Rosie is our second, much wanted, daughter. She just happens to have a bonus chromosome.
This is my story of the pregnancy and birth, and a tale of how a diagnosis is just one part of my daughter.
HIGHER RISK AT 12 WEEK SCREENING
Having had quite a few miscarriages, a ‘normal’ 12 week scan was a huge milestone. My husband and I weren’t all that concerned when the screening results for Downs Syndrome came back as 1 in 120 — I was still pregnant, that was all that mattered.
Pete and I had discussed in advance what we would do if we had a baby with a Down’s Syndrome diagnosis, and thankfully we were on the same page — that we would only terminate if there was a risk to my life. For us, Down’s Syndrome was not a reason to terminate.
The risk of 1:120 was lower than the risk of miscarriage from any invasive testing, and since it wouldn’t change the outcome for us, we put it to the back of our minds.
UNWELCOME HEART NEWS AT THE 20 WEEK SCAN
Because of the higher risk result at 12 weeks, the midwives offered us a consultant-led scan at 20 weeks.
We both knew the Consultant had found an issue when she took ages to look at the heart. Even me, with my rudimentary biology knowledge, knew that there was supposed to be four visible chambers. I could only see three. The atmosphere in the room was loaded, we both knew something was wrong, and just wanted to know what.
Eventually, the consultant told us that she saw a problem with our baby’s heart. She thought that it was a hole in the heart, and we were taken into another room to talk to a specialist midwife. That was our first (of many) experiences of being taken into a room to receive bad news. All I felt was panic and sickness. Knowing a little bit but without detail is an awful place to be.
FETAL CARDIAC SCAN AT THE EVELINA
This is where the NHS is really at its best. Our scan was on the Monday, and by Friday we were up at the Evelina for a fetal cardiac scan. Once again, I lay through a long scan in silence, my husband and I trying to break the tension with bad jokes.
You know you’re in for bad news when you’re taken into a room with pastel coloured walls, soothing pictures of the coast, and a shelf just the right size for a box of tissues. Sure enough, we were talked through the condition our daughter had, which was a complete AVSD.
A complete AVSD is where there is a hole across the middle of the heart, and instead of two lovely healthy valves, one flat valve that leaks. In terms of heart conditions that require surgery, it’s bad, but not the worse. We were reassured that she should be well at birth, although being told she’d go into heart failure at 4 to 6 weeks is pretty terrifying.
A complete AVSD typically goes hand in hand with a Down’s Syndrome diagnosis. It’s unusual to have a complete AVSD and not have Down’s Syndrome. Between 40–50% of people with Down’s Syndrome will have a congenital heart condition, and a significant portion of those will have a complete AVSD.
Such a diagnosis is life changing. We were grateful that our babies’ heart condition was treatable, but suddenly I was filled with fear and anxiety.
As a parent, it’s a safe assumption that your child will face a few health challenges, but will be generally well and able to make their own way in the world. Suddenly that was all in question. I didn’t know if our baby would make it through pregnancy, let alone the first year of their life and beyond.
Now, I look back with shame at my naivety for assuming that our baby would be fine.
Pete and I decided we did want to find out for sure whether our baby would have Down’s Syndrome. We paid to have the NIPT (non-invasive pre-natal testing), and we also decided to find out their gender. At the scan and blood test, the radiographer found that our baby did not have a nasal bone, and a few other soft markers for Down’s Syndrome. I still held out hope that she wouldn’t have Down’s, but I knew deep down she would.
I’m ashamed now to admit that I really didn’t want a child with Down’s Syndrome. I just wanted a healthy and ‘regular’ child.
The results were through on the Friday, the test showed a high ‘risk’ of having a baby with Down’s Syndrome.
I fell apart.
Whilst I still loved my baby, the depression and anxiety I’d been holding together until then, suddenly got the better of me. The rest of the pregnancy passed in a blur of depression and anxiety. The countdown towards birth was excruciating, I worried so much at every change of movements and every pain.
LOVE AT FIRST SIGHT
As soon as Rosie was born, I fell in love with her. All my fears and concerns vanished. It was immediate.
Rosie came out fighting, screaming and punching the air! Although she spent a few weeks in special care, she was mainly in to establish feeding, as well as recovering from jaundice. Rosie came home with an NG tube, as she wasn’t strong enough to manage all her feeds orally.
The next four months were tough, with several bouts of bronchiolitis, heart failure (which is even more terrifying in reality), open heart surgery, flu, more bronch, tube feeding, pneumonia… but three years on and that is in the past.
Rosie is a superstar. She may be tiny but she is the strongest member of the family. She is so laid back but we know when she’s not happy! She’s sociable, and each skill that she learns is like winning the lottery. Rosie is also incredibly strong, she bounces back from everything thrown at her.
When I was pregnant, I could not understand how some parents of kids with Down’s Syndrome would say they wouldn’t take the Down’s Syndrome away if they could.
Now, I agree entirely. I’d take away her heart disease and respiratory issues, but I would never wish her not to have Down’s Syndrome as it’s an integral part of who she is.
Rosie is wonderful, she is a blessing, she is an inspiration. She always sees the best in everything.
Rosie has never been a burden.
We are the lucky ones to have her in our life.