Diagnosed with Down syndrome

When I found out I was pregnant on the 30th March 2005 I was scared, we had already lost one baby “Angel” when I was 21 weeks pregnant, due to something called Triploidy (a whole extra set of chromosomes) I didn’t want to loose another. Triploidy, is a rare chromosomal abnormality, they had confirmed it was not genetic we were just unlucky.

Pete and I decided that if there was anything wrong such as another triploidy pregnancy we would want to know, plus we wanted peace of mind also to know that everything was all right.

I had already had about 3 early pregnancy scans before it came to the routine 12-week scan. I told the sonographer that I was going for a nuchal fold scan the following week and she had said everything looked fine. This put our minds at rest, thoughts of why shouldn’t everything be alright, were weren’t that unlucky were we!

My bloods had come back and they looked excellent, the consultant just said it was a case of checking that everything was in the right place and taking a measurement of the babies neck (Munchkin, we had already given him/her a nickname). The first thing the consultant noticed was that Munchkin hadn’t got a nasal bone. Apparently 10% of the population do not have nasal bones. Although not having a nasal bone was a indicator of down syndrome. He then measured the babies neck and it was 3.6 (the norm is 2.8). Everything else looked fine. He took us into a room and all we could think was why is it happening again, not to us, maybe he’s got it wrong.

The consultant came in and explained that we had a 1/61 chance of having a baby with down syndrome. We were devastated, at that moment I just wanted to curl up and go to sleep forever. Why was this happening again? Had we not been through enough?

After crying for what seemed an eternity, we looked at it logically this little baby was still alive and kicking inside me there were plenty of couples out there that couldn’t have children, we had been given a gift from God and should accept the baby with open arms. And there was always that chance that we could be 1 of the 60 other people that would have a child that didn’t have down syndrome.

We toyed with the idea of having the amnio but again we didn’t want to loose this baby and with an amnio there is always a chance of miscarriage. If we did know, what difference would it make we still wanted our little munchie.

We grew very close to munchie and her/his kicks, punches and hiccups.
We had scans every 4 weeks to keep an eye on munchies growth and she/he was doing just fine.

They took detailed scans, they checked the heart which appeared to be fine. Munchies kidneys however were dilated. We were told again this was another indicator of down syndrome. They kept a close eye on munchies kidney the measurements grew slightly but nothing to be extremely worried about.

We had made the decision to tell everyone about the risk, I think looking back it helped to prepare people. Well it helped us to come to terms with what might be. There was always that thought that maybe munchie wouldn’t have down syndrome but deep down I think I new.

I worried throughout most of the pregnancy, not because of the risk but I was constantly afraid that something new would appear on one of the scans. I bought myself a Doppler to keep an eye on munchies heartbeat, I loved to listen, it was so soothing. Although I tried not to listen too often as it could have become an obsession.

Although I worried a lot through the pregnancy, I also enjoyed carrying a little baby inside of me, feeling the kicks and punches. I loved the way people who I didn’t know would come up to you and ask how long you have left. I loved the way I was made to feel very special, I loved the excitement and joy that family members and me had in preparing for the arrival of munchie.
Most of all I loved the fact that I was soon to become a mum.