Our Down Syndrome Diagnosis part one
So I wrote this blog nearly four years ago. I wrote it in the thick of one of the toughest moments of my life. My thoughts and feelings about Down Syndrome are so wildly different now it’s actually pretty crazy…but this is how I felt in that moment, the moment I discovered my baby had an extra chromosome. So I wanted to share these blog posts from that time, to help others who might be going through this moment now and I hope you’ll find some solidarity in my writing. I can really hear my sadness and my fear in this blog and my complete misunderstanding about babies with Down Syndrome. I send my past self huge love and compassion for this time and I hope if this is your story now, you will do the same. So much doula love, it really will be ok xxx
Even starting to type this I still feel like I’m talking about someone else. I haven’t felt this way for a really long time, not since I lost a loved one. A piece of news so devastating that everything you ever thought was going to happen is just gone and you’re completely lost. Ten days ago I got a phone call that changed our lives forever.
When the phone first rang I didn’t recognise the number but I remember thinking, could it be the hospital? I picked up the phone and a lovely midwife named Monika asked me if I had time to chat. Yes of course, what could this be about? She went on to explain that my blood results had come back (the second part of our screening test, the first part being the scan which had all been normal) and I had in fact screened positive for Down’s syndrome and Patau’s Syndrome. At this point I was feeling shocked but thought well, it’s a screening test, my hormone levels are a bit high, it could be totally fine. She asked me if I could come in as blood work was being sent off by lunch and we could send the second blood test (the SAFE test) before the weekend. Anything to shorten the wait of not knowing so I went in, kids luckily safely down the scooter park with their Dad.
So I went in and shut in a tiny room with Monika, we looked at my results. They didn’t seem that bad after she explained them to me, all of them a bit low or a bit high but nothing too crazy so being the eternal optimist I thought, it could still be ok. So I had the test, was given a leaflet and went on my way.
That day I felt odd, so odd, like life was distorted somehow, wobbly, unsafe and because the kids were around in the afternoon, I waited til the evening to share what had happened with my husband. Then it hit me, HARD. Our baby might not be ok. Our dream of extending our family later in life, could all come spectacularly crashing down on us and I would blame myself. Of course I wanted another baby more than my hubby, he was happy either way, and I was too, my kids made me so happy I wanted more of them…so that’s why we rolled the dice before Christmas and we would let fate decide.
But it worked! and we were pregnant and it felt so meant to be. Moo having ALWAYS wanted a baby in the house, I felt like all our dreams were coming true. When I found out another friend was also pregnant with the same age gaps, it just felt even more right.
After the initial shock, the next few days wait was unbearable. Thinking about all the possibilities, the what ifs, googling too much, struggling to stay present, crying, numb, it was horrible. We had to try and stay positive though to keep sane, and I managed to find some chat room threads about women and their screening results. Women with the exact same numbers as me, and were fine, and others with the same numbers, who weren’t. We’d been told it was 1 in 2, so a very high chance but so had they…
I want to explore the numbers a bit for anyone reading this who is going through something similar.
The screening test looks at three main things, nuchal measurement (the neck fold), HCG levels (hormones) and PAPP-A level (placenta protein). Then they add in age and weight and get a calculation.
So my figures were
Age 40 / weight (for me to know)
nuchal: 2.7mm (anything over 3.5mm is noted)
hcg level - 82.3ng/ml
PAPP-A level - 1459 miu/l
Then they plot these numbers against the median to give a figure closest to 1, is what you’re hoping for.
Mine were
nuchal - 1.86 MoM
hcg level - 2.38 MoM
PAPP-A level - 0.57 MoM
So none of mine were that close to 1 but not miles away either…on further reading and investigation, I discovered that the hormone levels are wildly varied and can give inaccurate results and some people choose not to have the blood test at all for this reason and use the nuchal measurement as their guide. I also read that anything over 0.5 for your PAPP-A level was also considered in normal range.
So with my nuchal being the strongest result and one being tenuous and one being low, but within normal, it made me feel quite hopeful. However having read so many stories at this point, I knew it could go either way and it felt like the flip of a coin and our world would be ok or it wouldn’t.
On Wednesday afternoon around 4pm, I was sat in the bath, trying to find a bit of calm and my phone went. A good couple of days earlier than expected, was this good or bad I wondered? As soon as I picked up and Monika asked if I had a minute, I could just hear it in her voice, it wasn’t good news. She then went on to tell me that I had in fact tested positive for Down’s Syndrome with a higher chance of 95% but that Patau’s Syndrome had gone to highly unlikely to 1 in 100,000.
I was devastated. I hoped with all of my being that conversation had gone a different way and we could be free of this living nightmare but it had just got worse, much worse, there was only 5% chance of hope left now. I couldn’t really speak on the phone so I said I’d call her back when I had time to think.
Andy came home from the shops, I shut the kitchen door and told him and just sobbed into his shirt. It was so painful, our baby was sick.
The next 24 hours was a blur, we couldn’t think straight and kept bursting into tears. When I got the news, all I could think about was going to see my Mum and just resting my head in her lap for a bit. So the next morning, I decided to go and see her. That’s the thing about bad news, it’s really hard to inflict it on others too, you feel sick and awkward and nervous and on the drive over, I couldn’t stop crying.
I knew I couldn’t go to the door in this state so I called her and my Dad answered. I swallowed my tears and acted normal so he’d go and get her and then she said hi, are you ok and I lost it. I must have scared the life out of her. I told her I was parked outside and could she please come out. Of course she was there in nanoseconds, despite her broken wrist and I told her.
We cried, I sobbed and then we went inside to talk. And we talked and we talked and we talked. And it helped but it still hurt like hell.
The next couple of days were HARD. Starting to text friends and family, undoing the fun of of celebrating at 12 weeks, researching what a life with a Down Syndrome child would be like but still feeling removed from it. At the point of writing this, we’ve now decided to go for the amnio, as it’s the only 100% result you can get and I know my eternal optimist needs to know for sure or I’ll hold on to that 5%. So we now have a three week wait and our new normal continues.
Please reach out to this amazing charity if you are going through a diagnosis at the moment…they have really supportive facebook communities and helped me so much xxx