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, April 7, 2011

12-10-10

Feeling like i have been dragged through a bush backwards today -definately taking strain.

It is scary how children can get sick, literally over night. We went to visit Jacqueline on saturday and had a lovely day, no indication whatsoever that you were not feeling so great - you were your normal happy bubbly self. On Saturday night you were niggly so we did not get much sleep and then on Sunday you just didnt stop screaming to the point that you kept on losing your breath and then being completely pooped. We would get you settled for an hour or so and then it would start all over again. We took you to your paed on Monday and you still screamed in the waiting room, but the minute we walked into the doc's office, you were chatting away as if to say, look at me I am fine - nothing wrong. Wish that were the case. Yet again you have developed flem on the chest and we have to nebulise you and put you on antibiotics . The doc says with Trisomy babies it is common to have the chest infections - my worry is that it will get harder and harder for you to recover from the infection every time you get one. He also held your legs and noticed how your one little leg shakes, as if you are resting it on a nerve, he says it is a common example or sign that you are not neurologically normal. Although we knew that this would be one of the downfalls of your syndrome - but it does not seem that you are not neurologically normal, yes you may not be as advanced as other babies but your are learning. He was also amazed that you were "talking" and responding to us and like wow he can hear you and respond thats amazing. No, its not amazing, you are as normal and as perfect as can be !! Anyway we got you home and nebulised you, boy did you scream and at 5 months you are so strong that I battle to hold you. You were a little better after that, no more screaming. Gave you a nice bath and nebulised you again, this time I think you were just too tired to even bother fighting, even your llittle eyes were bloodshot. We fed you and put you to bed. You had such a good night, restful, and are all smiles again today. I am so glad we did not wait to see what was wrong. We just cant take any chances
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