A little star: Trisomy 18 or Edward's Syndrome
I thought I would start a blog about our amazing daughter Elodie who has Edward's Syndrome (photos below), because when we got our diagnosis, reading accounts from other families was far more helpful than any of the terrifying statistics and medical jargon that comes up when you search it up online.
I say 'our' diagnosis rather than 'hers', because it has changed all of us and our lives forever, in many ways! My hope for this blog is that is can give people some information about having a child with Edward's, an insight into our lives, and most importantly give a parent out there a glimmer of hope.
The prognosis for Edward's Syndrome is not good to put it lightly. An extra copy of the 18th chromosome causes various things to happen, and it seems to affect different children in many different ways to varying degrees of severity. The average life expectancy is about 2 weeks, and many babies don't make it to birth, either because of complications caused by the condition, or because the parents end the pregnancy due to the awful complications that can occur. Most babies have a heart condition, are very small, and other markers include crossed fingers, a small jaw and 'rocker bottom' feet.
Part 1: Pregnancy to diagnosis (long version!)
Elodie is now 8 months old, and we count ourselves very lucky as her health so far has been relatively good. Nearly all babies are screened for the three main trisomies (Down and Patau being the other two) early on in pregnancy, and our screening came back low risk so we didn't think we had anything to worry about in that regard.
At the 20 week scan, the sonographer saw a small hole in the heart, which as weeks went on and we had many more specialist scans, turned out to be far more large and serious than originally thought. We were told she would definitely need at least one major open heart surgery in her first year of life.
Around 24 weeks, they also noted that her growth had slowed down and as the weeks and many scans went on, she was measuring further and further behind. As we approached our due date, her tiny size and the fact that she was not a very active baby meant I had a close eye kept on me with ECGs at the hospital every other day keeping track of baby's heartbeats and movements.
My husband and I had previously lost two pregnancies, and I have also met and worked with people with a huge variety of disabilities, as well as having a brother with a severe learning disability, so we weren't totally naive to the fact that a lot can go wrong with a baby! We talked a lot about it and tried to mentally prepare for something going 'wrong'.
We were strongly advised to bring her birth date forward to a maximum of 37 weeks, not a day further, due to the increased risk of letting such small babies stay in utero past this date. She was born via a planned Caesarean, an experience that was miles away from our original dream of a home water birth, and she weighed 3lb 8oz. After a very quick kiss hello, she was whisked away to SCBU for some oxygen and had a feeding tube fitted so she could have the colostrum that I'd collected prior to her birth. My husband was able to go and be with her and hold her hand in the incubator while I waited in our room on the maternity ward for the effects of the anaesthetic to wear off. Amazingly, she only required oxygen for about 20 minutes, and after a couple of hours, she had settled enough for her incubator to be brought into our room and next to my bed. We were even able to take her out (very carefully) and have some skin to skin time.
Our room seemed to be a never-ending carousel of doctors, nurses and specialists coming in to take blood from the baby, feed her down her tube, ask us questions and give us information we can't necessarily remember. But we will always remember meeting her wonderful Paediatrician who came in and explained that there were a few things about Elodie that could be markers for a potential disability, including a small jaw and a single palmar crease. I had also noticed that her index fingers seemed unusual to me, at a funny angle. However of course, to us she was perfect! The Doctor explained they were sending off for some genetic testing which would take 2 working days to come back. Being a Thursday, it meant that we had to wait until the Monday to find out!
Monday was my birthday and we had a very long day in SCBU trying to sleep, trying to eat, having short cuddles with our baby and mostly just waiting anxiously for news. Elodie's paediatrician finally arrived at 5pm and sat us in a little room with two nurses. When she told us that she had Edward's Syndrome both of us broke down in tears immediately, as we had read about the condition. Looking at her tiny perfect face all bundled up in the middle of the room, it was just heart breaking and unbelievable.
Later we went outside for some fresh air (it's hot in SCBU and being extremely stressed we needed the cold January air) and sat on a bench on the hospital grounds. We looked at each other in disbelief and looked at the stars, wondering what to say. There wasn't much to say but we did decide straight away to give her the best little life we possibly could, however long or short it would be. We decided then to give her a middle name which means 'star', so that no matter what happened, we could always look at the stars and know she was with us.
It was an incredibly hard day, but not the worst day! However, it wasn't by any means the end of her journey, just the beginning. So I will save some more of her story for another day and another post and just end this one by saying: although we were blindsided and heartbroken by her diagnosis, we also count ourselves extremely lucky to have such a special little girl! She has just had her 8 month 'birthday' and we are so grateful for every day spent with her.