Dr J C Pompe

Dr J C Pompe
Discoverer of Pompe disease

About this blog

What you can read here is the story of the development of enzyme replacement therapy (ERT), the first effective treatment for Pompe disease. It is an incredible story, rich with events, characters and science. Above all, it is the story of an international community of scientists, doctors, patients and companies, working together towards a common goal.

It is not a story that features in Geeta Anand's book, The Cure , or the film based on it, Extraordinary Measures despite the fact that they are ostensibly about the development of ERT for Pompe ( you can link straight to the relevant articles covering the events described in the book and film here, here and here).

This blog represents my small attempt to set the record straight and to give the story back to its rightful owners - the international Pompe community. It is written here in roughly chronological order i.e. you'll need to start at the bottom of the April 2009 archive page and work your way up.

It is also a personal account and, although I've tried to make it as objective as possible, there is an inevitable degree of subjectivity. For that reason I have included contributions from other members of the worldwide Pompe community and would be delighted to receive more. Feedback is also welcome.

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Sunday, 31 January 2010

Maryze's story - Part 2

In the morning of the 14th of November 1996 I was still in bed and felt not that well.  My parents were at work and Anton too was busy with a project. I was thinking about what to do, while at the same time I couldn’t do much physical activity as my body had deteriorated. Walking was very difficult and also breathing became such an effort that I often just sat on my bed or desk using the ventilator.

That morning I turned on the radio while laying still in my bed. The news was on an I heard a male voice saying: ‘A dutch biotechnological company had announced to develop a treatment for a rare disease. It would be the first time ever in human history that genetically modified rabbits were used to produce a medicine’. I was somehow shocked and felt awake right away. I sat still in my bed awaiting for the next bulletin to be sure. Then again it was said, but this news reporter added one little important detail: He mentioned it was about Pompe disease. I somehow still couldn’t believe it and walked to the living room to turn on the television and to watch video text. There it was in black and white: Pompe disease, treatment, rabbits.

I called my father and Anton. They too heard this news and were like me excited, but also with a bit of restriction as this news was so overwhelming that we couldn’t fully understand it yet. This was what my brother told me about.  Then the phone rang and a Pompe patient I knew very well, asked if I heard the news. We talked about it and she was like me very excited. We promised eachother to keep eachother informed. I dressed myself and kept listening to the radio that continued bringing the news out. Then I was called again. It was Ysbrand Poortman of the VSN who had attended the press conference in Geel, Belgium, where Pharming had a small pilot plant to produce the enzyme. Ysbrand Poortman too asked me if I was informed about the latest developments and I told him that I indeed was. He told me he was approached by the Dutch News Broadcasting Service (NOS)  and they wanted to interview a Pompe patient. ‘Are you interested?’, he asked. I said yes, without understanding the impact of this answer.

Articles in the international media on Pompe diseaseand its upcoming treatment derived from genetically modified rabbits.

One and a half hour later the camera crew and reporter were at my home. Luckily my sister and a good friend of hers also were home from school already, so they had tidied up my room a bit. Three hours later the news item on Pompe disease, treatment with rabbit milk and Pharming was on prime time news in the Netherlands. This was my first television appearance and many more would follow on broadcastings in the Netherlands, Germany, Belgium, BBC world and of course interviews with magazines and newspapers in The Netherlands, Germany, Belgium, Norway and Finland. Pompe disease was brought into the world.

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