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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Monday, 14 December 2009

The 1998 scene

I've been looking back through my archive of 1998. It's difficult to convey in words the sense of momentum, of excitement, of a community waking up. I have hundreds and hundreds of pages of Pompe emails from this time (they were all bundled into a Word document at some point) - and that is only the archive from my work email address. Along with the hard copy archive, they build up a picture of almost feverish activity. Patients, scientists and industry all communicating, sharing information, building relationships - motivated by a common goal.  Something truly wonderful happened in those few years, starting in 1998.  Although I wish I had never heard of Pompe disease, I also that feel, strongly, that it was a privilege to be part of that time. 

Once again, I must make special mention of Randall and Marylyn House. Their prime motivation, understandably, was to find a treatment for Tiffany. But they did not stop there. They could have developed their connection with Pharming, went home and not bothered to return anyone else's calls. But they didn't.  Randall spent a great deal of time and resources travelling the world attending conferences and encouraging people to start their own Pompe patient groups.  Marylyn continued to run the AMDA, grouping together the US patient community, putting out newsletters and organising conferences. They didn't have to do any of those things. But they did. And they made a difference - not just for Tiffany but for everyone.

I was soon to get the opportunity to see the work of the AMDA at first hand, when I was invited to speak at their third conference, organised in Bethesda, Maryland USA in December 1998.

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