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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Monday, 21 September 2009

A visit to Rotterdam

Give a guy a big nose and some weird hair and he is capable of anything. Frank Zappa*
I have previously talked about the scientific research into Pompe disease. However, one of the things I hope to do in this story is to try to give a picture of some of the people involved, as they appeared to me. As you might gather from the Frank Zappa quote above, this is a personal and slightly irreverent account of my first meeting with Arnold Reuser.

In late June 1994, I went to Amsterdam, to attend a scientific conference (the 4th International Congress of Plant Molecular Biology, since you ask)
. Elaine came with me. Of course, I immediately thought that it might be possible to combine this with a visit to the laboratory in Rotterdam which was carrying out Pompe research. So I wrote to Arnold Reuser saying that I would be in The Netherlands and hoped that it would be possible to come and visit him, though I understood that it might not be convenient.

He called me up to say that he would be happy for me to visit and when he heard that my wife was coming to Amsterdam with me, he invited us both to his house for dinner. And so, on 25 June (after the conference session, lest my employers be reading this) , we found ourselves taking the train to Rotterdam. Bear in mind that Arnold and I didn't know what each other looked like - no websites with photos in those days. However, Arnold gave some helpful advice as to how to identify him: "Well, people do say that I have a big nose. And I will be wearing a pink scarf." He was right - we spotted it from the other side of the railway station. The scarf I mean. It was enormous and circled him several times - an excellent ice-breaker.

We had a very nice meal with Arnold and his wife Mariette.  During this, I learned a lot about Arnold and his work and about Pompe disease in general. As I had guessed, funding was precarious. However, he was clearly a determined and dedicated man. His Head of Department used to visit his office every few months or so and say, in effect, "Hey, when are you going to stop working on a disease no one has ever heard of?" I suspect that doesn't happen now. Yet he persevered, on a shoestring, but was at something of an impasse. He wanted to take ERT to the next stage and yet knew that this would more resources than had been available to him so far. He said that Ans van der Ploeg was now a medical doctor at the nearby Sophia Children's Hospital and was also still very much interested in Pompe disease.

Naturally, we wanted to help but, at that stage, had very little to offer except encouragement. I hope that the knowledge that there were people outside of The Netherlands interested in his work did make a difference, however small.

As Elaine and I made our way back to Amsterdam, we reflected on the evening. Of course, it was fascinating to speak with someone who was so knowledgeable about Pompe disease, the condition that had become so important to us. And it is one thing to be familiar with someone's work through their scientific publications and quite another to meet a living, breathing human being. However, there was something else too. The sad fact is that, when you lose a child, some people you know will cross the road to avoid you. It's not because they are bad people and mean to be unkind - it's just that they don't know what to say and, well, it isn't a pleasant thing to speak to grieving parents. Yet here were two strangers who had invited us into their home and had wanted to know about Calum. It must have been difficult for them, particularly since their youngest child was then the same age as Calum. It's a kindness that we've never forgotten.

One other thing. When leaving, I had handed Arnold a copy of a pamphlet I'd written for patients called
Recent Advances in Research into Pompe Disease (correct, a snappy title - soon changed to Pompe Disease - a Guide for Families, still available from a website near you). I asked him if he wouldn't mind giving me some comments sometime. When we got back to our hotel in Amsterdam, there was a fax waiting, with encouraging comments in it. This had been sent at 10.30 pm. As I was to discover, Arnold's routine was often to work all day, go home to have dinner with the family and put the kids to bed - and then go back to the lab to do even more work.

So, what had I learned? I knew that there was a small but very determined group in Rotterdam who deserved our support - financial (though we had little in the way of that) and moral. For the first time, I had a sense that this was not a hopeless cause, that there was a battle going on that the AGSD-UK could try and play a part in - and that we had an ally. There would soon be others.

*Sorry Arnold, it was too good a quote to miss:-) This was from one of Frank Zappa's last interviews - fellow Zappa fans can find it here

1 comment:

  1. Frank Zappa... one of my heroes: what a good combination with Reuser, one of the persons I most admire after my son was born