1994 continued

I'm really going through my big folder of emails, faxes, scribbled notes of phone calls etc. and trying to unpick what actually happened, so this narrative might seem a bit disjointed. Hopefully, others will now chip in with their own recollections to help fill in the gaps (hint).

For me personally, the big thing that happened with regard to this story was that I started building the Pompe Group in the AGSD-UK. There are several letters from people I met at the Newcastle conference, giving information, other contacts to follow up and so on. Email was not really widespread at this time, so most contact was by letter.

The main things I have are:

I persuaded the AGSD-UK to set up a Scientific Advisory Board, onto which Arnold Reuser and Ans van der Ploeg were invited, amongst others. This helped to provide some professional ballast for the AGSD-UK, while increasing its profile amongst medical and scientific professionals. You know, I still think that was a good move. Well done me;-)

The second thing was that the AGSD-UK set up a specific Pompe fund. This was to become a focus for fund-raising by the Pompe families (and still is).

The creation of the SAB was followed up by inviting Dr Ans van der Ploeg to speak at the next AGSD conference, to be held in Birmingham in May 1995. This invitation was in September 1994, so 8 months in advance. I'm flagging that up for a reason, so pay attention.

There was so much happening that I started a Pompe-specific newsletter - The Pompe's Bulletin - to use a a tool to keep people in touch and to spread the word. Initially 4 sides of A4 text, it has since become a high-quality, professional production. Of course, that only happened once I stopped having anything to do with it. You may see the start of a recurring theme here. Having said that, those newsletters, alongside the US equivalent produced by the AMDA (about to enter our story) are a pretty good historical record of events.

However, I can't let the round-up of 1994 pass without mention of the fact that we knew we were going to have another child and that our child would not have Pompe disease. chorionic villus sampling (CVS) is a technique that allows a sample of placenta to be tested for the presence of (in our case) alpha glucosidase. We had the test at 11 weeks. Not a great experience because you see the foetus on the screen, just like a normal ultrasound. We were trying not to look because, after all, we might have had to terminate the pregnancy. We knew that the sample was to be sent to Manchester and the test carried out there and were told to expect a result in a week or so. The hospital phoned the next day to give us the all clear. They must have had a courier waiting right there and then to take that sample to Manchester, where someone was waiting to - right there and then - start work on it.

The staff at the hospital were wonderful with us - though I don't think I've met anyone employed by the National Health Service who treats it as 'just a job'. They did everything they could to make things as easy for us as possible and treated us with great kindness. Hopefully we were able to show our gratitude at the time. However, there were a lot of people in that chain from Edinburgh to Manchester and back, who did well by us, and who we'll never know. People who are doing the same thing day in, day out for others. Our thanks to all of them from the very bottom of our hearts.

Euan was born in January 1995. The knowledge that we were having a healthy child made the last part of 1994 a very happy time for us.

So, the UK Pompe group was beginning to stir in 1994. This was only the start - the next year would see the start of an international network.

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

My first AGSD-UK conference

When Calum was diagnosed, one of the few things the hospital could do for us, was to give us a leaflet for an organisation called the Association for Glycogen Storage Disease (UK) (and also for the Research Trust for Metabolic Diseases in Children, now Climb) .

We called Ann Philips, the President, and she put us in touch with other families who had had a baby with Pompe's. It was an enormous comfort to speak to them - other people who understood what it was like to have lost a child to this rare disease. So we decided to go to their annual conference, which was being held in Newcastle on 29 May, 1994.

The organisers, Henry and Janet, couldn't have been kinder to us and they - and Ann - made us feel very welcome. Most of the conference dealt with the other types of glycogen storage disease - reasonably enough, as that reflected the membership. However, at some point, the Pompe families met together. I don't have a note of everyone who was there, however it certainly included the Harringtons (who had also lost a child to Pompe's and became good friends of ours) the Critchleys and Allan and Barbara Muir. Allan is the current UK Pompe supremo and (I'm jumping the narrative gun a bit here) has made a much better job of it than I ever did. If you are doing a job that really matters to you, then I can wish you no greater blessing than to have a successor who does it better. It's certainly been a source of great happiness for me - cheers, Allan!

But I digress. At that small gathering I spoke about the ERT research and we gave ourselves a target to raise funds to help it. I also found myself on the executive of the AGSD, representing the Pompe group.

Without really thinking about it, I'd made a decision that whatever efforts I made regarding Pompe disease, it would be as part of this group. In retrospect absolutely the right decision (how I wish they were all like that). The alternative was to start a new group specifically focused on Pompe disease. However being part of a larger group brought the advantages of critical mass (for example, tagging on to a group big enough to organise a proper conference) and opened me up to the constructive criticism of others. Both important things.

Of course, I didn't realise then quite how much of my life this was going to take up for the next 10 years or so... It is not an exaggeration to say that this was a meeting that changed my life.

The very next month, I was to have another important meeting.

Tidying up before the next phase

Before I get into the story of the patient community and its involvement in the development of ERT, there are a few loose ends to tidy up.

Back in 1993, there were three groups looking at ERT. Arnold Reuser's in Rotterdam (of which more soon), Y T Chen's at Duke and Frank Martiniuk's in New York.

Frank Martiniuk had some interesting work and always gave me the impression of someone who was prepared to push things forward. For some reason (luck, politics, who knows) his group was not one of those that eventually participated in trials of ERT. I met him briefly - just to shake his hand really - at a Pompe conference some years later. However I'd like to thank him, not only for his efforts at pushing forward research into what was then a deeply unfashionable field, but also for an act of generosity that was much appreciated by me at the time.

Following my trawl through the literature, as described earlier, I wrote to him and asked him how his work was going. I didn't get an immediate reply, however I did receive in the post a large bundle of papers related to his work. It must have cost a fortune to post from the USA, never mind the time and trouble it took to put it together for me. I read it all avidly and still have it. Thanks, Frank.