December conference postscript

A few loose threads crystallised for me at the Bethesda conference. Firstly, Alf Slonim gave a talk where he descrined a new sub-type of patient - onset of the disease in early infancy but without heart involvement.  I remembered Rick Garrett telling me something about this at the Oxford conference he and his wife mary's son, Luke, was one of that sub-type. Rick had told me about someone called John Crowley who also had two children in that position. I remembered that when I was introduced to John at the Bethesda conference by, I think, Alf Slonim.

My heart went out to him. I thought he looked punch drunk, understandably enough.  I remember him saying that he had been to a good school and had influential friends and would do his best to get them to help. Normally, this is the sort of talk that makes me want to slap someone about the head with a wet fish. However, I recognised John as a fellow member of a different sort of exclusive club - the Pompe parent club that no-one wanted to join but that we had been forced to. That counts for a lot with me.

I knew he had started up a new group called the Children's Pompe Foundation. My first reaction had been that this was a People's Front of Judea (warning: some swearing in that linked video)



 In other words, an unnecessary diversion from the goal of ERT and a united patient community (the US seems prone to this kind of thing, for some reason). I was conscious though that the children in this  newly described non-classical infantile 'sub-type' were not part of the initial clinical trial. Although it was absolutely logical (necessary, in fact) that this was the case, I knew that it was easier for me to accept. My child was gone; theirs needed help now.

I felt less forgiving though, when I read The Cure and found out that the Children's Pompe Foundation was actually a Potemkin village - a fake. John had realised that patient groups carried some weight, so he had simply invented one on the spur if the moment.

The reason patient groups carry weight is because they are the sum total of the collective hard work of the people who belong to them. Inventing one in an attempt to change the clinical trial criteria to help your own children might be, on a human level, understandable but is undoubtedly wrong. This is not just an instinctive British aversion to queue-jumpers on my part. Had the first clinical trials been changed to include a subset of children who would not have given clear results, the whole future of ERT might have been in jeopardy. It would not have been a victimless crime. 

The Children's Pompe Foundation played no part whatsoever in the international patient community and soon disappeared as quickly as it had arrived. John Crowley however was to reappear in another guise.