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.

Thursday, December 15, 2011

Ever so thankful

Good morning precious angel - I Just have to start by saying mommy loves you so so much.

Well my big boy my thoughts have been wondering a lot lately and especially this last week, I have realised how thankful I am for your doctor who knows you so well. Last week Wednesday you were a little ..... okay very niggly :-)  so daddy took you to the doctor on Thursday morning, we would have gone on Wednesday but it was his day off - I guess even doctors need some time off. When he saw you, he didnt even hesitate to tell daddy to take you straight to the hospital. He said your colour was off and that your body temperature was way cooler than what it should be and that you were probably dehydrated nd needed to be put on oxygen - and that in no uncertain terms scared the hell of out me. I am begining to think that you like the hospital, cause once we were there you settled and went back to your normal self for a little while. Hmmmm little monster - mommies little monster :-). Anyway daddy and I could not quite figure out how you could be dehydrated, you were taking all your feed, you werent vommiting - well you cant vommit and you definately did not have a runny tummy.

Anyway we did all the nececessary blood tests and xrays of which we would only get the results in the morning. And this my baby boy is how well your doctor knows you. By 6 in the evening your tummy started running like crazy, so much so that within 20 minutes I had to change your nappy 6 times !!!!! Fortunately you were already on a drip so you couldnt really dehydrate.

The next morning when the test results came back it showed that you werent dehydrated but your sodium levels had dropped which indicated that you were on your way and that your infection count was at 71 when the normal is between 2 and 8, you were also in the begining stages of bronchial pnuemonia - Scary how well Dr Roelofse knows you. So yes big boy I am ever so grateful that we have a doctor that does all he can for you to keep you as healthy as can be and as comfortable as can be. I remember one day daddy had said to him that he just wanted to thank him for all that he does for us and for you, cause we know a lot of doctors dont like to treat T18 babies and he responded that one day he would have to stand in front of GOD and explain to him why he didnt or did. What a humbling experience.

Daddy also had the pleasure of Dr Roelofse having a student doctor with him on Tuesday and he showed her all of what is wrong with you - well in my mind there really isnt anything wrong with you, God made you as perfect as you can be, and perfect in our eyes  ......   just not perfect in others eyes. But we cant blame them, we are all human and if you are not in a position that our family is in, nothing will ever be perfect. Okay I am getting away from what I actually wanted to say - Dr Roelofse told the student doctor that he and all the other doctors had given you a zero % chance of survival and look at you know, you have proved everyone wrong..... and why ..... all because of the love of your parents. NOW THAT MADE MOMMY AND DADDY EVER SO PROUD, but we cant take all the credit cause your sisters and ouma and oupa and granny and grampa, aunty Tich, uncles Kev, Ced and Mathew and we cannot forget aunty Teressa, Tersia and Bren, and so many others, they all just love you so so much.

Glad you are better baby boy and that it was a quick hospital stay.

Love you so so much pumpkin pie !!!

Tuesday, December 6, 2011

The sound of a miracle

Morning mommies precious little pumpkin.

I got home from work last night and you were a little on the niggly side, neither daddy nor the girls could get you settled. So mommy decided to give a bath and try put you to sleep - you battled a little but once you were out ...... well you were out. You slept really well last night and while you were sleeping I lay in bed listening to your breathing, it was SO MUCH deeper and each breath seemed somewhat longer than normal, but it didnt concern me - because somehow in my heart I knew you were fine. Even though your breathing pattern was different you didnt have any difficulty breathing and you seemed more comfortable, as if your lungs were getting the much needed air that they want.

I must have layed there for an hour or two listening to your breathing before I fell asleep, but in those one or two hours, although I have always known, it really really dawned on me as to what a little miracle you are. How I have always prayed for God's richest blessings and I realised last night that he HAS given me his richest blessings, YOU, YOUR SISTERS AND DADDY !!! - what an awesome blessing to have and what a blessing it is to be able to listen to your breathing - the sound of a miracle. How many people get to hear the sound of a miracle every single day - not many !!

Love you baby boy