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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Sunday, 31 January 2010

Maryze's story - Part 3

In February 1997 my brother, Onard, returned from his 6 month exchange program at Trinity
College in Dublin, Ireland. To hear the latest developments in Pompe disease,
he came with us to the patient meeting of VSN. At that meeting I introduced him
to Dr. Arnold Reuser. They talked and a little while later Onard applied for a
training opportunity at the Department of Clinical Genetics of the Erasmus
Medical Center in Rotterdam. He worked there from March 1997 till March 1998
and participated actively in the research in Pompe knock out mice and the
effect of enzyme replacement therapy derived from genetic modified rabbits.

He was not allowed to tell us anything, but my father always asked him if the sun
was shining in Rotterdam or if it was cloudy. Often the answer was that it was
shining. Later we heard from Dr. Arnold Reuser that it was sometimes tough, as
some mice got into an anaphylactic shock during the treatment with
alpha-glucosidase. This was a serious adverse effect, and then it is even more
serious when it concerns a disease your sister is suffering from. Luckily these
adverse effects could be managed well (Human Molecular Genetics, 1999, Vol. 8,
No. 12 2145-2153).

Thesis of Dr Anges Bijvoet, with a contribution from my brother, Onard Schoneveld.

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