I remember going through my diary over and over again to see if there was something I could have done differently while pregnant – to stop this happening to my child. I didn’t even take a paracetamol during pregnancy just in case. Warburg Micro Syndrome (WMS) is a genetic condition – you didn’t do a thing wrong – it is just one of those things.
If you and your partner are carriers of a WMS gene you have a 1 in 4 chance of having a child with WMS. There is testing available if you want another child but this can only ever test for the few existing mutations they have already found – your genetics counsellor will be able to discuss this with you AND our parents have also got some experience of this so please – just ask.
The genes associated with WMS so far are RAB3GAP1, RAB3GAP2 and RAB18 – new genes will be identified in the future and new mutations within these genes are being found all the time but it can be a painstakingly SLOW process. For example, our daughter was given a tentative WMS diagnosis in 2004 – our mutation not being found and confirmed until 2010. Another family had their diagnosis confirmed when their child was in their teens and another in their 20s ….
I guess the analogy of a ‘needle in a haystack’ could be used but on a microscopic level?
As this condition is so rare, chances are you will have been asked if you and your partner are related at your genetics appointment and when you said no you will probably have been asked a second time !? This is obviously a shock not to mention upsetting but I guess they have to ask.
At the moment the majority of the 100 or so WMS confirmed cases, around the world, are clusters of children born to parents who, mainly for cultural reasons, have married within their own families.
Without these clusters WMS might never have been discovered and we all might still be around the world with no ‘label’ for our child’s condition.