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, October 14, 2013

A few long and not so happy months

Helloooooo my gorgeous little prince. Yes yes I know I havent been here in a while and partly feeling really guilty and completely frustrated. Frustrated because something seems to have changed on this site and I battle to upload photos and to actually write to you because things just seem to become "Sticky" and I cant save or change anything


Anyway before I get entirely frustrated again, let me carry on while I can. the last few months have not been the easiest. Something happened to your sleeping pattern and up till about 6 days ago, we had kind of been lacking sleep for a while and we just couldnt seem to figure out why. During the day you were fine but at night you were cranky. We increased your feeds thinking you were hungry, but that just made it worse. We decreased your feeds thinking maybe you were getting too much and were uncomfortable. We thought maybe you were teething, constipated, or even just being a kid .... nothing seemed to work .... I think this is the first time that I have been entirely frustrated because we just couldnt figure it out. Daddy and I then decided it was time to take you to your doctor, maybe he could figure it out because heck knows we were completely out of ideas and enough was enough.

I have spent many a morning driving to work and finding myself crying and not knowing why. Now in hindsight I guess it was frustration and exhaustion. Yay something, we found something, not sure why we didnt register but yeah, I guess thats what exhaustion does to you. So your doc was happy with everything except for the fact that when he pressed lightly on your tummy you kind of flinched and drew your legs up. So straight away he diagnoses and acid build up. Well yeah it figures cause the one night or should I say early hours of the morning I connected your tubes and you pushed up all this acid. But it didnt concern me becasue it was only one night and it has happened many times and its never irritated you so we sort of ruled that out.

Daddy and I were so relieved it was nothing serious and that we could go home and give you some meds for a few weeks to resolve it and whaaaalaaa. BUT that wasnt to be, you stayed niggly and daddy and kept on saying to ourselves, give it time, the meds need a few days to work. Four days later was enough and we were back at the doctor. So by now your chest was a little iffy, but pretty much normally what it is, so nothing to worry about but your doc wasnt taking any chances. We got you straight onto antibiotics and for the next two days you were back to my happy little pumpkin. It didnt last very long but those two days were pure bliss. By Thursday night you were snottly and phlegmy and it was too late to get you to the doctor. I toddled off to the pharmacy as we always have a back script of meds for you ..... well normally we do ..... that wasnt to be either. At this point I just wanted to sit down in a pit and hope that it would swallow me there and then. Fortunately we have a wonderful pharmacist who actually gave me all your nebs meds without a script - Thank you Heavenly Father for your angels - Mommy pumped you with the nebs and you most definately werent happy but you had a relatively good night, and when I say a relatively good night, you still woke up and were still niggly but no where near what it had been.

Friday to Sunday you were fabulous and back to yourself again, and then Monday rolled on - NOT SO GREAT - so off to the doc again and this time treating you at home was just not going to happen. By this time I just could not control any tears flowing down my face and quite frankly I just didnt care who saw me or what people thought - I think sometimes being tired has its benefits - A whole lot of tests were run, bloods, xrays, mucous, urine, stools and and and although it sounds a heck of a lot to parents with "normal" children - yeah you guessed it - its NOT normal but its OUR normal. FINALLY a diagnosis - bacterial pnuemonia and oesophogitis - an infection in your oesophogus and let me tell you this was not pleasant - this infection made your breath smell like your insides were rotting - but thanks to another angel of yours - yep your doctor - it was nothing that two different antibiotics 4 times a day couldnt fix !!

So we are back home and so far so good - lets keep it that way my sweet little boy - dont think I could manage another crappy week for a while. Love you to the moon and back.

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