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, February 29, 2012

Hip hip hooray

Hip hip hooray .................. Hello my 22 month old miracle !!!!!!

Today you are 22 months old, lively, happy, chirpy and definately compatible with life and full of life. I know some people think it really stupid that every month I wish you a happy birthday, but as other Trisomy families will understand, we celebrate your birthdays in days, weeks, months and then years - because your little life is so precious and so limited and because every single second, minute and day with you is just a complete miracle and so very special.

So happy happy happy happy happy happy (cant say that enough) birthday big boy - just like your sister Tia said last night - YOU ARE THE CENTRE OF OUR LIVES.

Love you baby angel.

Tuesday, February 28, 2012

That damn mickey - Urgh !!!!

Morning my precious pumpkin

So we had a relatively restful week last week, but since the weekend it hasnt been so great so hopefully we will be over that soon.

On Saturday morning you were cramping terribly after your feed so I put you over my shoulder - a position that normally seems to settle you quite quickly but you didnt and not for a while. You then gave one big heave and had a not so small vomit over my shoulder - which indeed confirmed that the nissen is once again loose (sigh - breaks my heart). Then suddenly I realised that the whole front of me was wet and I guess out of habit checked to see if it was your mickey that was leaking again or you somehow managed to vomit all over me and not only over my shoulder. And well yes, you guessed it, your mickey wasnt leaking it just freaking popped right out of your stomach. Thank goodness I did check cause as we all know how mommy panics with the stoma closing, I panicked like crazy, ran around like a chicken without a head :-) but thanks to daddy all was sorted chop chop, while mommy cleaned you up and cleaned the stoma, daddy cleaned the mickey and we got it back in time - not without my shaking hands though, but at least it ended all well. So now we have had to order another mickey cause this one obviously has a leak in the balloon. We keep topping it up by 2 - 3 mls every day because it just seems to deflate over night. Should be getting your new one today - thank goodness cause this is really nerve wrecking.

We also decided to take you back to the doctor on Saturday for a check up because you have been a little on the mizzy side - thank goodness we did that too, cause your chest is so full of phlegm again. I also asked the doc if we could put you back on antibiotics just in case of infection with all the drama from the mickey and he said well with your chest the way it is, we dont really have an option. At least we had stock of this at home. So once again my precious angel we are pumping you full of medicines again - at least we can do all that we have to at home and not have to go to a useless hospital - oh how I wish your doc would find another hospital :-( So mommy is doing all your physio and nebs at home (twice a day) and that seems to have helped quite a lot actually, you dont seem to be as congested or sound so phlegmy any more, so we will continue with this. Your doctor also suggested putting you on Nexium for the reflux, especially now that the nissen has come undone again and so far so good - but it all just seems like so much again, so much medicine. I wonder how your little body seems to cope with it all, how is it that your little liver hasnt decided to just give up - but by the grace of God it hasnt.

Another thing that daddy and I are baffled by - even the doctor is - normally we battle with the circulation in your body so your hands and feet, arms and legs too, are always ice cold, but for some unkown reason your legs are really really warm and the rest of your body is cold. We keep taking your temperature but that is normal. We are hoping this isnt something that you body is trying to fight off and maybe its the circulation that is trying to sort itself out. Your doc said we shouldnt stress just yet, but if you start with a temperature or anything else changes we need to give him a call.

Oh my honey, how ........ how do you do it. How do you manage to stay so strong and fight so hard, when sometimes I am so ready to just give up and there is nothing wrong with me. I am an abled person, I can do what I want when I want. You cant always do what you want or even communicate it at times and you always stay so happy and cheerful and fight with all your might.

I guess my saving grace is that Daddy has taught me and your sisters, that when we are down to just look your way and realise that we have so much to be thankful for, and that we have so much to fight for, so why not do it with a smile and the love that you give and show to us all.

Love you baby boy - you are just so worth it !!!

Friday, February 24, 2012


Hello my precious little pumpkin.

Its been a while since mommy has written to you and in my defense (which really is a lazy excuse) I have been rather on the exhausted side lately. Not long after my last post you got a bit niggly and daddy and I werent taking any chances. We took you to the doctor and he said all was okay, it was only congestion in the nasal area, nothing in your chest. Wow what a relief, I seriously thought we would be going to hospital. At least we could do all your treatment from home, I mean we really have everything we need and mommy has been taught to do your physio so we were all set. The doctor even gave us antibiotics in powder form in case in a day or two or any other time we felt you would need it, then we could mix it up. Sigh ...... we had to mix it up the next day, you started with a really very runny tummy. We quickly mixed the meds, gave you questran and within hours your tummy settled and all was good. You were getting better so quickly, daddy and I were rather surprised - it normally takes a while. BUT two days later you started with a fever and we just couldnt get it down, no matter what we gave you, so straight back to the doctor and this time in my heart I just knew we would be going back to the hospital ....... and so it was.

Your hospital stay this time round really was the most frustrating, exhausting and emotional stay ever. I just dont know what happened, it was as if no one even gave a damn, no one but mommy and daddy and your doctor. what was most frustrating was that they couldnt get a drip in you, not even in your head, tried twice and that was that they didnt want to try anymore - Now my sweetpea I really dont like hurting you but in my mind you needed the meds intravenously and not orally (you just finised a course of oral meds why would it work now)- but they still wouldnt try - eventually they decided to give you a double dose of your antibiotic striaght into the muscle in your leg - NEVER AGAIN - I have never heard you scream the way you did and still I think back and wonder how you just didnt stop breathing with the way you were screaming. My heart broke ... what was I allowing them to do to my precious baby.

On the friday evening when I wanted to bath you I discovered a rash all over your tummy and back. I told daddy that it had to be the antibiotic, after all it was the only thing that was different that we gave you. So without consulting the doctor or the nurses (who might I add were just completely not of standard) I stopped the meds. When he got there the next morning your doctor said it was the right thing to do. So we changed them and whala all good the rash went away within a day.

So in any event without making it a really long story we got you better and got you home, but WITHOUT your melatonin. What a battle just to get some - the pharmacy at the hospital does not make any, Our normal supplier wouldnt make any without another script, so we had to get a new one and bearing in mind it takes about 4 days before we get the stuff from when we order it. So back to sleepless nights it was. 00:00 ..... 02:00 ...... 04:00 three nights in a row and its not as if you slept during the day either, you would be awake by 07:30 - how you do it I just dont know. So a few sleepless nights and having to get up at 05:30 to get done for work and take your sisters to school - we are a little on the exhausted side. At the moment you are sleeping better but not fantastic, you are still waking and very restless and not sure why. Maybe we need to give it a couple more days so the melatonin can really absorb properly.

I think you may be getting a little iffy again but just not sure, cause it lasts for an hour or two and panic mode sets in and I need to get you to the doctor  and then you are perfectly fine, The hardest thing to deal with at the moment is you have vommitted twice within a week which means your nissen has come undone again
:-(    So what to do? Now daddy and I have discussed this and there is just no way we are going to put you or us through it again. The second time round we were lucky that they didnt have to open you up all the way and could do it laparascopically - chances are a third time ...... well I cant even go there in my mind. So lets hope its just a little congestion that has caused it and not severe reflux.

On a brighter note - you got your first tooth - YAY - taken you long enough  :-) ....... almost 22 months old now. I guess you are a late bloomer just like your sister -she only got her first one at 16 months old.

So yes I guess all that we have dealt with in the last three weeks has just been totally exhausting.

My little sweetpea I love you so so much and just to let you know I am loving every second, whether frustrated, happy, sad, exhausted, emotional, whichever ........ every single moment I get with you is just the best ever.

Love you pumkin pie