nuchal

Discovering Downs Syndrome

I’ll start from the moment I felt broody. We had got the 2 boys, we had always said 2 is enough and we won’t have anymore. I just felt my clock was ticking. I asked Carl to think about it, but if he said no that wouldn’t be a problem because it has got to be something we are in agreement on. It took him a few days to ponder it, but he came back to me and said yes. One more won’t make that much difference. So I didn’t go for my injection and my period came a few months later. By the 3rd period was due I was pregnant. I knew pretty much straight away, and Carl did too, he has never been wrong, he has always known.

I got a different feeling about the PG this time though. I had this odd feeling it was going to be twins. I just knew that something was going to make it harder work than the boys. I can’t put my finger on what made me feel that was, it was just something I knew. I hadn’t thought of anything to do with disability, why should I??? there has never been anything in either family, so it never crossed my mind.

We arranged the ante-natal appointments, then there was the dating scan. The sonographer quickly did the dating, which was 10+3 weeks and then started to take a little bit more time, scanning and measuring, scanning and measuring, even then I didn’t think anything was wrong, I just made sure there was only one in there. She made me a follow up apointment for the following week, she muttered something about she couldn’t get a measurement on something.

On the way back to the car, I said to Carl, they must be hecking for the nuchal fold, it was something new, a new way to detect Downs. That was the end of it. We went back the following week, when we went to book in, the nurse behind the desk, said “oh you are booked in to have a scan with the consultant”. Well I have never seen a consultant with any of the other pregnancies, so little alarm bells started to ring.

So again, they measured and scanned, measured and scanned and measured and scanned. Then they told us that baby had a large nuchal fold measurment. They listed what it could possibly indicate, things like Downs, Turners Syndrome and heart defects. The offered a CVS straight away, and could arrange and appointment in Birmingham for the following day, or I could wait until 16 weeks for an amnio. We chose to wait until 16 weeks.

I spent the 5 weeks looking and researching as much as I could about all 3 possible things, while I was at it I found more and more things. It opened my eyes to a whole wide range of what could be wrong. My measurement wasn’t even that large, it was only 4mm.

It was odd, a lady I knew was also going through the same thing at the same time, she had made up her mind to not continue the pregnancy should the results come back positive for Downs, just as I had decided to continue the pregnancy. I totally respected her honesty and felt such empathy towards her. As soon as she got her all clear result, thats when I knew. I knew in my heart of hearts that my results would come back positive with something. But I wasn’t scared. I wasn’t afraid. I knew that me and Carl would be OK.

I got the phone call, she said, “I’m sorry its not the result we were hoping for”. All I could ask was, “is it only T21????” She said “yes” with a puzzled sound to her voice, and I sighed with relief, “well thats OK then”. I had found out so many things that were far worse than Downs, that Downs would be the easiest problem to deal with.

An appointment was arranged so they could give us “our options”, obviously the 1st thing I said was, we are keeping the baby. The information they gave us was pretty poor really, I had found out more myself.

Then we had the great fun of breaking the news to our families. It was so hard to tell them and still smile. There was mixed responses about it, from smiles to asking if we are terminating the pregnancy.

A week or so later we had the full results through, and we also had a request to see the geneticist, they had found something and would like us to have blood tests. When we went to collect our results, they had found a translocation of the 13th and 14th chromosome, in Carls DNA, they had noticed the same thing in babys results and that was what alerted them. This transolcation actually made us high risk for pataus syndrome (T13) we should have been high risk for many miscarriages, if we did manage to carry to term, the baby could die within the 1st month of its life. This was something that made me thankful that again it was “only Downs”. We have said we will let the boys be tested when they are older, just so they can prepare themselves. Just in case.

In the meantime, I was still trawling the net to find out as much as I could about Downs. My anomoly scan was coming up, and I had already found out a percentage of babies with Downs had congenital heart defects. They did all the measurements and then spent a good bit of time on the heart. Both me and Carl were holding our breaths, we looked at eachother, I we read it in eachothers eyes, we knew there was a problem. Thats when we we transfered to Birminghams care. The later part of the PG was endless trips up and down to Birmingham Childrens Hospital. We were told the 1st time we went, baby had AVSD, so again, I looked it up on the net. OK it can be repaired. The next time we went, it was an exstensive AVSD. the 4th time we went, thats when they told us about the tetralogy of Fallots. This was the point I started to get scared.

I saw a teddy with a 4 leaf clover on, and I had to buy it for the baby. Every other appointment we went to “Lucky” came with us. When we took him we got good news, when we forgot him, we would get bad news. He was babies good luck charm and still is.

