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.

Wednesday, June 26, 2013

Busy and tiring times

Hello my precious :)

Wow where to begin .... the last few months have been a little on the hectic side both at work and at home, especially at home with all the birthdays that we have had. But thats all done and dusted now - well at least for a while it is.

We have been through a few tiring and difficult days the last few weeks and it started off with the company that makes your melatonin changing the formula of the stuff and it just was not working for you anymore, which means no sleep for any of us and unfortunately it took us about a month to figure this out ..... yes we were basically zombies by then :) The only reason we figured this out was when we wanted to order a few more bottles, the pharmacy informed us that we could only order 1 as the formula had changed and would only be okay for a period of 30-40 days .... jip you guessed it .... light bulb moment .... you wont sleep, formula has been changed .......... ting ting ting ............ put two and two together. FINALLY we had a reason as to why you wouldnt sleep. So we decided to try tablets and just dissolve them in water and ............ whalaaaa back to normal. Yay you are sleeping again and now our bodies had to readjust from getting no sleep to getting more than enough sleep - so we were pretty much tired on a permanent basis.

When things settled down and you were back to yourself we decided now was the time to catch up on your immunisations - time for the MMR and the pnuemochocal, yes its late, actually very late but better late than never - well so we thought.  I was stressing my butt off and making sure that the clinic had oxygen for you in case you cried too much and have difficulty or even stop breathing and we definately did not want to go that route. Turns out you didnt even cry, not even an ouch ........ such a big boy for mommy and daddy. All was well, until a few days later. All you wanted to do was sleep - 24/7 only waking up for feeds. Now this is most definately NOT you :(  We decided to be on the safe side and take you for a check up with your Paed and to our surprise there was absolutely nothing wrong. Doc said your chest, throat and ears had never ever been so clear - WOW - so what now, just ride it through and see what happens? Another week went by and still, sleep sleep sleep is all you wanted. You can imagine by now that daddy and I were pretty much on the worried side.

A day or two later, you started with a runny tummy and NOTHING worked, not even the questrain, and normally just one dose of that you and are right as rain. I also noticed you had a bit of a discharge, so off to the doc again. On hearing that you had a discharge with  the runny tum, he admitted you straight away.

Six months of no hospital and we were back again.  All kinds of tests were done and most importantly a sonar on your kidneys to check that there was no kidney infection or tumors of any sort.

A few minutes into the sonar, after checking all your other organs the tech asked me to turn you to your side. Nothing strange about that ................ uh ja ........... thats what I thought. So anyway a few more minutes and she promptly announces that you only have one kidney - the left one is just not there. WHAT !!!! - I guess I shouldnt be surprised as it is most likely a part of the T18, but then again there are lots of people that only have one kidney.  So as any normal parent would ask - what is the draw back to only having one kidney. NOTHING,  absolutely nothing, the only time it would be a problem is if you go into renal failure and then you wouldnt have the other one to back it up - but normally both kidneys will go into failure at the same time. Well now that is reassuring - NOT.

In any event, you have managed well for the last three years and the doc sees no reason to panic. Shoo (wiping my brow).  Almost a month after your injections and only now are you finally begnining to be yourself again- wide awake and playfull during the day - some nights too - but at least we are happy and getting some sleep.

It always amazes me that although you really feel iffy you always manage to smile and make mommy smile. You really are my precious little angel.
 Yesterday we also had to have your grommets redone. Yes that means anaesthetic again - and you know how we feel about that - but we need to keep you comfortable and pain free. So, except for your heart rate going down a little and as your aneathetist would say "giving her grey hairs" all went well. She made sure all your calming meds were given before they woke you up and Whalaaaaa no crying little boy after theatre - it was awesome.

Aaah, so upward and onward - for some more good times.

Love you so much baby boy !!!!