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

Sunday, 27 December 2009

IPA Founding Conference part 2

As Trotsky once said "While we fight to change life, let us not forget the reasons for living."*

A few facts, first of all. The attendance list shows 66 people, drawn from patient representatives, scientists, doctors and industry. Patient represntatives came from Spain, Belgium, The Netherlands, India, USA, UK, Germany, France, Australia, Italy, The Phillipinnes, Japan and Australia, with scientists and doctors covering much the same spread. There were industry representatives there from Pharming, Synpac and Genzyme.

Those are the ingredients. The recipe involves people with a common goal, in touch via email and telephone, finally meeting for the first time.  Bring together in a Dutch hotel and let simmer for 3 days of intense discussion.

The end result was an occasion that none of the participants will ever forget. Both personal and organisational bonds were formed that have stood the test of time. The formal programme was, as can be seen from the link in the previous post, a comprehensive review of the 'state of the art'. Perhaps even more important though were the many discussions that took place 'in the margins'. That is one of the reasons I've kept the wine bottle shown above - to remind me that the social side was as important as the scientific.

It was a remarkable, unique occasion and one which hardly seemed possible just a few years before. It's fair to say, I think, that the internet helped make it possible. However it was people actually meeting together that provided the alchemy.  Everyone present went away enthused, and energised.

There was a real feeling that, at long last, progress was being made and that, even more importantly, here was a group of people who were joining together to take charge of their own destiny.

From now on the IPA would be the voice of patients worldwide.

*Yes, that quote is tongue in cheek. This commemorative wine given to participants by the VSN. While I've kept the bottle, the wine itself was drunk on 29 July, 2000.

No comments:

Post a Comment