in to. I have had to buy my own scooter. I have to buy masks and hoses for my breathing machine as we only get funded for one a year. We've had to make adjustments to our house at our own cost. Being disabled is extremely costly and we are only able to have one income. There are so many more alterations we need to make to the house that we just cannot do. A safe bathroom, an oven and cupboards at a level I can reach, paths for my scooter... the list goes on.