Thursday, 22 May 2014

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 

Wednesday, 7 May 2014

Emily's new Trolly Dolly

Emily's highlight of every week is doing the weekly shop with mummy and nanny. She absolutely loves it from start to finish. Laughing and looking at all the lights and not forgetting the attention she gets from all the passing elderly men and women. 

Up until the last few weeks she would lay in the newborn seat but as she is nearly 12 months old it was getting a little snug for her once the insert was in (our trollys are very hard so madam needs a cushion).

We were really stumped as to what we would do as there was no way Emily would be able to sit unaided in the seat part of any trolly and our local supermarket do not offer specially adapted trollys. My husband works long hours so it would mean late night shopping while he stayed at home and looked after the girls. It didn't seem fair as Emily loves shopping so much. 

On one of the special needs buy and sell sites I noticed a lady selling a trolly cover. Although this just covers the trolly a lady had posted a link underneath to a page on Facebook called Bags of Style. I messaged the lady who then pointed me in the direction of her trolly dolly section. 

I cannot explain how excited I was when I first see the trolly dollys and what they had to offer. Its basically a little jacket that velcros onto the child and then there is a piece of material which is attached that then velcros over the back of the trolly seat.  The next big decision was what material we should choose. After much deliberation we decided on mini mouse. We wanted something girly but not something that we would need to match that days outfit with. 

I emailed the friendly lady that runs Bags of Style with various measurements of Emily and also the fabric that we wanted (there are loads of fabrics on the Facebook page that you can choose from). I was then emailed an invoice which needed to be paid before the item could be made for obvious reasons. After a couple of weeks I was then tagged in a picture of the finished product. I was so so excited. Having a little one that isn't able to sit, crawl, walk etc is hard as I am sure other parents would be first the agree, so finding things like this that helps make the little ones life as normal as possible is brilliant. 

Fortunately the trolly dolly arrived on Friday morning which is the day I do the weekly shop.  

I literally opened the package in the car park of the supermarket and was so pleased with the look of it. Super cute and nice and girly! 

Emily wondered what we were doing to her when we put her in the trolly seat at first. Once we figured which piece of velcro goes where she loved it, kicking her legs wildly at the freedom of feeling them hanging and making the most of not being laid down as she had always been. 

As Emily has such low muscle tone it took a while to work out the best place to put the cushion but decided she was most supported when we put it directly behind her head. 

Off we went into the supermarket and Emily really loved the freedom it gave her, not to mention the extra attention it brought. Mummy wasn't so sure as I like to blend in and not stick out but that's a total different story for again. 

Unfortunately after about thirty minutes Emily grew tired and couldn't hold her head up anymore so we transferred her into the newborn seat to finish the last of the shop. That said I have every faith that each time she will grow a little stronger and be able to stay in the trolly dolly longer until we won't need the newborn seat anymore. 

For babies and tots with low muscle tone I cannot reccomend this product enough.  It's not that cheap to some people but to me it was worth every penny and I would not hesitate buying again if I needed to. It's great that its made to fit your child so providing you get the measurements correct it won't be too big or too small. 

Bags of Style come very reccomended from myself and I know that a number of other mummies would agree. They offer a number of bespoke products for children and adults with additional needs, the list is endless!

Visit Bags of Styles facebook page and I am sure you will find loads that would suit your little one I know I have a list of wants that's rapidly growing.  They also have competitions for some if there products to promote certain additional needs events.

There is also a phone app so you can use Bags of Style on the go!

Bags of Style Facebook page

Don't forget to also like my Facebook page which I will be adding random bits and pieces and also links to future posts on my blog

Wednesday, 30 April 2014

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

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

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

Thursday, 24 April 2014

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. 

Saturday, 19 April 2014

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.

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

Thursday, 17 April 2014

Busy busy busy

So this week has brought Emily's hospital appointment with her dietician who she last saw three months ago.

Emily has never been overly worried about milk and although she is pleased to see her bottle and happily drink it she would never really ask for it. We last saw the dietician three months ago when Emily was still solely on milk. We had to change the milk to follow on as she wasn't getting all the nutrients needed from the first stage formula she was drinking. We were also told to start introducing solids into her diet. To be honest I didn't really know where to start as my oldest is six and I couldnt remember back that far not to mention she was very advanced and more or less weaned herself.  We started of with some baby porridge in the mornings an hour or so after her first bottle. As long as it was a slightly liquid consistancy she was able to swallow it fine. Then after a few weeks we introduced lunch and so on. 

