Why Hi...

The days turn to weeks, weeks to months and before you know it ... a whole year has past by since I last blogged.


It's been a busy year, a year of fun, a year of growing and a year of some very difficult decision making.


The main decision was regarding Emily's future education.  In all honesty, Emily has struggled on and off ever since she first started the journey that is education.  Her periods of anxiety, often quite extreme, have been a problem since the beginning. 


Since 2010 Emily has been dual schooled - her main placement being a local special school for children with severe learning difficulties but she also attended the same mainstream primary school as her brother two days per week, with full-time 1:1 support from the special school.  In all honesty, the fact is we do not feel there is an appropriate provision for children like Emily in our area.  Emily has always struggled with anxiety around other children, she is very sensitive in many ways and relies heavily on adult support in all areas of her development.


These periods of anxiety have never really greatly improved despite having involvement from other services and we have also had issues with what we felt was a low expectation on her abilities.  I guess looking back we have never been completely happy or felt the provision was appropriate for her, perhaps we should have followed our gut instinct a few years ago.


So now it's been a whole year since Emily's last day at the special school that she had attended since 2010, her final day at the mainstream came a couple of months later.  It was a very difficult decision to make, not to mention also a very scary one, but so far we feel it has definitely been the right move for Emily.


Her general day-to-day anxiety has reduced, she seems happier and calmer most of the time.  We still have moments of complete madness when something sets her off but we can to some degree foresee these situations and manage them accordingly.


So, you are probably wondering what provision is working for her now ....... we chose to opt-out of the state schooling system [for now] - Emily is currently 'educated otherwise' which is the correct term here in the UK for being home educated. 


I gave up my job to enable us to facilitate this option ..... not easy, money can be tight but it's worth it to see a girl that smiles every morning, isn't vomiting most days, isn't repetitively talking about the issues around school that scared her and isn't kicking, screaming and crying on the school run every day.

Two months ago already?

Can you believe two months have passed us by since Christmas?  I can't!

It worries me if I stop to think about just how fast time flies.  Time is precious to all of us and that's why we should all just stop ..... look around at our wonderful lives ....... and cherish every single second of it.

We are all guilty of taking time for granted ..... taking life for granted.

As I was searching through my photographs to try to find one suitable to begin my blogging off again, it didn't take me long to notice that I do not have many photographs of myself and certainly hardly any of me with my two amazing children.

That saddened me and for many reasons it just feels wrong!

So you know what my new year resolution [made in March] is don't you....

"Whatever you want to do, do it now! There are only so many tomorrows."
Pope Paul VI

Eye surgery .....

So I begin this post by yet again apologising for not posting in such a long time!

I'm not going to bore you with a reel of excuses but what I will say is I definitely won't leave it so long next time, blogger has changed so much since I last posted - it's like starting all over again [serves me right I guess!]

So why post now?  This week will mark the anniversary of Emily's second eye surgery - for those who know us ...... can you believe that nightmare was a year ago?

 

These two images are the 'before' shots for both of her surgeries.

 

If you look closely at the first image you will notice Emily's right eye [left as you look at image] looks strange ..... basically at the time she had NO sight in her right eye what so ever!

 

So what happened you are probably asking?

 

At the end of July last year, Emily woke one morning and her right eye was wandering in all directions.  We have always been used to it pulling inwards and also wobbling fast due to her on going visual impairments but to be wandering in all directions wasn't normal.  It soon settled down - so we thought we would monitor.  Two days later I began to notice a very faint cloudiness appearing on her pupil.  We took her to the doctors the same day who could see something on her lens but wasn't sure what it was, however, it did have some things which he felt definitely needed to be ruled out so sent an urgent fax to her Ophthalmologist consultant.  Unfortunately, Emily's consultant was on sick and his understudy didn't feel it was urgent so gave us an appointment for the end of that week. The following day I was doing something whilst Emily was stood next to me with her right eye nearest me - when I smiled at her she didn't respond, so I stuck out my tongue - again no response...... the sudden realisation that she had no sight in that eye hit me like a steam roller!

 

To cut a very long story short as we were passed from pillar to post, with many very scary scenarios been mentioned to us we finally got to see her consultant a week after the nightmare began.

 

Emily's anxieties run extremely high at hospital appointments so we are very limited to what tests she will allow, the consultant had given us an idea on what he thought was the problem although he was shocked that it could be this himself as there had been no previous sign of the occurrence - so he felt he needed to arrange for a full eye examination under GA to definitely confirm what he was thinking.

 

This happened on 13 August 2012 - thankfully his initial diagnosis was confirmed [the better of two evils really] - Emily was diagnosed with fast onset significant cataracts in her right eye causing complete sight loss!  We were all shocked at just how fast this had developed - she had only seen the consultant a few months earlier but the diagnosis was better than some of the other possibilities.  He then went on to say it is also developing in her left eye too - currently 'moderate' in progression but considering how fast her right eye had gone we knew we perhaps didn't have much time to play with.  This was a huge blow - and quite frankly shocked all of us.  Emily has quite a severe nystagmus in her right eye so we couldn't afford for her left eye sight to deteriorate any otherwise she would struggle to see very much at all due to continuing eye wobbling.

