Letters to Lior

Trsiomy 18

There are 23 pairs of human chromosomes. In Trisomy 18 (Edwards syndrome), there is an extra chromosome with the 18th pair. Like Trisomy 21 (Down syndrome), Trisomy 18 affects all systems of the body and causes distinct facial features. Trisomy 18 occurs in 1 in 3,000 live births.It is three times more common in girls than boys. Unfortunately, most babies with Trisomy 18 die before birth, so the actual incidence of the disorder may be higher.Infants who survive, experience serious defects and commonly live for short periods of time. Trisomy 18 affects individuals of all ethnic backgrounds. Trisomy 18 severely affects all organ systems of the body.The majority of children who are born with Edward's syndrome do not live past their first year of life. Their average lifespan for half of the children born with this syndrome is less than two months; approximately ninety to ninety-five percent of these children die prior to their first birthday. The five to ten-percent of children who do survive their first year experience severe developmental disabilities. Children who live past their first year require walking support and their ability to learn is limited. Their verbal communication abilities are limited as well, although they are able to respond to comforting and have the ability to learn to smile, recognize and interact with caregivers and others. They can acquire skills such as self-feeding and rolling over.

Monday, February 11, 2013

Not what we expected

Good morning my precious little angel

The last two week or so has been a little on the rough side, not for you, but for mommy and daddy. We took you for your appointment at the spinal surgeon and came away totally heartbroken. I guess at the end of the day we went with expectations and those expectations were not met or even close to.

In no way was the doctor mean or unhelpful in fact he was quite the opposite. Anyway we had to take you for xrays so that your spine could be measured to see what percentage the curve is at.

Daddy and I were so excited cause finally we were going to have a brace made and help correct the scoliosis. We were sitting quietly in the doctors office and he was measuring and examining the xrays and then asked to examine you, which he duly did.  After all of this he explained to us, and I say explain because he put it in a way that we could understand  - not all these medical terms that some doctors make it difficult for people to even comprehend what they are saying. In plain and simple terms he let us know that the curve in your spine is now at 60%.

Firstly, the one major thing that counts against you is your weight. You are now only just over 7kg and it has taken us three years to get you there from 2.5kg. The doctors will only conisder a brace for a child once they are 10kg and over and the chance of you getting a brace is pretty much slim to nothing. He explained to us that the type of scoliosis that you have, causes your spine to curve to the right and should you have a brace, it would be designed to put pressure against your rib cage which will in turn put pressure on your lungs and your breathing capacity will really become a lot less than what it is now - and cause severe uncomfortability for you - NOT want we want.

He also explained that they would normally do surgery and fuse the spine with  ......... i suppose you would call it screws that will expand with your body as you grow but in your case you would never survive the surgery and that is not a chance we are going to take. Like daddy says - keeping you comfortable is our first priority and at the moment you are comfortable - no complaints whatsoever.

I guess the part that really broke us was when he told us that the ideal position is to keep you laying down - WHAT  - NO WAY !!! - I am never gloing to just let you vegitate. Firstly we cant do that because you will then suffer with your little lungs even more and we will probably spend every second week in hospital with pnuemonia. Secondly - what quality of life is that for you and then thirdly even if we wanted to try and do that there is just no way YOU would allow that. All you want to do is sit and stand - obviously with our help of course. Every time you are laying at an angle in our arms you pull yourself up to a sitting position - you WANT to be on the move. You wiggle and kick your little legs as if to say GO GO GO!!!

The doctor did phone some other ortho doc of some sort to see about having a foam cast made which could also help with your spine. It wouldnt correct the scoliosis but it would definately slow it down. Again it was not good news. You are still far too small for one of those as well. There really wasnt much else that the doctor could suggest or do. I just sat there battling to hold the tears back and when the doctor walked out to the next room I mumbled to daddy that this was not what we wanted to hear.

We left the doctors rooms totally dejected and heartbroken, not knowing what to say or how to react. The drive home was quite and felt like an eternity - even though it is only a 40 minute drive. My heart and my chest felt so tight - this was the first brick wall that we had hit and I am sure there will be plenty more to come. Daddy and I have taken a really hard knock on this, even to the point that daddy is really sick at the moment - the colds that we have managed to keep at bay for so long have just come full force. Our bodies feel like they have been trampled over by a thousand horses. BUT we will not let this deter us !!! Your little spirit and determination gives us hope and keeps us going and although we are thankful every day, its times like these when we see your smile, energy and determination that we become more determined, when your  innocence and unconditional love melts our hearts and we know we will do everything that we can for you.

Love you ever so much my angel boy !!