Where has the time gone?

Firstly I am sorry that I have been completely useless at updating my blog for the past few weeks. I have however been adding a few photos and statuses here and there on Emily's Facebook page, called Emily's journey of the unknown.

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!

Again if you want to keep up with Emily's progress please like our Facebook page 

Www.facebook.com/introtoemily 

The long awaited MRI results!!

Today was the day we have been waiting for since Emily passed her last set if tests taken in December.

After having a MRI and MRS scan on 3 April, today we had an appointment with Emily's neuro consultant in Southampton. After a few calls to check that the results had come back it was uncertain whether we would find out anything today. I must admit part if me didn't want to know what was going on in little Emily's head as I was frightened of hearing something horrible.

As soon as I woke up this morning my stomach dropped at the thought if what laid ahead today. Good thing about having two kids, well three if you count my husband is that you have to get up and get going, you just don't have the choice!  Apart from being sick while hubby was having a shower I was fine. Luckily since I was pregnant with Emily he is used to it so took no notice of me barging in. 

The journey there was pretty quick without any drama and Emily was in really good spirits (she always is to be fair). 

Southampton hospital is like no other hospital I have ever come across. It is almost like a shopping mall when you first go in with various shops etc. I think it's a good thing, kind of puts you at ease slightly as it's not all long corridors that smell of illness and disinfectant. 

Our consultant was running late but it was a good thing as Emily was due a bottle so had time to give it to her without rushing. 

We were then called in. There was me, hubby, mum and sister in law. Rather a lot but I didn't know what the results were going to be so would rather the support and the consultant didn't seem to mind. 

As predicted the consultant was very pleased with Emily's progress since we last saw her in December. Thankfully Emily played up to her by waving, clapping and babbling as she is normally so quiet with people she does not know. She must have known that we needed to show the real Emily! 

The consultant went on to get the scans up on the computer and explained that the recent scan shows some progress in regards to the myelin in her head.  The myelin is the fatty substance that insulates and protects nerves in her head. Although the scan was and still is worrying this is a very good thing. At this point my nerves started to relax slightly.

The radiologist has suggested two conditions that could result in a scan similar to Emily's. These conditions are Alexander's Disease and White Matter Vanishing Disease. Although these have been suggested by the radiologist our consultant isn't so sure from her clinical point of view as Emily's symptons do not correspond to the symptons of either of the two conditions. In fact the symptons seem the opposite to the symptoms that Emily is showing. To have these conditions you will typically have stiff limbs, be iratable, sickly to name a few and Emily is far from stiff, happy 99% of the time and apart from the odd upset tummy and cold she is thriving. Due to the conditions though she cannot rule them out as sometime symptoms can be slightly different to text book stuff. In order to test for these they have taken some of the GFAP (glial fibrillary acidic protein) DNA which was previously taken at our local hospital and sent off to London to be tested. We hope that this will take around six weeks. If positive I will get a call and if negative they will write to me. Fingers crossed I shall get a letter! Upon coming home and reading up about both conditions I am obviously worried as they are both life limiting conditions which are progressive and at the moment there is no cure or treatment however, I believe that they are working on a treatment for Alexanders disease. 

The consultant wants Emily to have another MRI scan when she reaches two years of age as by this time her brain should have matured and no longer be wet. Obviously if it comes back positive for either of the two conditions above things will change. In the meantime Emily is being referred for Genetics councilling, a speach and language therapist and also to have a sleep study (hopefully at home) as she is holding her breath and choking when starting to breath again. 

All in all we are very pleased with the appointment as was the consultant, who apologied for being so negative when we first met with her in December. Her words were Emily has gone and proved her wrong again! She was much more optimistic today although stumped at what is wrong with Emily.  In the meantime she remains our little undiagnosed princess!

We have an appointment to see our local consultant on Monday, which I will blog about at some point next week. 

I have wrote this blog from memory so please forgive me if I have missed bits out but will update with a post once I receive a letter which confirms the appointment today. Although I think I took most of the conversations in I know I would have forgotten bits.