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 

Emily has a better social life than mummy!

Back at the beginning of the year our portage worker mentioned a special needs mother and baby group called TreeTops, as all this was new to me I had never heard of it but thought we would pop in and give it a go as up until this point we were attending mainstream groups and it was becoming clear how different Emily was to other babies her age and although other mummies and carers didn't say anything outright you would catch them staring and you knew they were thinking 'why is she just laying there and not rolling, sitting ect'. Also I don't pity Emily and don't want anyone else doing the same as she is such a happy little girl (I would go as far as saying happier than 95% of all babies) and is continuing to improve daily.

We went along for the first time and I can honestly say I have never looked back. We both loved it. It's very laid back and the workers are all lovely beyond words and you come away feeling refreshed and positive. Mummies have coffee and the babies play on the mats and the bigger ones explore and play. They also have a lovely Sensory room which Emily loves (mummy does too).  The premises is a respite care home being divided into two sections almost. One side is overnight respite for kids that have very complex health needs and the other section is for delayed learning children. Again I never knew anything like this existed and although at the moment I can't imagine ever sending Emily for a night of respite I can understand why some parents choose to do this.

At one of our coffee mornings we were lucky enough to meet Charlie Porter who is the founder of a children's charity called Muffins Dream Foundation. Charlie has had more than her share of health issues from birth and bravely overcome these and you may say made her into the person she is today. 

Muffins Dream Foundation was set up to help disabled 0-25 year olds in Basingstoke and Hampshire not to mention the siblings and other family members. They offer a wide range of services from activity days, hospital visits, providing boredom buster bags for any of the children or young adults that maybe in hospital for any length of time and baby sitting to name a few. 

To date we have attended a messy play afternoon, Easter egg hunt and also the most recent being a gymnastics morning which was such a hit for Emily's big sister. One of the great things about Muffins Dream Foundation is that they include siblings which having a older daughter I think it's so important that siblings are not left out. This has always been a worry for me and my husband but so far I think we are doing a good job! 

Muffins Dream Foundation also have a number of other volunteers who help in any way they can and again they do a brilliant job and you can see that each and every one of them are as dedicated as the next. 

Each child that is registered with them is then referred to as one of the Muffins which again is a nice touch! 

It is Charlie's dream to eventually open Muffin House Hospital which is a luxury hospital who will provide care for children and young adults that have to spend a great deal of time in hospital, they would provide a high level of medical care and also a few extras that would make the individuals stay that bit more comfortable. 

Muffins Dream Foundation are always looking to recruit new Muffins and there siblings. Please look at there website which provides more details of services they offer, a registration form if you would like to enrol your own littke muffin and also please read the page about Charlie herself. I have only read it this evening and all I can say is WOW! If anyone can give you confidence that others are not always right it's Charlie. She has overcome so so much to be where she is today, against all odds and is a true inspiration.

As mentioned earlier we have attended a messy play afternoon which both Emily and her older sister loved. Emily relaxed in the sensory corner while her sister done all manor of messy things I would never let her do at home. Well not my home anyway haha. Emily even joined her sister in some shaving foam fun. 

We then attended the Easter Egg event which again was a brilliant day . This event was open to the public and it was a great turnout with almost eighty children in attendance. Obviously Emily couldn't take part in the actual hunt but her sister done her proud. Emily was more interested in the two Muffin Mascots. These being Fireman Sam and a Minion. Every child was given an Easter egg or in Emily's case a little chick to take home along with biscuits they has iced and eggs they had painted. 

The last even we attended was the gymnastics event. Again there was a high demand for this and by attending I can certainly see why. Emily was lucky enough to have a baby coach almost to herself. It was a lovely coincidence as the baby coach also tought my older daughter when she used to do gymnastics a couple of years ago so it was nice to have a chat ect.

Emily was able to try a number of new things such as sitting and being turned in an almost shell kind of seat (I am sure they have a proper name), being gently rocked in a blanket , tummy time on a wavy mat which she really liked (she hates tummy time), sliding down the slide on blankets and also managed to fit in some time on the giant trampoline. Emily didn't manage an hour and half but spent the last half an hour watching her sister jump into the foam pit and do all manor of daredevil stuff. It was lovely to just stand back and watch all of the children, all different disibilities having great fun. Roll on next month when the next gymnastics event is being held! 

You can read more about Muffins Dream Foundation on there website

Www.muffinsdreamfoundation.co.uk

Also they have a Facebook page which I am sure you are more welcome to join

Www.facebook.com/muffinsdreamfoundation 

Also as with all charities they rely on donations so they can carry on and in this case provide such a worthwhile and excellant service. If you want to donate to such a worthy cause you can do so by donating on the website or contacting Charlie via email or directly on the Facebook page.

Also if you have not yet joined my Facebook page please do so

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. 

Half term with Emily

As half term is almost over i thought i would post a few pics that have been taken of Emily during the two weeks break!

Spare of the moment trip with the family to the local petting farm. A good time had by all!

To add to Emily's list of firsts, she tried ice cream. To say she liked it was an understatement. She went as far as taking it out her nannys hand when she was offered a little lick. She wasn't too happy when it was taken away but in true Emily style her nanny was quickly foregiven.

Emily has more or less grown out of both her baby bouncers and I wasn't really sure what to do. Not only does she love sitting and chilling in them they are also used to feed her as she can't be sat up too much or else nothing stays in her mouth . After doing some research and asking some special needs mummies it was down to this bouncer and the proper special needs bouncer. Unfortunately the special needs bouncer comes with the normal special needs price tag and although I could stretch to one I would really need two as we are at Emily's nannys a lot as well as at home. Fortunately for us one of our friends had two which she didn't need anymore, Problem solved !

Emily really loves her new bouncer and has even taken one or two naps in there. She does fall to the side after five minutes but she still looks comfortable and it does not bother her.  She is also sat up more which she really enjoys. I really reccomend this bouncer, and on a plus side she should fit in it until around 4 years of age .

Emily has almost nearly grown out of her newborn car seat, not to mention my poor back! Again I researched and asked various people about what seat I should go with. After narrowing it down to two we went to halfords and tried her in the Maxi Cosi Axiss. She looked really supported and she seemed to like sitting in it. After going away and thinking about it we decided to purchase it. Emily loved the seat but upon actually using it we noticed that her head isn't as supported as we would like. I am the process of looking at what's available to buy to help in supporting her head. It would be fine if she didn't move but as she is a nosy baby she likes to look around and this is when her head starts to flop. A fried has suggested putting some toys over the door on the hanger to try and keep her from moving about. This is a great idea and something I will be putting into action in the next couple of days.

Also the added bonus in this is that the car seat swivels which is ideal as Emily needs a fair bit if support while being lifted in and out of the car and tends to fall forward when strapping her in. 

Up until now I have been using a finger toothbrush for Emily but as she is now on more solids I decided to get her some baby toothpaste and baby brush to try. She wasn't too sure at first and pulled some brilliant faces but once she got used to it she loved it and was smiling and babbling away.

A Emily day would not be complete with cuddles from just about anyone! And when I say cuddles I mean lots.

We were lucky enough to be invited to two Easter egg hunts this year. The first being held by Bluebells (i will do a post dedicated to this once we have been and spent a day there which is happening in may) and the second being held by The Muffins Dream Foundation. We had a brilliant time at both and was enjoyed by both Emily and we big sister Mairead.

http://www.muffinsdreamfoundation.co.uk

http://www.sebastiansactiontrust.org/holidays/the_holiday_house.php

All in all it's been a busy two weeks but very enjoyable.