Changes

May 19, 08:23 AM

Dear reader,

A lot has changed in my life the past years. In this letter I want to inform you all what exactly has changed and what it means to my life and future.

Pompe disease
I was born with a rare hereditary progressive neuromuscular disorder called Pompe disease (also known as glycogen storage disease type 2). I was diagnosed at the age of 8 years. Throughout my life I experienced the many aspects of the devastating deterioration process. From being able to ski, (ice)skate, bike and walk I ended up in a wheelchair, on respiratory support and a G-tube. Thanks to the support of my family, my partner and friends I was able to cope with all this, though it wasn’t always easy.

The huge change in my life
In 1996, just after I graduated from university and started to work as a community worker for a few hours a week, my life changed. In the morning of November 14th 1996 I listened to the news bulletin on the radio. A voice said that Pharming, a Dutch pharmaceutical company, started to develop a medicine for Pompe disease in transgenic rabbits. From that moment on I became actively involved in the process of the development of enzyme replacement therapy. Together with others I was closely involved in the International Pompe Association for which I did a lot of voluntary work.

Enzyme replacement therapy
In 1999 the first clinical trials with enzyme replacement therapy derived from transgenic rabbits started. Unfortunately I wasn’t selected to participate in these trials. At that time I was able to walk a little and very important, I was still able to stand what allowed me to make transfers independently. Meanwhile Genzyme took over the development of enzyme replacement therapy after Pharming had financial problems.

In 2003 I was given the chance to participate in the Expanded Access Program from Genzyme. This was a special program that allowed severely affected individuals to receive enzyme replacement therapy before market approval. Without this special program that allowed me to receive treatment I know my body would have deteriorated much worse. When I started my treatment I was already severely affected; I couldn’t walk or stand; was depended on respiratory support almost 24 hours a day; depended on feeding support via a G-tube and was fatigued all day.

Improvements
However after 10 months I noticed an improvement. I wasn’t tired during the day anymore. I stopped using my G-tube and I am able to keep a healthy weight with normal eating now. Experiencing those important improvements I knew my future perspective had changed. From the time I was diagnosed I knew that I didn’t have a normal life expectancy. My expectation always was that with 40 years my life would be over.

My new future
Thanks to the improvements from enzyme replacement therapy I will get a chance to reach an old age like most people in Western Europe. This new future perspective means that I have to take care of my old age pension. To be able to take care of that I started, despite of my physical limitations, my own business called Patient Centered Solutions, a consultancy in health and care. If you like to know more about Patient Centered Solutions, please have a look at the website under ‘About us’ , ‘Services’ and ‘Clients’. For me Patient Centered Solutions is an important step forward and an adventure I never thought I would start.

With kind regards,

Maryze Schoneveld van der Linde