For weeks she was on just over an ice cube worth of good not caring whether she has it or not. Over the last six weeks the amount has increased to just under a jars worth. Unfortunately Emily much prefers jars to my own cooking! She is still unable to cope with any lumps of any kind and gags, normally resulting in bringing up the last couple of hours food. I researched and reached the conclusion that while not ideal, she can thrive on age 4 month purée for the foreseeable future. When speaking with the dietician, she confirmed that Emily has done very well to get this far and at the moment no lumps is fine although I need to encourage some finger food that do have texture, for example cooked carrot so that she can get a feel and hopefully learn to use the big set of teeth she has been blessed with so far. It is very likely that Emily will need to be referred to a speech and language therapist in the near future so that she can be tought how to use the feeding reflex. Poor little thing has so many health professionals involved at present we just look at it as the more the merrier!

As of today we have also dropped her 4.00pm bottle which she has not missed one bit! I did try and drop her last 11.30pm bottle a week or so ago but she had a couple of unsettled nights so went back to giving it to her again as I was unsure whether she still needed it.  I think half of the problem was me as she still sleeps in out room at night and I startle at any cries she makes as all of the consultants always seem surprised when I say that she hasn't had any seizures as of yet (touch wood) and still havnt ruled them out and have gone as far as telling me to keep her in out room incase she does have one. She is also a unsettled sleeper and likes to scare money and hold her breath or breath very rapidly and rugged. I have emailed both consultants a video of this as requested so we can discuss when we see them at the end of the month. Our Southampton consultant seemed a little troubled by this but we shall see what the outcome is! 

All in all a positive meeting with the dietician and fingers crossed Emily may start to tollerate lumps in the very near future. 

As you can see Emily is far from underweight 

We have also had physio this week. Again the physio was really pleased with Emily's progress. Unfortunately we received a letter a week or so ago to say that North Hampshire Hospital will no longer be serving Hampshire as it went out to re tender and the whole service is now being dealt with by Solent. This week was the last time we would see her and I have to say she will be really missed and I wasn't happy at the prospect of losing her as she has been so encouraging and helpful in making Emily as strong as she is today. 

As we are with Emily all of the time we don't necessary see how much she improves from week to week it month to month, whereas her physio comes out once a month to our home so she really sees the difference. This week she has said how much stronger she seems but most of all how she has come along mentally. In the last month we have tought Emily to say dada, mama more often and also she can now wave and the action I was most pleased about was that she can now clap. At first it was a very floppy hit and miss clap but as the last couple of weeks have passed she does it much more firmer and stretches out her fingers more. Because she has developed her motor skills more this month she hasn't developed so much with her sitting and rolling. That said the physio was more than happy with her.

Like most babies Emily has never liked to spend time on her tummy, she just lays and cries. Now she has no head lag one of the new exercises we have been given is to put one if the supports from her leckey squiggles seat under her armpits while she lays on her tummy so it raises her up higher making her work just that little bit harder on strengthening her core. Also more homework for us in the coming month is to practise sitting to standing making her put more weight onto her legs and also letting her stand up (with help) against a sofa or table with toys on to again strengthen her legs. 

This session worked out really well as it was the first time the physio saw Emily be really happy and babbling away as normally she is quieter and then grumpy when she is pulled and pushed about! 

I also mentioned about Emily's pushchair.  When I was pregnant we brought a Babystyle Oyster however once Emily come along and we realised her problems there was no way we could keep this as she just fell to the side and slouched down. We then brought a quinny buzz a the seat unit is more like a bucket seat so she couldn't fall to the side. Up until this last week we have used her car seat on the quinny base even on the walk to school however as she is nearly grown out of this we have started using the seat unit and it's not great. She really slouches in it still and her poor chin looks like it is stuck to her chest. As I don't drive and have to walk on the school run I mentioned this to our physio and she is going to speak to out Occupational Therapist in regards to getting her a special needs type pram. She wasn't sure of the best pram but thought it maybe something like the Swifty which I am yet to google and research.

