A very, very long day...

We had our long anticipated appointment with the neuromuscular team at The Hammersmith Hospital yesterday. It was a very long day and left us all absolutely shattered. We left at 8, had a heinious public transport journey with 4 changes and got to the hospital just past 11. We were there until 4.30! No breaks 4 hours of physio, doctors and an ECG. Then we had the long, and much slower in rush hour, journey home. We finally got back at 7.

It was a strange clinic. Very old school. He had a physio assessment and she was very strict with him. I could see what she was trying to do to get him to bend his feet up etc but he didn't really understand her. He had lots of tears yesterday when physios and doctors were trying to straighten his feet and it really hurt him. After physio, I had to find a space to do his IVs. I had a message waiting on my phone to say he was even more neutropenic now so I wasn't overly comfortable that I had dragged him across London on public transport and into a hospital. The clinic is monthly though and we would have waited ages for another slot. The doctors consultation was very strange and frustrating. The reg came and went through all the history - and it is a long and complicated one! That was fine. I am getting bored of going through all this but it is important. Then, the consultant came in and she presented William to him. If he had been in from the start it would have saved about 20 minutes of history repetition! Another consultant came in so there was a neuromuscular guy and a mitochondrial disease specialist. They pretty much talked among themselves and then examined him, still talking among themselves in a language I had no comprehension of. They poked and prodded and stretched, making exclamations such as "oh yes, there is definately some xxxx here and yyyy there" They took loads of pictures of all his features such as his feet, wide set eyes, funny hair etc and added a few more features that they felt to be significant, such as sparse eyebrows and translucent skin. They did comment on how tiny he is too.
After all of that, they pulled their chairs around at the opposite end of the room and had a discussion about him. I was just an observer and hardly understood a word.

They did tell me that they need to do more tests. He doesn't have a muscular disease, in their opinion. He is too strong, all be it in short bursts, but he does have strength. They feel it is not peripheral but a central problem. They have some more wierd and wonderful ideas of very rare syndromes (some to do with glycogen storage, some mitochondrial) to rule out before they just conclude that William has a "unique phenotype and genotype". Like the geneticists, they pointed out how unique he looks and how it is clearly a genetic problem but that it does suit him and he is a lovely looking child. He is very different to the rest of us, as you can see in the picure, and has a very distinctive look. They also commented that Wills now has spacticity, particularly in his legs, this is a new development as they were not too tight until recently. He feet can no longer be manipulated back into 90 degrees.

I will look forward to the letter with the hope I can understand something from that.