I have just been getting Emily's presents ready for tomorow as it's her first birthday! While I am exicited for her birthday like any mummy would be I am also feeling rather sad and emotional for some reason and can't help thinking it should be push along toys and dolls we should be wrapping up and not sensory toys that she can hold and touch etc! That said I know there are so many other families that have it so much worse than us but I think sometimes you need to feel sorry for yourself and have a cry. I think I may explode if I didn't! I also know that people say oh but she is so happy and just be happy for that ect which is fine but until you are in the shoes of a SEN parent you can't really comment and fully understand especially when it's a child like Emily that is undiagnosed and you just don't know what the future holds or even if there is a future long term. My mood was not helped by the fact that I went to set up her bubble tube so it was all working when we got up and it's broken. It was fine when we got it as checked before putting it away. Too much time has gone now to send it back so stuck with a broken tube and Emily does not have a main present. She won't understand but I know!
Tomorow Emily will open her presents ect but not much else. Saturday we have been invited to spend the day at Bluebells which is run by Sebastian's Action Trust and is a house that offers respite care and day visits for children with life limiting conditions. Then on Sunday we have our nieces coming over for a little tea party. Although she doesn't understand which would be the same for any one year old child we will make it special and take lots of memories!
Emily is continuing to do well in herself. She is still at the stage of almost sitting but just isn't there just yet. She does however sit up in her rocking chair as she has the lap strap to give her the small support that she needs. This is brilliant however because she is so flexible you need eyes in the back of your head as she over leans and ends up folded in two and unable to sit back up.
Last week Emily had a sleep study as she holds her breath when asleep and normally then coughs and cries. Apart from the monitor going crazy up and down at times the night went without any hick ups. I am yet to get the results but spoke to Emily's consultants secretary this morning and they have the results and believes that as we havnt heard anything all has come back ok. Due to our track record with hospitals and things not being done ect I have emailed the consultant direct for feedback and also to see whether they have the results back from the GFAP gene test which will tell us whether Emily has or does not have Alexanders Disease! Fingers crossed it's the latter.
We did receive a copy of the letter that was sent to our local consultant from our neuro consultant when we met with her in April. She explained that she is delighted with Emily's progress since seeing her in December. The myelin has progressed and now is at the stage of a 11 to 14 months child. However there does remain extensive bilateral signal abnormality within the cerebral white matter. She also explained that the condition megaloencephalic leukoencephalopathy with subcortical cysts (essentially a white matter problem with cysts) but as there is no cysts on the repeat scan it makes the condition less likely. There is also the possibility of Alexanders disease which Emily's does not particularly fit the condition clinically it's still important she is tested for the disease which is the GFAP gene test we are waiting on at the moment. The radiologist also suggested white matter vanishing disease but again Emily does not clinically match the symptons of this but a repeat scan with determine this when she is two years old. The consultant is happy to not see us for another six months she has referred Emily to her Genetic colleagues for their thoughts on her condition and she also thinks that Emily maybe a candidate for the deciphering developmental disorders study. All in all it was a positive letter. I am sure other parents will agree it's very useful getting the letters which review the appointments as there is so much said and explain you do forget things!
As mentioned in my past blog Emily has also been referred to speach and language therapy as she was not coping with lumps at all well. The waiting list to see someone is currently 24 weeks I was told and in the meantime Emily has started tolerating lumps really well as long as they are suckable and the food it watery and not stodgy. She is however having trouble drinking fluids that isn't milk. It's almost like she can't swallow it as it's too runny. I have spent a small fortune in cups and beakers and even just given it to her in her bottle but they all have the same outcome and that's one very wet bib and little lady. I will mention this to SALT if it's still a problem when we finally get to see them.
Emily now has a tumbleform seat on loan from a very lovely lady (she knows who she is). She absolutely loves it and will sit happily playing for ages while
Mummy does her jobs around the house. The only problem is her big sister loves watching tv in it also!
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