As predicted it was horrible having to say bye to the physio as it will be the last time we see her. As all the ladies know the harder you try to not cry the worse it is. So I done the inevitable and cried. She had tears trying to hold back and went onto say it's so hard having to say bye to all her patients as she has watched them grow and improve in whatever area they have physio. The good news is she will still be working in the hospital and has asked that whenever we are in at appointments to try and find her do she can see us and see how Emily is progressing. She also went on to say that she is confident that Emily is close to be being able to sit and also confident that in the future Emily will walk. It won't be next week or next month but in years to come.  That's all I need to hear and spur me on and give me confidence that I am doing something right in helping Emily to improve.

As the takeover happens on 1 may I don't have another physio appointment until Solent get in contact. Until then we will keep up with our homework and cross outlet fingers that Emily keeps improving and doesn't have any set backs. 

Monday, 14 April 2014

Intro to Emily and our world

On 23 May 2013 Emily was born by emergency C Section due to Stage 3 meconium. As far as we were aware Emily was fine and healthy, spending just 48 hours in special care.  It was as the weeks wore on we noticed that her head was rather large, she had minimal grip, slept a lot (more than a normal newborn), she had no head control and was very floppy.  In the back on mind I knew something wasn't right but didn't really have anything to compare it with as our first born was very advanced and basically come out and looked around her.  

At Emily's six week check the doctor was very concerned that she wasn't reaching all the normal milestones and she admitted us to our local hospital there and then with suspected water on the brain and told us to be prepared to be transferred to Southampton General Hospital for surgery. When we arrived we filled out all of the normal forms and was sent straight for a Ultrasound on her head.  Fortunately this come back negative and were told that as my husband and myself have above average head circumferences that it was likely she was just taking after us.  We were discharged with a view of seeing the Consultant in three months and to keep an eye on her in the meantime. 

Things didn't really improve in the next three months when we saw the Consultant who then done another ultrasound which come back negative and also sent referrals for a MRI scan and also to Physiotherapy, Occupational Therapy, Dieticians, Opthalmology and Portage.

In October 2013 Emily had a MRI scan with local sedation. I was lucky enough to go into the scanning room with her as it was likely that she would wake with the noise.  Needless to say she did but drifted off again once they administered some more of the sedative.  The SAT machine then decided not to play ball and she had to be pulled out as all her vitals went down.  Once that was rectified and she went back in the radiologist come in and asked if she had every had any surgery or was there any possibility that she could have metal in her head.  At this point I was pretty emotional and stressed as you can imagine.  The nurse that come with us gave her head a brush down and once again she was put back into the scanner to finish of the scan.  It turned out she had a minute piece if metal in hair which we believe was transferred from the nurses hand when he stroked her to calm her when she woke when the scan was first started.

A few weeks later we were called back to see the Consultant who explained that the scan had come back 'abnormally worrying' however, the results did not correspond with any condition that they could put there finger on.  The scan was described asmultiple foci of subcortical white matter   They were now treating this as something rare and out if the ordinary we would need to be seen by a Neorology Consultant in Southampton.  At this appointment Emily was also diagnosed with muscle development delay and macrocephaly (big head).

Unfortunately at this point our referral was lost between hospitals, once this was rectified we received an appointment for the middle of December.

We turned up at the appointment and was scared to say the least although by this time Emily had started physio which we were carrying on at home on a daily basis and her head control had really improved with just a small amount if lag.

When we were called I was shocked to say the least at the age of the Consultant however, saying that she was very polite and professional.  Firstly she went through all the previous appointments and what we had discussed and then went onto checking Emily over to see what she could and couldn't do.  It was at this point that she was diagnosed with being very hypermobile, being able to almost turn her ankles 360 degrees. Once Emily was dressed and we sat back down the Consultant went onto  talk about the previous MRI scan. This was the point where I felt I had just been punched in the face and my world had ended.  The Consultant spoke about a possible condition she believed Emily May have.  She wouldn't tell me the name of the condition as she said that you will research it at home and there isn't a need to do this until she had been diagnosed.  If Emily had this condition we would be looking at a life expectancy of approx 2 to 3 years. In order to test for this we would need to test for urinary organic acids, white cell enzymes, CK, lactate, plasma amino acids and urate.  Taking bloods was not an issue as she sat on my lap as good as gold while the nurse done this however, the urine sample was another story.  They gave us a little bag that goes over her lady bits and then you can put a nappy on as normal.  Three hours it took to get a sample!
The first somehow leaking out by the time we managed to get her nappy off.  These were the hardest and longest three hours of my life to date.  I just sat there and cried with random people taking pity and passing me tissues.  My mum that day was a rock as it must have been so hard for her too, I will never forget it.

