Trisomy babies

No problem at all

1. Trisomy is generally a genetic thing. You get three versions of trisomy 18, full trisomy (the most severe) this is what Lior has - this is generally just a once off freak split of the cells and each and every cell in the body has the extra chromosome. So having operations and all that will not change the outcome, that is why we opted for comfort care, They say that there is less than a 1% chance that you would have another baby with this. Partial trisomy - generally either one of the parents will be carrying the gene and you could have more than once child with this. Then there is Mosaic trisomy - children with this will only have an extra chromosome in some of their cells, they generally live longer and have less complications.

2. Normally at 16/17 weeks pregnant you would have blood tests for down syndrome. When I had my checks for the nuchal fold and all the soft markers, they were all fine, it was when I had the downs blood tests that it came back with a chance for trisomy 18. We went to a specialist and had an amnio and had to wait three weeks for the results.

3. Lior is not in any discomfort. he is a very happy baby and generally has the niggles that a normal baby would. We do battle with consitpation so we give him a natural laxative every day and this helps. The only time he is not comfortable, is when we change his feeding tube. He is not on any pain medication, only the normal of ponstan/panado when he has a fever or is niggly.

4. Dont get me wrong, there are many moments of frustration and tears (which makes you stronger), and I do ask why, although I try not to and know that I need to accept that Lior is what God has given us. I think the thing that helps us through is we came to the conclusion "how can you mourn someone that is still alive" Lior is alive and well and we celebrate every day with him. The fact that he is a happy baby and not really sickly also helps alot. The fact that we have the most amazing family and friends that have supported us with everything they have also makes a world of difference. Even when we go out strangers cant help but want to hold and cuddle him so I believe he is here for a purpose. His name means "my light" and boy does his little light shine. He has brought my father an I closer together (never had a good relationship with him). Even here at work he has changed so many people's perspectives/lives on many things.
He really is our little miracle baby.

Butterflies - thanks so much for the information, I am sorry I cannot read your blog (past the first page) I will try again today.

I really know nothing about Trisomy 18 / Edward Syndrome and have never heard of it before now, I hope you do not mind if I ask some more questions.

I know I can google it, but maybe my asking will also answer someone else's questions who might not want to ask.

1. What causes Trisomy 18 /Edward Syndrome ?
2. Is it something that the OBGYN regularly checks for during the early scans, or is it checked for because there is a marker/sign that it might be there?
3. Is Lior in any discomfort i.e. is he pain managed, or is he just a normal little baby with all the normal little niggles that babies have?
4. How do you cope with what you have to deal with and the possibility of the possible inevitable? I try to consider how I would be in your situation, and the answer is probably "not very pretty" - I would probably be lying on the fall sobbing "why me? why me?"

(But I might be missing much as I said, I can't read your blog)

Hi there reluctant mom - my little boy has Trisomy 18 or more commonly known Edward Syndrome which means he has an extra 18th chromosome. Doctors and experts will tell you that this is incompatable with life. Babies with Trisomy 18 have a lot of complications and according to doctors a lot of deformaties. My little boy has a cleft palet, slight club foot and slight rocker bottom feet. He has a hole in his heart and one of the valves does not close so also pushes his heart murmer of quite dangerously high, His heart is also displaced. His little lungs are black due to lack of circulation, but there is nothing we can do about this, it is because of the syndrome. Fortunately his kidneys are fine. Generally the diagnosis is always Death. 90% of babies die before birth or generally a few hours after birth. Only 10% live to their first birthday, So we are very blessed to have our little sunshine for the past 8 months. The doctors have given us a life expectancy of 18 months, but with a lot of love hope and prayer, we are begging for more time.

Butterflies, I am really struggling to upload the blog via pampers - I must confess that since the new system came along, I have often found I sit ages to upload.

I read the start and then struggled to get it to upload past that - any way of reading it anywhere else.

For the ignorant i.e. me - can you explain what a Trisomy baby is?

Butterflies, u r such a great mother, i mean your whole family are amazing people.

keep up the spirit, God will never let you down

Hugs

Butterfly@your story is inspiring and heart warming, thank you so much for sharing. I look foward to reading more of your journey.

Well in this case it's lucky for Lior that you be the higher power!!! Chicks!! No scratch that MOMS are a force to be reckoned with!!