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, 20 January 2010

2002 concluded - last thoughts on John Crowley

I described 2002 as the John Crowley era. In fact, it was the only time that John was directly involved in the Pompe project. As far as I can judge, he did a competent job and left a more patient-centred approach that continues at Genzyme to this day. That is his real professional achievement, I think, and it's not a bad legacy to leave. It's one he should be proud of.

However, was John responsible for the development of a treatment for Pompe disease, as The Cure implies and Extraordinary Measures more-than-implies? No, absolutely not.

John Crowley is, I believe, a good man and a good father. He is one of the worldwide Pompe family. He has a prodigious talent. However, for me, The Cure is the story of a talent wasted. The story of Novazyme, in particular, is essentially the story of a gigantic displacement activity. It's what kept John busy while the rest of the world got on with developing a treatment for Pompe disease.

I can't help but wonder what might have been. What if John had been more of a team player and that amazing energy and talent had been used within the international Pompe community? What might have been achieved then? Looking through my notes in writing this blog, I saw that John Crowley was originally down to attend the IPA founding conference in 1999 but did not come. What if he had? What might we all have achieved then? What if...?

I'm glad - beyond glad in fact - that John's children were finally able to take part in a trial of ERT. As I've said before, my heart sings every time I hear of a child or adult I know of starting treatment. And I'm glad that he and his wife have had the courage to tell the story of what it is like to cope with seriously ill children. That makes The Cure a moving book at times and, by all accounts, Extraordinary Measures a moving film. It's a story that many parents coping with seriously ill children will identify with and one that deserves to be more widely known and understood. It's a great thing that they have helped raise awareness in this way.  I just wish that they would tell the real story of the development of a treatment for Pompe disease too.

Pretty soon - already, in fact - new Pompe patients will simply accept that the treatment is there and not give much thought to how it came about. That's as it should be, I guess.  However if The Cure and Extraordinary Measures fill the vacuum, then a great disservice will have been done to the researchers who really did help develop the treatment and to  the international patient community who played a part in it. That's why The Cure is, ultimately, a disappointing book. It's a shame, because with a bit more competent research - and, perhaps, a bit more generosity of spirit - it could have been a great book. Another 'what if...?'  

That's why it's important that the real story is written down, so that it is not forgotten and is there for those who do want to know. One day, that story will be told by the great book that it deserves - until then, this rather sloppily written blog will have to do. But I digress.*

*Proving my point about sloppy writing. See what I did there?

1 comment:

  1. Now that some years have elapsed it is very interesting to compare the IPA and patient associations initiatives Vs. the Crowley project. The patient associations actions to organize the first Pompe congresses under the leadirship of Kevin, the Houses and other patients are a very good example of how it is possible to make up something very important from nothing, even if one has to depart from zero. Raising awareness, allowing the few scienticist in the world interested in this disease to meet and to discuss and share their views, diverting resources to the best labs... This was a hughe, hughe achievement, and all this was done by the right people co-operating and working in the right direction.

    If we compare this with the Novazyme fiasco we can only conclude that, in general terms, co-operation usually works much better than individualism. Crowley is a very talented man. An exceptional person. However, if you just work on your own, without implicating very valuable people who were already there, then you are in great danger of walking alone in the dark, of being blind enough to take the worst decisions without having the chance of being warned by someone close to you.

    I think that it was a shame that all the talent that Crowley has was wasted somehow, and all just because it did not really take part into a common project. All that effort led to nothing, at least from a medical point of view, and probably delayed the arrival of ERT into the market. My main concern is that, despite the bad experiences of the past, everything indicates that John Crowley is still flying on his own. It is impossible to learn if one does not want to learn.

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