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.

Search This Blog

Tuesday 12 December 2017

What's next?

I haven't updated this blog for a while and thought that I should probably do so, even if only so that the last word isn't the Duke negativity. I know that the information here is in a somewhat clunky format, so my project for the New Year is to turn it into something more reader-friendly. I say that with some confidence as I am going back to university, so will have more time to devote to it.

At the risk of repeating myself, this is a great story that deserves to be known and understood, especially by the many patients now receiving enzyme replacement therapy around the world. Watch this space.