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CVS and the diagnosis

After talking with my partner we turned up for the appointment for the CVS on the Monday. Both of us worried about the possibility of miscarriage but neither of us wanted to not know what we were dealing with. At this point we we still thinking our little one had Down Syndrome and had almost come to terms with that. The consultant made us feel at ease during the procedure and Steve watched the whole thing on screen, I had decided to look away at this point having seen the needle. He later told me that our baby had turned towards the needle as if to say 'What the hell??' as it was inserted!!

After a short rest I was scanned again to make sure all was ok, we were told that baby had been unaffected and was happily swooshing around in there as if nothing had happened. We went home to wait for the results. I can't begin to describe how hard that week was, we were both emotional all the time, and whilst I sought solace with my friends online my partner kept himself to himself and just dealt with it his way. I used the waiting time also to research Downs Syndrome and also Edwards’ and Patau’s Syndrome, two other possibilities that we had only been told about during the CVS procedure. When the phone rang later in the week it was only to tell us that the results were inconclusive, my own cells had mixed with that of the baby and so now they had to grow a culture which would take another week. We waited again.

The phone call came four days later, I was on my own again as my partner had gone to work and from the way Maureen had started to talk to me I knew the result was positive, and my baby had Edwards Syndrome (also known as Trisomy 18). I had kind of prepared myself for the worst but actually hearing it from someone else was awful. I listened calmly and asked all the questions I could think of, the last being 'Is it a boy?'. Maureen said we were expecting a little boy with full Edwards Syndrome, and he was not expected to even survive the pregnancy.


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Liam was diagnosed with Edwards Syndrome (T18) at 15 weeks, we were offered a termination but decided against this and to let Liam choose his path in life. Liam was born 9 weeks early, weighing just over 2lb and fought for all he was worth for 23 precious days before growing his angel wings. This is his story...

This was originally published as a blog during my pregnancy and Liam's short life. I have kept it in its original form as it tells the story so much better than I could now.


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