 

The options were lens removal and use contacts and glasses, or have implants in both eyes and use bi-focals.  We knew Emily would never cope with us putting contacts in her eyes everyday so made the decision for the consultant to attempt implant surgery - if it failed then she would have to wear very very very thick glasses.

 

Her right eye surgery went well - thankfully the amazing surgeon managed to fit an IOL.  We didn't know however how much of her eye sight she would regain - that was to be a waiting game.

 

The consultant felt it necessary to proceed with her left eye as soon as possible so she didn't begin to lose her sight in that one also.  The surgery on her left eye was performed two weeks later.  Again with success implantation of an IOL.

 

 

 

We had many months of regular hospital appointments, eye drops and creams to be administered regular both during the day and night but as always - we survived it!

 

It was a stressful summer to say the least!

 

We still go for regular check-ups of which are never easy - Emily's anxiety is through the roof and even a year later she still won't conform to some necessary tests that she needs to ensure there is no signs of pressure behind her eyes.  She is now at a high risk of developing glaucoma.  We have tried some ad hoc sedation prior to appointments which she has had a severe reaction too - so the next option will be to be examined under GA again.

 

Her vision improved in her right eye - and is probably about back to where it was prior to the cataracts developing - which is fabulous news, even though her vision was not perfect in the first place.  Other than her now wearing bifocals - you would just never know that she has had cataracts and doesn't possess her own lenses in her eyes.

 



HaPpY NeW YeaR

I just wanted to stop by to wish all of my followers and those who are just beginning their journey and therefore have found my blog when searching for information on 17q21.31 Microdeletion Syndrome / Koolen Syndrome -

A  Very  HaPpY  &  Healthy  2013

 

Last year seemed to have more lows than highs but we survived them and are still all smiling.

 

 

 

We enjoyed the festive period.  Spent lots of time with family.  Spent lots of time playing and having fun.  Spent lots of time eating.

 

     

 

Joshua got his Xbox and Emily got her boy baby [which was pretty much all she asked for and she doesn't get any easier to buy for!].  She is going around telling everyone "he has a diddle" but thankfully isn't insisting in showing his "diddle" off to everyone!

 

Hope you all had lots of festive fun too.

 

 



 

HaPpY ChRiStMaS

 

Long time no hear

So, I think the first thing I need to be saying is "Sorry it's been so long since my last post".

Nearly a year has gone by since my last post. A hectic year it has been too. In brief, here's what has been happening..... I will add individual posts in the coming weeks to share in more detail.

 

• The building works continued and we finally got the major works done by January this year.  We have just about finished now apart from the odd cosmetic jobs but enthusiam and funds have run low.
• Emily had a couple of seizures at school.
• Emily had to be referred to a Clinical Psychologist due to her ever increasing anxiety issues.
• Introduction of ICT equipment in to school for her.
• Annual review at school.
• We took a well deserved holiday to Florida - Disney.
• Emilys eye sight deteriorated - requiring surgery [very stressful].
• During the stresses of Emilys eye issues we escaped and had a last minute family holiday to Butlins.
• Emilys Grandma [my Mum] had a heart attack.
• 17q21.31 Micro-deletion Syndrome became something else!!
• One-to-One education continued at home whilst off school and WoW.... thinking this is the way forward for Em.

 

 

Hoping all my blog readers are well.  I will do my first update shortly.

 

See ya soon.

Week 3 and 4 - The Build

At week 3 and 4 we aren't having to use our imagination quite so much ~ it is starting to take shape...



and the bricks have arrived - yippeeeee.

Week 2 - The Build

The machinery [and men of course!] have been busy, busy, busy



The very very deep hole is complete ready for the foundations

We encountered a little problem based around the water pipes but was overcome by going deeper than planned and bridging the pipework [under the instructions of Mr Building Inspector]

It means that we have an 8ft deep hole around our house ~ not a good mix with young children and being on the path side of the house, hence the wire fencing to keep it as safe as possible

  

I've lost count of how many skips came emply and left us 'over' full

1, 2, 3, 4............. no  definately more than that.

School Dayz..

Both my little beauties are back at school

Wishing you both a wonderful School Year full of Fun, Laughter and Learning

Let the work begin....

It's taken us many many months to get to this stage ~ yet more red tape and bureaucracy we found ourselves having to navigate - but like most things we got there in the end.

We are trying to plan for the future and ensure that our family home [which has been in my family for 5 generations now] is suitable for Emily as she grows up and will enable her to have the independance she will need as the years pass.

So I was very excited when these little babies landed on my premises.....

