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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Wednesday, 2 December 2009


As well as ever-expanding email contacts, I was also involved with the flesh and blood GSD community in the form of the AGSD-UK.

I was a member of the AGSD-UK Executive and I'll try and give some small flavour of that here.  When I joined in 1993, the AGSD-UK was already an organisation in transition. From meeting in scout huts, it was growing in size and professionalism, with all the accompanying strains. The 1994 conference, organised by Henry and Janet Thomson, was the first which had gathered people in the same hotel overnight, with the conference proper in a nearby hospital. My wife and I took that to its logical conclusion in 1996, by organising the conference in Edinburgh and making it entirely hotel based - and so it has been ever since.

The AGSD-UK Executive used to meet in London, at the rather grand offices of a firm of solicitors, Winckworth and Pemberton, just round the corner from the Houses of Parliament. This was courtesy of the late Nick Owston who was a partner in the firm. Nick had Mcardles disease (GSD type 5) and represented those patients on the Executive. Nick was a real gentleman. He could have bought and sold the lot of us but you'd never have guessed - he was entirely unassuming. He was happy to host the AGSD-UK meetings and, on occasion, to provide top notch legal advice, all the while quietly encouraging things along from the sidelines. He also organised a robust international survey of Mcardles patients which remains the gold standard for information about that disease. It's a cliche, I know, but he really is much missed by everyone who knew him.

In my time, the husband and wife team of John and Sue Del Mar were chairman and treasurer respectively. Sue is charm personified and absolutely unflappable. She has always reminded me, as she will now be surprised to read, of Lady Penelope from Thunderbirds. I suspect that Sue will not find the comparison with a puppet to be a very flattering one. However, I can assure her that it is, as all men of a certain age will agree. John will be relieved to hear that he bears no resemblance to Lady Penelope's side-kick, Parker. John brought a business-like approach to the chairing of meetings and helped smooth things along, when they got sticky. As they did. Again, a successful businessman who cheerfully gave his free time to helping a small charity. John and Sue were two of the original founders of the AGSD-UK and have a son, Hugo, who has type 1.

Another regular presence was Phil Lee, a doctor specialising in metabolic diseases at the Institute of Child Health in London. Phil gave a lot of his time to help the GSD, coming to conferences as well as exec meetings  and providing some essential medical backbone and advice. He had enormous enthusiasm and, as well as research, was something of a pioneer in establishing clincis for adults with metabolic diseases. Again, a remarkable talent attracted to this small charity, helping it punch above its weight and a good friend to the GSD community. I was sorry to hear that he has recently retired through ill-health and I wish him well.

Which brings me to Ann Phillips, El Presidente. I love Ann dearly, and the fact that the range of talented people described above gave up so much time to such a small charity is a testament to her energy and commitment. She was (still is) a force of nature that the AGSD-UK just gravitated around. All that talent was just drawn in by centrifugal force. But, goodness me, it could be hard work.  Ann could be very single-minded and also had an understandable attachment to the organisation she had co-founded. This made for interesting meetings, which could ocasionally get heated. Sometimes she and I argued - she would occasionally try to spend the Pompe fund on other things, for example. However, Ann has a heart as big as the Atlantic that separates her US birthplace from the UK. You could have a stand-up row with her one minute and it was done and forgotten the next. The bottom line is that AGSD-UK simply wouldn't have existed without her and GSD patients in the UK and beyond will always be in her debt.

Ann co-founded the AGSD-UK because her youngest son Peter had GSD type 1. It is a real tragedy that Peter died in 2008, after 3 failed liver transplants. He was a fine young man, who, as well as contributing to the AGSD-UK in his own right, was a paediatric nurse, dedicated to helping others. The apple doesn't fall too far from the tree.


The Pompe report stuck out like a sore thumb from the rest of the AGSD-UK business, simply because there was so much going on - research, clinical trials, conferences, meetings with companies and so on. I would give some rather breathless account of what was happening and one of Ann's foibles was to listen and then say "Kevin, that's great but, you know, you should always say 'AGSD-UK' and not 'AGSD'  because that will confuse people."  Which always seemed like a bit of a non-sequitur and classic Ann. Imagine my huge amusement then, when I'd started writing this blog, to receive an email from Allan Muir, my Pompe group successor, saying "Good blog Kevin - but please remember to say 'AGSD-UK' and not 'AGSD'" Well it amused me anyway. You had to be there, I guess.

I do miss those AGSD-UK Executive meetings. They were a good supportive bunch of people (apologies to those I haven't mentioned - I stuck to the core people who were there all the way through my time on it.) and I always came away from them with a spring in my step.

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