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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Friday, 24 April 2009


The morning glory that blooms for an hour, differs not at heart from the giant pine that lives for a thousand years.

Buddhist proverb
It was Friday 28 May, 1993 and one of the happiest days of my life. I was driving across the border from England into Scotland, to a new home in Edinburgh - the city I had always wanted to live in - and to my dream job, running my own molecular biology laboratory. Best of all, I had my family in the car with me - my wife Elaine and our two-month old baby son, Calum. Life was sweet. Yet within a few short months that sweetness turned to dust in my mouth.

Everything was fine for a couple of months. I busied myself with settling in to my new job, while Elaine and Calum went house-hunting. Then Calum seemed to be getting a lot of colds and sniffles, which took longer and longer to go away. It never occurred to us for one moment that something could be seriously wrong. Even when, at six months old, Calum was hospitalised with pneumonia we didn't think it was anything other than a temporary blip. In hindsight we were incredibly naive - but what does anyone know with their first child?

An x-ray showed an enlarged heart and, even then, we didn't think anything other than "So he shouldn't play rough sports? Guess he'll just have to be geeky like his dad!" Unknown to us though, alarm bells were beginning to ring at the hospital and blood tests were taken "Just routine, nothing to be concerned about..." And we weren't concerned. We found a house (next to a park - and a school - perfect!) and started fixing it up prior to moving in.

Then we got the news that brought our world crashing down around our ears. On a follow-up hospital visit we were told that the blood tests showed Calum had something called Pompe disease which was a type of glycogen storage disease. It was untreatable and fatal; children with this disease did not usually live beyond their first birthday.

We just couldn't believe it. We thought that there must have been some terrible mistake. Our beautiful child, the light of our lives, going to die? How could such a thing be possible? And whoever heard of an untreatable disease in this day and age - those doctors really needed to keep up with what was happening in the world of medicine!

For the next two we weeks we frantically found out everything we could about Pompe disease and what little information there was available was not good. Everything confirmed what the hospital had told us; there was no hope. None. While we were still in shock, Calum declined quite rapidly and he went back into hospital. He died at the Sick Children's Hospital in Edinburgh, on 18 November 1993, just two weeks after we were given the diagnosis.

We used the Buddhist proverb from the beginning of this article as his epitaph. We both think of him every day and will always mourn the life that was lost. But we will always be grateful for the life that we had.


The hospital hadn't been able to help us with a treatment however they did one thing for us that was very helpful, both then and in the years ahead, and which was life-changing. They passed us details of two patient groups that helped families in our position. One was the Research Trust for Metabolic Diseases in Children (now known as Climb ), an umberella group for metabolic diseases, and the other was the Association for Glycogen Storage Disease UK, which dealt specifically with the glycogen storage diseases. Both organisations founded by remarkable women who responded to the illness of their own children by creating organisations that helped others. We will be forever indebted to Lesley Greene (Climb), Ann Philips (AGSD-UK) and the families they put us in touch with, for helping us through the darkest time of our lives. More of them later.

Following Calum's death we wanted to raise some funds for research into Pompe disease and I also had the idea that, as there was so little information available on Pompe disease, I would use my scientific background to write something aimed at parents. I felt that this was important because we had been desperate to understand what was happening to Calum and as I had watched Elaine (a bright person without a science background) struggle with concepts like genes, enzymes and lysosomes it was brought home to me what a privilege it is to be a scientist. It now gave me the opportunity to make a contribution that others were not in a position to make. I had thought that I would pull together what information there was and write up something for the AGSD. A sort of 'thank you' that would also be of a help to any future parents in our position. I didn't really see that there would be much that could be done beyond that.

The librarian at my work, Lynda, pulled a few strings to get me into the medical library at Edinbugh University and so I started carrying out a literature search on Pompe disease, helped by my cousin Aidan, who was a med student at the time. It was just the kind of mind-numbing, time-consuming task that I needed. In the far off days of 1993, younger readers may be surprised to learn, this was all done as a paper chase - looking up entries in publications like the citation index, then walking to shelves of actual hard-copy journals to look up the articles and see if they were of any interest. And if they were useful, you wrote the reference (by hand) on an index card and put it in a little desk file. Describing this to anyone under the age of 30 elicits a response that can only be compared with the old 'For mash get smash!' advert. But I digress.

And then something astonishing happened. Right then, in that library, amongst those dusty shelves of journals, I felt the sun come out. Because there, in my hands, was a paper that showed that Pompe disease was not the hopeless case that I had thought. A team of people in The Netherlands had been carrying out some ground-breaking research. They had worked out how Pompe disease could be treated and had designed some ingenious experiments to show that their idea could work.

I realised that I would be able to do more than just write an article for other parents to help them understand how their child was dying. I could write something explaining how this disease could be beaten. This was no longer a hopeless cause - it was a cause that could and must be won.

And the first step was to try to explain to other people just why what this Dutch group had done was so important. Which is something that I am going to do again in the next article.

1 comment:

  1. Kevin, your story sounds so familiar to me, except for that my wife and I faced the very same circumstances almost 10 years later, with ERT on the verge of being commercially availabe, and, because of that, my son Lucas is now alive, in extremely difficult conditions, but alive... and with lots of spirit. I believe that Calum has certainly played a role to explain his current survival, as, no doubt, you have acted as a catalyst of the difficult process of arriving to a treatment, which is not perfect, but which is far beyond much better than what was available when Calum was born. Most people live long and comfortable lives, frequently focused only into their own affairs, and when they die, they are doomed to be forgoten by all, as the years pass by. Calum life was very short, but it meant a big difference for many kids (and adults) that have suffered his disease afterwards. In two or three hundred years from now, when Pompe disease will just be a bad dream of the past, and when most of us will be gone and forgotten for a long time, a scienticist with an interest in the history of metabolic diseases will end up reading the real story of Pompe disease that you are writing up right now, and he will learn that there was a little fellow called Calum O'donell who had a very significant effect on the fight against this disease.