Essential Baby member Danni with daughters Paige and Summer.
My first pregnancy was a surprise. Even though my husband Rob and I were trying to conceive, I didn’t expect it to happen as fast as it did. We were so happy to find out we were expecting our first child in October 2005. At my first obstetrician appointment, my doctor explained about the NT (nuchal translucency) scan and blood test and told me that I could have this test to see what my risk was for having a child with Down syndrome.
I decided to have it, not necessarily to find out about Down syndrome but because I really wanted to see my baby. The earliest ultrasound available to me was the routine 18-week one so I decided to have the 12-week NT scan. I saw my little baby for the first time and was glad to see it was happy and healthy, jumping around like a little bean. I was a little anxious as I had a bit of spotting at nine weeks but all was fine. The sonographer explained all the parts of the baby for me and did the necessary measurements.
Then, at another obstetrics appointment a few weeks later, my doctor said he had the results of my screening. What I was about to hear shocked me beyond belief. He told me that my risk for Down syndrome was 1:433 based on the scan, but after the blood test results were combined with the scan results my risk had been adjusted to 1:53. I couldn’t believe what I was hearing - after all, I was only 32. How could this have happened to me? I was of the understanding that women over 35 had kids with Down syndrome, not young women like me.
I was offered further testing but decided not to take it. For two reasons - one being I didn’t believe in termination for Down syndrome and the other, I was in complete denial. I went home feeling it was all a mistake and I wouldn’t be the one out of 53 women to have a child with Down syndrome. Fast-forward to my 18-week scan and I had completely forgotten about the high-risk result. I had pushed it out of my mind and tried to enjoy my pregnancy.
The scan was going well and all measurements were on par for the gestation. The only thing concerning the sonographer was the baby’s heart - he couldn’t see a good picture of it because the baby was in a funny position. He could, however, tell me that we were expecting a baby girl. I was on a high for the rest of the day, until a phone call in the afternoon from the midwife at the local hospital turned my happiness into sadness. She said there were some markers for Down syndrome on the scan, one being a possible heart defect and another being shortened femurs. The midwife and obstetrician wanted me to go into town for a detailed scan and an amniocentesis because I was almost 19 weeks and if I wanted to terminate, it would be tricky to do so after 20 weeks.
I spent the entire day at work the following day feeling like my world had come to an end. I wasn’t concerned about her having Down syndrome, I was concerned about the heart defect she might have. The health professionals were trying to push me to have testing when I was clear I didn’t want it. I loved my child regardless of an extra chromosome. When I went in to chat to the midwife I could feel Paige kicking me. There was no way I wanted to end my pregnancy.
Subsequent ultrasounds at 35 weeks and again at 38 weeks did show that Paige’s femurs were measuring behind. The possible heart defect became a definite heart defect, and she was small for gestational age. Again I was offered an amnio at 38 weeks but felt that if I had waited this long to find out if she had Down syndrome, an extra two weeks wasn’t going to make a difference.
By this stage I had transferred to The Royal Women’s Hospital and had met with a paediatrician who explained what would happen after the birth. My baby would have to spend some time in the special care nursery, have a blood test to confirm the diagnosis of Down syndrome and an echocardiogram to determine the heart defect. I went home feeling a little better but I was still in denial.
I had my last obstetrician appointment when I was 39 weeks and five days pregnant. My obstetrician said my cervix wasn’t ready but the next morning, after an internal examination, I started getting period-like pains. By the early hours of October 19, Paige’s due date, I was in labour so off to the hospital we went. I was admitted to the high-risk labour ward and monitored throughout the labour. Again the midwives and doctors told me what would happen after the birth.
At 3pm, I felt the need to push. After pushing for two hours she wouldn’t come out because she was still high up so I was prepped for an emergency caesarean section. At 6.18pm, Paige Lily was born. After they wrapped her and put her on my chest, I looked at her and couldn’t see any Down syndrome features. Sure, she was puffy but that was about it. I was still in complete denial that there was anything wrong.
She was taken to the special care nursery, and I went to recovery and then to the ward. It was like a dream. It was like I never had a baby as she wasn’t with me. The following morning, Rob and I went to see her and the paediatricians told me the preliminary results from her blood test showed she had Trisomy 21. I told them I wasn’t worried about that, I just wanted her heart to be OK. An echocardiogram later revealed a small ventricular septal defect.
I didn’t care that she had Down syndrome, she was my beautiful baby girl and that’s all I saw. I didn’t see the features. She has an extra chromosome, so what? I say that makes her extra special. Before conceiving our second daughter, we saw a genetic counsellor who explained to us that Trisomy 21 is not an inherited condition and we had a one per cent chance of it happening again. It was no one’s fault, it was just something that happens - just one of those things.
When I found out I was pregnant with Summer I had some genetic counselling. My risk was going to be higher as I already had a child with Trisomy 21. I had the 12-week NT scan and my combined result was 1:4380. That result was enough to convince me that I wasn’t going to have any testing. All the measurements were right on track and once I had my 18-week scan, the risk was subsequently lower. There were no markers for Down syndrome and all looked good with her heart.
Paige is now almost four years old and is a cheeky and happy-go-lucky girl. She loves to dance, especially to The Wiggles, and she loves her little sister Summer. Actually she is quite the little bossy boots, yet she has such an engaging personality. She does things that other kids her age do although she did reach a few of her milestones later than other kids her age. Her parents and grandparents don’t see the disability - we see the little girl first and the Down syndrome second.
Sometimes it’s not easy being the parent of a child with a special need, but then again, is it easy being a parent of a child with no disability? I do worry for Paige a lot. I worry for what the future holds for her. I worry about her health. She recently had to stay in hospital for two weeks with pneumonia, one of those weeks being in the intensive care unit on oxygen, but apart from that her health is good.
She is an independent little soul and that is one thing I wish for her - to be independent when she grows up.
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