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.

Tuesday, November 27, 2012

Rough week

Hello my precious little Angel

Its been a while since mommy has written to you. Life has been a little hectic with work and your sisters writing exams and you not being so well. I get angry at myself because this is no excuse to not write to you.

The last week has been a really rough one and not a very happy one for you. Since Saturday (a week ago) you started being a little on the niggly side and having high temperatures of about 38. On Sunday your fever boke and you were feeling a little better, until about 13h00 that is. You woke up from a nap and definately werent a happy little boy. So daddy cuddled with you a little just to realise that your mickey had started bleeding. We cleaned you up and treated the mickey with the necessary meds and it was all sorted. Not even ten minutes later your mickey was bleeding again and quite a lot. I was a bit concerned so told daddy that we needed to take your mickey out and see if it was the stoma that was bleeding or if it was coming from inside your tummy. So out came the mickey and all the gunk in your tummy that had been irritating you, but no blood. Whew what a relief !!! Again we cleaned you all up and fortunately that was the last of the bleeding.

Sunday night was a very restless night for you and for us ..... non stop crying. Off to the doctor we went. He said your chest sounded relatively good but your throat was a little red. We werent taking any chances and put you on antibiotics straight away. Again I was relieved that treatment could be done at home.

Monday night was a little more rough than Sunday, so much so that I didnt even go to work on Tuesday. Mommy was really tired and kind of feeling like I had been run over by a bus or dragged through a bush backwards, not that I actually know what that feels like and not that I got to get any sleep during the day either, but that was pretty much how I felt,

Up until about 23h00 on Tuesday night you were settled and sleeping comfortably, After that,  well you cried and cried and cried and ...... cried some more. I could hear your throat was sore, but worst of all I could hear that static sound in your nose again. The sound was so loud, it was almost as if someone had stuck a TV up your nose and put it on and couldnt get a signal, resulting in that horrible sound coming out your nose.

On Wednesday morning, daddy took you back to the doctor and he told daddy that your little chest had deterorated drastically within a space of two days and you had lost weight :-( The doctor gave you meds that is a booster to the antiobotic, but sadly this just was not working. You were more miserable than ever.

Thursday mommy took you straight back to doctor, he touched your leg and told us that he did not like the feel of your skin. So straight to hospital we had to go :-( although I was not too happy, we knew that this is where you needed to be because home treatment was just not working :-(  You were so miserable and your little body was so sore that the magical veleron drops didnt even work to settle you.

So with a grumpy and sick little boy and a tired and grumpy mommy :-) they gave us a bed to sleep in instead of the cot. You wouldnt go to sleep unless I was holding you and every time I put you down you would just scream. Besides the fact that I am too short too even climb into the cot (need a chair to get there),  the two of us just wouldnt fit in together ..... Even if we did, I think we would find ourselves on the floor very soon after.

Anyway I told myself that we just had to get through the first day, crying and all. Normally after two doses of intravenous meds you feel better, BUT this time there was no such luck. You only really started feeling better 4 days later and by this time we were both totally exhausted. Although you had been sleeping in the bed with me, it was a very restless sleep and ............... well we all know how it is in a hospital. Supposed to be a place of rest but nothing of the sort.

Mommy asked the doctor if your scoliosis was putting pressure on your lungs, thus causing you to be where you are and uncomfortable. So we did xrays and immune difficiency tests. The results came back that your scoliosis had definately worsened, but that wasnt anything that we didnt know already, but atleast the doctor felt comfortable with the fact that it isnt your spine that is making you uncomfortable or keeping you in any pain. The results for immune dificiency came back really positive - NO dificiencies whatsoever, doc says your immunity is actually quite good. ............. so why do you keep getting so sick ...... Hypotonia ........, this means that you have really low muscle tone (we knew that already) and because you have no muscle tone in your stomach and your back, you battle to get the phlegm up and out, causing you to keep getting pnuemonia .............. a sickness which ultimately tends to take the lives of precious little angels like you. Most people dont understand why we stress so much when you do get sick. Ultimaly it is not trisomy 18 that will take you from us, but something as simple as a cold :-(

Your doc is going to refer us to another ortho doc in January and he says he will probably be able to help us with a little back brace for you and send you to OT and get you to learn to sit. This will definately help with your chest once you can do this - so holding thumbs that we can get the back brace and make things a little more comfortable for you and at least try to slow the scoliosis down.

Only after four days in hospital are you beginning to feel better. Starting to smile and react playfully instead of crying :-), so yay we were finally on the road to recovery !!

This morning, mommy and daddy, together with the doctor decided that you are not ready to be sent home yet. Although clinically you are looking much better, your chest still sounds horrendous. So some more physio and suctioning and new nebs to open the lungs and tomorrow we will see if there is an improvement. We really dont want you to go home and you are only 80% better and then in a weeks time you are back in hospital. Mommy and daddy want you to be 100% better before we come home.

So here is hoping that God will perform one of his miracles on a little miracle and clear your chest so you can come home.

Love you to infinity and back baby boy