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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Saturday, 14 November 2009

Making connections

The UK group was definitely stirring and I had a growing mailing list that I could send paper newsletters to. However I realised that there were probably patient groups and individuals in other countries going through exactly the same process - but how could I contact them?*  The answer seems simple now - just use Google, d'oh!  Unfortunately, in 1995 Google was yet to be invented. I had internet access at work though and was keen on the idea of using a website as a sort of shop window.

A bit of history/nostalgia. My first web browser was something called Lynx which was entirely text-based. I then started using something called Mosaic which had the startling innovation of allowing you to see pictures and text. I got a hold of it by email - you got sent the code for it in chunks and had to manually piece them together to make a functioning piece of software. Happy days.  But I digress.

I put together a rudimentary website for the AGSD-UK and included the full text of my Pompe patients' guide.  A friend at work kindly hosted on his webspace (cheers, David). But how could people find it? I emailed it around to anyone I could think of but there were no search engines as such. However a couple of students at Stanford University had used their university account to set up a sort of index for interesting websites, so I listed it there. They had called their site Yahoo. It'll never catch on with a name like that, I thought.

Anyways, I gradually made contact with people from other countries - individuals from Germany and the US to begin with. Then I got a phone call from a guy in the USA that I'd never heard of but who had come to the same conclusions as me and was determined to do something about them. His name was Randall House and he, along with his wife Marylyn, changed everything.

*I realise on looking through my papers that the original list of names I was given by Ann Philips contained one non-UK contact - Helen Walker from Australia. I'm surprised by that and also to find that I've now been in touch with Helen for 15 years! More about the Ozzies later.

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