I had my off days where I wondered if I was doing the right thing, or was I being selfish. I felt guilty too, I had terminated 2 healthy PG’s. So was I being punished for that. Or was I being tested to see if I would go through it again?? But then I had more positive days. I was hopeful that things would work out OK. I wasn’t under any illusions that they could be wrong. I had already known there was something different, something more difficult.

We went for regular growth scans, it was nice to see baby regular, we only ever had the 2 scans with each of the boys. We still didn’t know the flavour. We had said we already know so much about baby, we would like at least one suprise. We went for what would be the final growth scan, baby seemed to have stopped growing. Thats when they mentioned a c-section. I flat refused that, my birth plan was already ruined cus I wanted a home birth again. I knew I would be strapped up to monitors because of them wanting to keep an eye on babys heart rate. So I agreed to an induction, 3 weeks early. We only had a few days to get everything ready. We had a look around the neo natal area, there was a possibility depending upon the condition baby was born in, that baby could be taken straight down to the neo natal area. All I worried about was would they let me have a cuddle before they took baby away.

We went home and got the bags ready, one for me and one for the baby. We sorted the boys out so they could stop at their grandparents. It didn’t take long for D-day to come.

In the morning I woke up, I was full of nerves. Today was the day I would finally be meeting the baby I knew so much about. I was frightened, I was scared about whether or not I would love the baby straight away, what if I couldn’t bond?? what if the baby was deformed?? The thoughts I had running through me head just made me not want to go for the induction.

We dropped the boys off and I gave them huge kisses and cuddles. We had been honest with them all the way through the PG about baby, they knew the baby had got Downs although they didn’t know what it meant, and they knew baby had a poorly heart so that could mean mummy might be in hospital for a little bit longer after baby was born.

We arrived and they inserted the pessary, my mind was still in termoil as to what was going to happen. Although I knew the characteristics of Downs, I still didn’t know what to expect, I was afraid, I was very very afraid. The labour progressed. We were watching the monitor for any little blips with her heart, and it dropped right down twice during labour, they said baby was probably gripping the cord and nothing to worry about. Then there was the birth, I am so glad I had had other births before, because when babies heart rate dipped dramatically and we had to press the emergency button and all the doctors & senior midwives come in in a panic I knew I had to stay focused. Carl had just enough of a peek to be able to whisper to me “Its a Girl” with his eyes welling with love, joy and pride.

When she was born, she was so blue, they took her straight over and started to pat and rub, and gave her O2. Those few mins seemed to take forever, I’m sure my heart didn’t beat once while I was waiting. Already she was my little girl and all my worries about if I would love her or not had gone, just cus of those few moments when I thought she could be taken away from me forever. Then she cried, My body flooded with relief, they finally wrapped her up and handed her to us. Immediately we looked for all the signs of downs, and we found them all. but underneath the Downs we saw her brothers in her, she was beautiful. I loved he so much.

Holly a Day old
Holly at 1 day old

The next 5 days in the hospital dragged, I hate hospitals so much. She had check after check, echo after echo. I just wanted to take her home. I was in the ward with all the other women, I watched them come and go. One lady come in aftera c-sec and was such a drama queen, she wanted to go out for a smoke only hours after having the c-sec. One baby was nearly 10lb, one had a huge mop of hair. All of them were “normal”, I felt really alone, I didn’t feel ashamed of Holly, but I did feel isolated by it at first, I just got on with looking after her. She fed quite well and slept even better. Then some of the other ladies came over for a chat, and thats when the subject arose. Again I feel so thankful I knew before hand. Keeping her was our choice, she wasn’t forced upon us to deal with like it happens with so many other babies with Downs Syndrome. We chose to keep her no matter what.

We finally got to go home, emotionally I think thats where the problems started. So many people came to see her, I know deep down they cared, but it still felt like people wanted to come and see the freak show. I know these feelings were normal, but it still isn’t nice to feel that people are only coming to see you and you baby just cus she is different. It was the same when we first took her to school, because we told a few of the mums, just so they could spread the word to save us having to explain all the time, we were mobbed by everyone, again how I felt at the time they were all just wanting to see the freak show.

It just made us both all the more protective of her.

Holly has had a rough journey so far in her 6 years of life. But she is a happy, sweet (but stubborn) little girl now. She likes to play with baby dollys, and sing and dance in the shadows, she likes to watch Peppa Pig & Mickey Mouse.

Holly is able to make the grumpiest of people smile. She is special, she is wonderful, she is MY daughter.

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