The Consultant also mentioned that all of the conditions they were now looking at were potentially very severe and possibly life threatening. The above condition would be the worst case, she also said that she may have a condition that is so rare they never find out what it is, that she may develop and then go backwards or she may just develop to a certain point and then just stop.

Due to the date of the appointment we had to go through the whole of christmas not knowing whether Emily may or may not be with us to celebrate the next Christmases. Words cannot describe the feeling in your stomach day and night of pure dread. Throughout this time Emily was continuing to improve in baby steps and was getting stronger.  Also those that know Emily will tell you, she is extremely happy and very very rarely cries which is brilliant so you know she isn't in any pain although I believe that she has a higher pain threshold than most babies.

Although I didn't have an appointment to see the Consultant until April 2014 she kept in contact every few weeks by telephone to catch up on Emily's progress and touch base in regards to the test results.

Christmas passed and I had come to accept that what will be will be and whatever happened she was still my wonderful beautiful little Emily and we would cross whatever bridge when we come across it.  On the 2 January 2014 I had to make the most important call and that was to find out whether the main test had come back positive.  Luckily for my nerves the Consultant was available to speak to me straight away and I will always remember her words and they were "I am pleased to confirm that Emily's results have come back negative and she does not have cavermans disease" I will always remember coming into the front room where my mum and my brother and his family were and telling them. We still had to wait on some other results which were genetics to come back but the Consultant was positive by this time as Emily was progressing, again in baby steps but anything is positive right?

As the main test had come back negative and also the white cell enzymes negative the next step was to carry out a MRI with contrast and MRS scan in Southampton to try and find out further what the condition could be that Emily has.  As any of you that has been under the hospital know, the amount of time you have to wait between appointments is ridiculous and pretty unfair.  We waited and waited for an appointment as the Consultant said she would put it down as urgent. Every day I would open our post box but with no luck.  At the end of February I called the Consultants secretary who told me to call the MRI department as the referral had been done her end.  I spoke to a very uppity lady who informed me that she was on the system as a routine scan and we should hear something in April in regards to the scan.  I then called the Consultants secretary as I was less than happy with this, who then got the Consultant to call me.  When the Consultant called me the next day she was under the impression that the scan had been done and dusted so to speak. The following week I got a call to say that Emily's scan had been scheduled for 3 April 2014. Although we had waited so long for the MRI and MRS scan as soon as I heard Emily had been booked in finally it sunk in that we may or may not find out what is wrong with her once and for all and we would no longer be plodding along waiting for appointments.  While I know we need to find out whats wrong part if me thinks ignorance is bliss and what we don't know can't hurt us and will just cross the future as and when we have to.

Emily had her scan done last week and considering I was absolutely dreading it, it went better than expected and although I felt sick and wanted it over I was not the emotional stressed out mummy I thought I would be.  This is down to my wonderful mum and my sister in law who were there with me and done a great job of keeping my mind off the whole thing.  The only time I become panicked was when after an hour and quarter which was when we were told she would be back in recovery she wasn't! Sat in a small room watching people go up and down the corridor was the worst, especial when two gowned up professionals went running down towards the scanner room. Soon after the nurse come and got me to go and see Emily as she was crying.  After a mummy cuddle she looked around her enjoying the attention and wondered what all the fuss was about.

We now have to wait until 24 April which is our next appointment with the Consultant to hopefully have the results and move forward somewhat.  Emily is continuing to do well and although she isn't doing anything physically that a baby of her age should. However she has started to clap, wave and babble not to mention being the most happy and content baby that there can possibly be.

Until the appointment we need to remain positive and optimistic and deal with whatever we are told.