Maryze's story - Part 1

 

Maryze at the IPA Founding Conference, 1999

This is my contribution to the Pompe disease blog that Kevin O’Donnell created. I will first introduce myself. I am Maryze Schoneveld van der Linde and I was diagnosed with Pompe disease in 1979 when I was 8 years old.

My parents immediately became member of the Dutch Association for Neuromuscular Diseases (VSN). Around 1985 diagnosis groups were established within the VSN, so that patients with a specific disease could meet and also learn about the latest developments in their disease. My mother became part of the Pompe group and remained active for many years. In 2008, she would finally receive a royal decoration for her voluntary work all those years.

During one of the meetings of the diagnosis group, Wil de Geus, a woman with Pompe disease told the group that it was good to talk about good care for Pompe patients, but she didn’t only want care, but also a cure…afterall no one wants to have Pompe disease and a treatment was much wanted. The group members agreed and they got in touch with the scientists and physicians with knowledge on Pompe disease. These scientists and physicians were Dr. Christa Loonen, Dr. Arnold Reuser and Ans van der Ploeg. They were invited at our annual patient meeting and it was during one of those meetings I met Ans van der Ploeg for the first time.

She was young and working on her PhD on Pompe disease. I must have been 16 years at that time. I really admired her for what she did. Doing research on my disease and trying to understand what exactly is going on. Dr. Loonen too always was present on those meetings and always was interested in the person behind the patient. She is still a regular guest at our meetings even years after her retirement. After all we were not only patients, but also people with a life. One year later, in 1987, at another annual patient meeting Dr. Reuser asked me if I was interested to write with a woman with Pompe disease in Australia. This lady has asked him about the latest developments in his laboratory and also asked him if he knew some other Pompe patient to exchange experience and knowledge. I agreed to write to her, though I wasn’t that skilled in English at that time. Though so I thought, it is a good way to learn English.

From that moment on Linda Zaidan and I exchanged letters for over a couple of years, until internet made email and chatting possible. Linda was a couple of years older than me and at the moment of writing less affected than I. Unfortunately that changed…she soon became also dependent on a ventilator and she deteriorated quickly. From her I learned that an enlarged tongue and the inability to speak well or even to smile was not only a symptom in children with the infantile onset form, but also in adults with a very severe progressive form of Pompe disease.  In 1987 Anton and I met at a youth club and one year later when I was 18 we started our relationship. He knew about my disease, but decided that we could do it together. When we met I was still able to ride a bike and able to walk, but I too deteriorated.

In 1990, at the 2nd year of my study cultural anthropology at the University in Leiden, I was admitted to the ICU at the Utrecht Medical Centre to be put on ventilation. I was there for 5 days to get all the settings right and to receive optimal ventilation. After the weekend I went to my classes again, as I did have to prepare for some examinations. 3 years later my first wheelchair entered my life.

In 1993 my brother started his study Molecular Biology at the same University of Leiden. In 1995 I remember that he once came home and told my parents and me about exciting news he heard during class. He said that a teacher had told about this rare neuromuscular disease, that no one ever heard about, Pompe disease and that they were working on a very new biotechnological method to get a treatment for that disease. He told the students about their creation of transgenic rabbit that were genetically modified in such a way that the females produced the enzyme human alpha-glucosidase in their milk. The theory was that this enzyme, when purified, could be given to humans with Pompe disease.

My brother of course was excited and went to this teacher after class. He said: ‘Well you said that no one knows about Pompe disease, but I do. My sister does have this disease’. The teacher, Martin Verbeet, was very surprised that one of his students had a sister with this rare disease they were doing research for with the newest technologies available. He told my brother everything he knew. From that moment I had hope, though I also continued with my life knowing that people were at least working on my disease and that only 100 meters from where I lived in my students house in Leiden. Who could ever thought about that? If it was  pictured in a movie, you wouldn’t believe it.

Receiving my Masters degree in Cultural Anthropology at the University of Leiden, June 19 1995

In 1995 I graduated with a masters degree in cultural anthropology and went back to live with my parents in Varsseveld. My body had deteriorated so that I knew I couldn’t live alone. In spite of my physical problems I decided that my life would be as normal as possible, so I did apply for a job at several companies. Not long after I was invited for a job of 4 hours per week to work as a community worker with Turkish women close to where I live. It was exactly what I liked and was able to handle.