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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Tuesday, 6 October 2009

Ans van der Ploeg's visit to the AGSD-UK conference

As mentioned in an earlier post Dr Ans van der Ploeg had agreed to speak at the 1995 AGSD UK conference, which was held in Birmingham on 28 May.

This was a very exciting prospect. For one thing, it would give the other Pompe families the opportunity to see that the Dutch team were not a figment of my imagination. The impact of a real person standing in front them talking about her promising research was not to be under-estimated. It would also mark something of a departure of the AGSD-UK, with a main talk at the conference being given over to Pompe disease, rather than one of the liver-based GSDs.

In short, I was anxious for it to go well. So when Hugo Del Mar, son of AGSD-UK co-founder Sue Del Mar, offered to pick up Dr van der Ploeg from the airport in his new two-seater sports car, I was delighted. "That will impress her!", I thought. I reflected on this example of my innate shallowness later, as I watched a fairly heavily pregnant Ans van der Ploeg extricate herself from the tiny sports car...

Ans van der Ploeg (yes, the one on the right) receiving an award for her pioneering work on Pompe disease.

The talk itself was excellent and well-received. It strengthened the resolve of the Pompe group to do something to support the work of the Rotterdam team and fund-raising began in earnest, though there was, at that point, nothing specific to support. Nevertheless, from that time on, we had a real goal.

Dr van der Ploeg was, needless to say, charm itself and dealt with her and her unborn child being squeezed into a sports car with her customary sang-froid. Many people (most, even) would have found pregnancy a more than adequate reason to cancel the talk. However - and this is typical of the whole Rotterdam team - having made a commitment to patients, she did not want to disappoint, regardless of the personal inconvenience.

Ans van der Ploeg is blessed with cleverness, good looks and a list of achievements that includes - aside from the minor matter of developing a treatment for Pompe disease - such things as national cross-country skating.

Normally of course, such a super-abundance of talents in one individual would draw the disapproval of all right-thinking people, given that so many of us have to get by with none at all. However, like everyone else, I am prepared to make an exception in Ans' case, as she has put her considerable abilities towards the service of others - and with such good effect.

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