Introduction

Where to begin?

Just 16 years ago, Pompe's disease (glycogen storage disease type 2, acid maltase deficiency) was still an untreatable condition, invariably fatal in infants and relentlessly progressive in older children and adults. That is all changed now. The story of how that change came about is a remarkable one. It's a story that I have been threatening to write a book about for the last 6 years and have signally failed to do so! This blog is an attempt to put that right and to do so in a way that allows the wider Pompe community to add to, comment on and correct what I have written.

I have to confess that this blog is also, in part, a reaction to Geeta Anand's book, The Cure, soon to be the basis for a Hollywood film. It's not a bad book. It's the inspiring story of one man, John Crowley, whom I rather like and admire. What it is not is the story of the development of a treatment for Pompe disease. In fact, in that respect, the book is akin to reading a history of World War 2, told entirely from the perspective of Switzerland: "Skiing good. Apparently the neighbours are fighting about something or other. Most importantly, we have invented Toblerone!"

The Cure misses the main narrative out altogether, along with most of the important milestones in the development of enzyme replacement therapy. However the most glaring omission is the complete absence of any mention - any mention at all - of the role played by the international patient community in bringing about the availability of a treatment. The alliance between patient groups, researchers and industry is a model for the development of treatments for other rare diseases.

This is a story that needs to be told and I will attempt to do that justice here, though I hope I will have some help. I have a large file of material that I intend to work my way through - I know that others have their own archives and I hope that they will contribute from them. The result may not be strictly chronological but I hope that it will be as objective as possible.

Lastly, a quick word about myself. I'll post the story of my involvement later, however, just to be clear at the outset, I have no claim to have played any significant part in the events that will be described here. What I did have, was a ringside seat during what was a very exciting time. What follows is the view from that ringside seat.