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, 26 September 2009

1994 continued

I'm really going through my big folder of emails, faxes, scribbled notes of phone calls etc. and trying to unpick what actually happened, so this narrative might seem a bit disjointed. Hopefully, others will now chip in with their own recollections to help fill in the gaps (hint).

For me personally, the big thing that happened with regard to this story was that I started building the Pompe Group in the AGSD-UK. There are several letters from people I met at the Newcastle conference, giving information, other contacts to follow up and so on. Email was not really widespread at this time, so most contact was by letter.

The main things I have are:

I persuaded the AGSD-UK to set up a Scientific Advisory Board, onto which Arnold Reuser and Ans van der Ploeg were invited, amongst others. This helped to provide some professional ballast for the AGSD-UK, while increasing its profile amongst medical and scientific professionals. You know, I still think that was a good move. Well done me;-)

The second thing was that the AGSD-UK set up a specific Pompe fund. This was to become a focus for fund-raising by the Pompe families (and still is).

The creation of the SAB was followed up by inviting Dr Ans van der Ploeg to speak at the next AGSD conference, to be held in Birmingham in May 1995. This invitation was in September 1994, so 8 months in advance. I'm flagging that up for a reason, so pay attention.

There was so much happening that I started a Pompe-specific newsletter - The Pompe's Bulletin - to use a a tool to keep people in touch and to spread the word. Initially 4 sides of A4 text, it has since become a high-quality, professional production. Of course, that only happened once I stopped having anything to do with it. You may see the start of a recurring theme here. Having said that, those newsletters, alongside the US equivalent produced by the AMDA (about to enter our story) are a pretty good historical record of events.

However, I can't let the round-up of 1994 pass without mention of the fact that we knew we were going to have another child and that our child would not have Pompe disease. chorionic villus sampling (CVS) is a technique that allows a sample of placenta to be tested for the presence of (in our case) alpha glucosidase. We had the test at 11 weeks. Not a great experience because you see the foetus on the screen, just like a normal ultrasound. We were trying not to look because, after all, we might have had to terminate the pregnancy. We knew that the sample was to be sent to Manchester and the test carried out there and were told to expect a result in a week or so. The hospital phoned the next day to give us the all clear. They must have had a courier waiting right there and then to take that sample to Manchester, where someone was waiting to - right there and then - start work on it.

The staff at the hospital were wonderful with us - though I don't think I've met anyone employed by the National Health Service who treats it as 'just a job'. They did everything they could to make things as easy for us as possible and treated us with great kindness. Hopefully we were able to show our gratitude at the time. However, there were a lot of people in that chain from Edinburgh to Manchester and back, who did well by us, and who we'll never know. People who are doing the same thing day in, day out for others. Our thanks to all of them from the very bottom of our hearts.

Euan was born in January 1995. The knowledge that we were having a healthy child made the last part of 1994 a very happy time for us.

So, the UK Pompe group was beginning to stir in 1994. This was only the start - the next year would see the start of an international network.

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