At our 12 week scan we had the routine blood test they offer, where they test for Down syndrome, Edwards syndrome and Patau’s syndrome. We had this with our son born the year before.
The next day I received a phone call, telling me the blood test had come back as “high risk” for Down syndrome and they wanted me to go in that day to talk to a consultant. I went with my Mum, as Nick, my husband works unsociable hours, at this stage I was worried but not too worried as it was so early on in the pregnancy.
We went to the foetal medicine unit and spoke with a dr regarding our options, my Mum questioned what had caused this risk and they said the test showed I had a low PAPP-A which is a hormone that can cause growth problems later on in the pregnancy. It is a soft marker for Down syndrome. Our “risk” was a 1 in 70 chance. At this stage I felt ok, I kept saying 70 is such a high number. The consultant went on to offer us an amniocentesis – I declined straight away due the the risk of miscarriage. She spoke to us about a non invasive pre natal test, which was a blood test that could give us a 98% accurate result, only it wasn’t available on the NHS yet, privately the test cost £450.
I went home with all the information and spoke to my husband. I don’t know why but I just needed to know, our decision wouldn’t have been affected by the outcome but I just had to know.
So we spoke to my parents who agreed we should have the harmony test, we booked in for it at 16weeks where we also had an early gender scan which showed our baby girl.
It was a long 2 week wait for the result, but I got the phone call and the man just said the test came back positive for Down syndrome.
That moment hit me like a ton of bricks, yes it was just a screening test and not a diagnosis but I wasn’t going to have that perfect little girl I had longed for, I would say to Nick it’s ok she might come out ok and Nick would say she won’t, it’s us, we have bad luck. I cried for around 3days on and off, I grieved for the little girl I thought I was going to have, the little girl who looked like her mummy. From that moment we knew our baby was going to have Down syndrome, anything else would be a bonus. We rang the hospital and told them and they arranged for all of our scans to be in the foetal medicine unit.
At our 20 week scan they found 2 holes in our baby girls heart, excess fluid around the brain and she was showing a tiny nose – again all soft markers for Down syndrome. We were given information books, I was offered counselling, I didn’t read anything, I didn’t take the counselling, I just googled stories of people who had had a “high risk” but their baby came out ok.
At 29 weeks Bella’s weight had dipped, this was due to the low PAPP-A. I was scanned weekly then where Bellas weight dipped and gained over the next 10 weeks. Finally at 37 weeks the consultant was happy she was “cooked” enough and booked us in for induction the next day, Bella arrived on Friday the 20th January 2017 no complications weighing a tiny 5lb 7oz, the moment she was placed in my arms, I could see the Down syndrome, it was there as plain as day, but that rush of love and protection came straight after, she was my perfect baby girl and I instantly felt guilty for feeling sad during our pregnancy.
Bella was our miracle baby, we had fertility treatment to get pregnant with my son, and I fell pregnant with Bella naturally when he was 5 months old.
Down syndrome is still seen as a negative thing and it really bothers me, the only way I can describe it is like you go to the ice cream shop and you have your heart set on mint chocolate chip chocolate-waffle cone, only when you get there they don’t have it so you have to have something different, you are a bit disappointed at first but it tastes just as good and it’s not the end of the world.
If people only knew a bit more about Down syndrome maybe there would be less terminations. 90% of pregnancies in the UK are terminated with a high risk of down syndrome and that makes me so sad. People with Down syndrome can go on to lead completely normal independent lives.
We have only had one negative interaction, at the hospital when we saw a different consultant she was confirming things with us, she asked the baby has trisomy 21? I replied yes and she was stunned and asked “are you keeping it” I said yes.
We haven’t had any other negative interactions – when people meet Bella they tend to fall in love with her – it’s hard not too, I know we will have these negative perceptions to come but at the moment that’s all.
Raising a child with special abilities means when a new milestone is reached you can laugh, you can cry. I see the hard work Bella puts into simple tasks such as holding a spoon, the first day she did it and fed herself I cried. Her first steps back in May, were so special because she has to work extra hard to build her muscles up.
Makaton is an absolute joy, we all use makaton in our house, Bella communicates using makaton and speech, her speech is coming on so well.
When she uses her little voice to say bye, it melts my heart every time. To see the bond she has with her older siblings is amazing because they don’t care that she has Down syndrome, they probably don’t even know any different.
Proudest moments, the day we went for her heart scan and they told us her holes had closed up, that in itself is superhero powers right there. The day she took those first unaided steps, and sitting up. Bella didn’t sit up until she was 18 months that was a big one for us.
With regards to Bella’s future, she will be brought to believe she can do/be what she wants to be and we will encourage and support her to work towards her dreams. And I hope she can work hard to achieve what she wants.
Bella loves to eat, food is a big motivator, she loves music and dancing, she starts ballet classes in September. She loves to read stories and have a snuggle and Mr Tumble is her all time most favourite person.
Bells development is slower than a typical child of her age, she is a new walker at the age of 2 and a half, she isn’t ready to be potty trained yet. She is developing at around the age of 18 months physically and mentally. Bella is a quick learner, she learns well with hand over hand, this includes her signs. I know that gap will probably widen with age but at the moment she isn’t too far behind. Physically Bella can’t walk for too long as she is only just sturdy on her feet and can lose her balance quite quickly. She also doesn’t have much awareness, especially with roads etc but she understands the word no, and stop.
Written by Jessica Gould.