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

Saturday, 19 September 2009

My first AGSD-UK conference

When Calum was diagnosed, one of the few things the hospital could do for us, was to give us a leaflet for an organisation called the Association for Glycogen Storage Disease (UK) (and also for the Research Trust for Metabolic Diseases in Children, now Climb) .

We called Ann Philips, the President, and she put us in touch with other families who had had a baby with Pompe's. It was an enormous comfort to speak to them - other people who understood what it was like to have lost a child to this rare disease. So we decided to go to their annual conference, which was being held in Newcastle on 29 May, 1994.

The organisers, Henry and Janet, couldn't have been kinder to us and they - and Ann - made us feel very welcome. Most of the conference dealt with the other types of glycogen storage disease - reasonably enough, as that reflected the membership. However, at some point, the Pompe families met together. I don't have a note of everyone who was there, however it certainly included the Harringtons (who had also lost a child to Pompe's and became good friends of ours) the Critchleys and Allan and Barbara Muir. Allan is the current UK Pompe supremo and (I'm jumping the narrative gun a bit here) has made a much better job of it than I ever did. If you are doing a job that really matters to you, then I can wish you no greater blessing than to have a successor who does it better. It's certainly been a source of great happiness for me - cheers, Allan!

But I digress. At that small gathering I spoke about the ERT research and we gave ourselves a target to raise funds to help it. I also found myself on the executive of the AGSD, representing the Pompe group.

Without really thinking about it, I'd made a decision that whatever efforts I made regarding Pompe disease, it would be as part of this group. In retrospect absolutely the right decision (how I wish they were all like that). The alternative was to start a new group specifically focused on Pompe disease. However being part of a larger group brought the advantages of critical mass (for example, tagging on to a group big enough to organise a proper conference) and opened me up to the constructive criticism of others. Both important things.

Of course, I didn't realise then quite how much of my life this was going to take up for the next 10 years or so... It is not an exaggeration to say that this was a meeting that changed my life.

The very next month, I was to have another important meeting.

No comments:

Post a Comment