Moving in on a diagnosis

Well, today has been quite a day. We had eye clinic in the morning and a general review of all that has been happening with William's local paediatrician in the afternoon. Let's start with the good news - William does not need oxygen over night - hooray!!! His baseline saturation is above 93 (just) so that is OK for him. The desaturations will not be corrected by oxygen as he thinks this is due to reflux again as the Nissens can become loose. If this is so, Wills will need a repeat op. If it is sleep apnea, the oxygen will not help as he won't be breathing it in anyway so he would need a bi-pap machine for that. So, we will be off the The Brompton for another sleep study and Ph study to see what is going on.

William had his eye tests this morning and he is very long sighted so needs glasses. He also has a slight squint that may be due to one eye being worse than the other so may well be corrected by the glasses, otherwise, he will need a patch over the stronger eye. We had a short gap between the eye tests and consultant appointment where I was hoping to have a walk about town and spot of lunch. Instead, we were measuring up for William's glasses. With the eyesight he has, I was fearing "NHS jam jars" but they are actually pretty cute blue circular ones. The optician did comment about his wide nasal bridge and low ears as a slight issue for the frames but these are baby ones and pretty flexible. We get them in about a week so I will post a picture of our little studious looking boy. We really had no idea that he had vision problems and would never have picked it up if they had nbot been looking for more clues for his syndrome. Visual problems do fit the kind of syndrome they are now looking at.

So, after a sprint into town and back and grabbing a quick sandwich, we were back at the hospital to see our consultant. His role in all this is to put everything together and come up with a global descrition if not a definitive diagnosis. He watched William walk and looked at his feet and explained that there is a neurological problem there. His gastroenterologist is thinking more and more his gut problems are also neurological. So, putting it all together, we finally have a working diagnosis of "neural cell (or crest) migration disorder". I had to ask him to repeat his description of this several times as it was all a bit technical. Apparently, when the nervous system develops in the womb, neural cells have to migrate throughout the body to form the full system of nerves in order to make all the connections needed. When Wiliam's nervous system was developing, there was a "traffic jam" somewhere and some of the neural cells never made it to their destination. His gut was one area, his feet another. As a result, messages from the brain for normal functioning can not be sent. It was explained to me that this damage has been done so nothing can be done now to correct it. We will have to watch and wait to see where else may be effected and it is likely he will have some educational limitations. We still need to find out what has caused this, it could be a genetic syndrome but we may never know. His prognosis remains "guarded" and remains "life limited". The big difference for us now is that he does seem to have a condition that effects him medically, phsically and mentally. We will now have to take it as it comes and make sure we do all we can to help him realise his potential. Wills is having some blood tests and an MRI scan just to make sure it is not defecits in his TPN nutrients that are causing lack of growth in the cerebellum but this is just to rule it out as some of his problems, including his gut of course, started before he went onto TPN.

The consultant agreed that William does need piedro boots and, perhaps, splints, so the physio is coming on Thursday. He doesn't think physio will actually help his feet and walking as you can't correct things as no neural path developed. I am not so sure though as I know that the brain can learn to compensate and create new pathways around damage. I know we will not be able to help William to do this in automatic things, such as controllin his intestines and how his feet are growing, but we may be able to help him learn to walk with more control and balance.