   

Each week I will try to add a picture so you can share in our journey and stresses. 

Exciting times..

[These images aren't up to date - the work commenced a couple of months ago so we are quite far on with the development]

Hula Fun

This summer has been a Hula lot-a fun so far




Hope you're all enjoying your summer too

New Meeting

Although I don't get the time to update my blog as often as I would like to these days, it still warms my heart every time someone new makes contact with me because of my website and blog journey.

After all, this is the exact purpose for doing it.

A family made contact with me a number of months ago now and what a lovely family they are too.

We recently arranged to meet up half way between their home and the therapy centre we take Emily to on a weekend. 

It was nice to be able to share our experiences and offer mutual support.  It was also nice for this family to see a slightly older child and see what challenges may or may not be ahead for them.

We had a nice day at an indoor play centre, where all the children had fun and us Mums got to eat chocolate cake together..

It was lovely to meet you guys - may our friendship continue for many years ahead.

Just around the corner

What is ??

I can smell it ~ I really can.....

It must be ~ we got to go to the park... 

SPRING is just around the corner

[fantastic]



Red Nose Day

Today the children got to dress up for Red Nose Day in aid of Comic Relief

Emily found it hard this morning - she didn't understand that it was a school day as she didn't have her school uniform on.  Serious strop = late for school!

Just thought I would share this photo with you

Eye Spy!

I just had to share this with you....

At my parents house the other day, my Dad decided to play "Eye Spy" with Joshua and Emily........ obviously more for Joshua's entertainment.

However, Emily decided to have a turn..

"a pa ma eye" - she said

(interpretation = eye spy with my little eye)

"nining H" - she said (using phonic sound for H)

(interpretation = something beginning with H)

So my Dad, Mum and Joshua spent a good 10 minutes saying the names of items beginning with the letter 'H'

During which time Emily had wandered back to the television and become engrossed in Something Special watching her favourite character Mr Tumble

Eventually they gave up.

Emily they said ~ we have no idea ~ we give in.....

So she casually walked up as if they were stupid or something and said...

"Hooooor"

(Interpretation = DOOR)

and she pointed at the Door

I found it hilarious - but at least she joined in eh.

[I will do a post soon about Emily and her progress with her speech]

Orthotics

I started to get a little concerned over Emily's feet lately.

Her positioning particularly on her left foot was not correct in my opinion.  Her GP said it seemed fine but I wasn't convinced so paid to see the Podiatrist privately {she was discharged via the NHS service when she was around 3 years old} - the waiting list in our area is around 18 months!!

I wasn't prepared to wait.......

So off we went and thankfully my "Mummy" gut was right.  The fat pad on Emily's heel has slipped to one side, which means as she's walking she is walking on her bone.  This is why she periodically walked on the side of her foot - to compensate for the pain she was in.

So now she has to permanently wear orthotics.  We are hoping that this may help encourage the tissue to move back slightly to the correct position but for now I'm thankful that we have detected this early to ensure it doesn't cause any further incorrect positioning issues.

She will be monitored every six months to ensure the problem isn't getting any worse.

Oh how I wish she could speak so she could actually tell us what hurts and when!!

Hoppy! New Year

So 2011 has arrived ~ infact we are nearly a full month in to it....

Yikes where did that time go?

I promise, although time is extremely tight right now due to my hectic schedule I really am going to make more of an effort to keep you up to date with whats happening over here in Emilys life!  A few newly diagnosed families have made contact with me via my website just lately so now is just as an important time as any time before.

So here's my first post of the year so let's hope we all have a wonderful one.

HOPPY NEW YEAR all my blogger friends.

[This is a picture of Emily at her school Xmas pantomine]

Five.....

27 November 2005

Saw the "very swift and stressful" arrival of

Emily Jean - weighing 3lb 8oz

So, today please join us in wishing our brave, beautiful and simply amazing little princess

A VERY HAPPY 5th BIRTHDAY

WE LOVE YOU VERY MUCH SWEETHEART

"Hello"

Mummy wanted to just drop by to say "Hi" to you all

Sorry for the delay in updating my blog page and keeping you all up to date with what's happening in our world at present. 

Life is pretty manic at the moment with 2 jobs, 2 college courses, 2 kids and 1 husband - not to mention throw Christmas in to that equation too ~ if I was to say "I'm meeting myself coming backwards!!"  I'm sure you all understand.

I have lots to blog about ~ which I will hopefully get adding soon.

I just wanted you all to know that all is good here and that I haven't forgot about you all.

Emilys Mummy ~ Tracey x

"That Subject"

I just wanted to share with you a little something that has really excited me this past week!

Emily has finally done a pee pee and a poo poo on the toilet - YEAHHHHHH this is huge progress in that department.

We are still getting plenty of "accident" clothes to wash - you know she likes to keep me busy....... but I am so proud of her achievement.

Baby steps of progress mean the world in my world!!