My T21 Story, The diagnosis.

Where do I even begin? Well let me start by saying this, while I sit here, admitted to the Royal Womans hospital in Melbourne, far away from home, friends and family, I find myself stressed, exhausted, worried, and scared. I want to share my Journey, my stories with anyone that wants to know how it feels to be in the position I am in, and how to overcome the craziness of it all. So Ill begin a Blog, a place to express how I feel and share my stories with you all. This is my T21 Journey. The diagnosis.

What seems like forever ago I remember the day I found out I was pregnant. I remember peeing on copius amounts of sticks and seeing 2 faint, but also very clear lines! A mix of emotions came over me, I was excited and scared for what this meant for myself and my future. I work with kids and I knew I always wanted my own! 

I began to tell close family and friends, and it really started to set in and the excitement overcomes any other emotions!

I figured I would have an "easy" pregnancy, after all I'm young, reasonably healthy, and have never had any health concerns in the past. Not once did I worry that something was going to go "wrong."

First of all I went for the routine dating scan, I was supposed to be roughly 7 week's and when I went for the scan I was expecting to see something floating around in my belly! But I couldnt see anything but that little black sack, the sonographer assured me it was early and nothing to worry about.

I had, had my bloods and routine tests to confirm the pregnancy and a short time later I recieved a call from the doctor asking me to come in.

The pregnancy hormone levels (Hcg) in my blood were low and the doctors believed I was having a miscarriage.

I had more tests done every couple of days over a period of about a week to ensure these levels started to increase, they did but very slowly, not the normal rate. I was rushed back for another scan as doctors assumed now I was having an ectopic pregnancy. I arrived scared as all hell to the appointment and as soon as the sonographer did the ultrasound I seen my little baby, floating inside that little
black sack! He was bigger and clearly in my uterus and fine!! Such a big relief, I was super excited and couldnt wait to continue my pregnancy without any stress!

The 12 week scan rolled around and I couldnt wait to see my baby again! He was beginning to look more like a human and not like a tiny blob and it was super exciting! 

The 12 week scan is called the NT scan, and this measures the skin fold at the back of the babies neck.

I also did a routine blood test the same day which measures the P-APP and Hcg levels.

The results of both of these are then put together to assess the "risk" of chromosome abnormalities, such as Down Syndrome.

Now, when I did these tests, I never once thought anything could go wrong, again I was perfectly healthy and young, friends assured me all would be fine! After all only people 35 or older had children with Down Syndrome! Well thats what I thought at the time.

I recieved a call again asking to come in to discuss my results, I walked in, not worried at all and to my complete and utter shock the doctor handed over the piece of paper that had printed in bold and clear as day "INCREASED RISK" at the top. 

She began to explain the report which stated I had a 1:32 chance of my baby having Trisomy 21, otherwise known as Down Syndrome. She explained my options which was to either have a termination because I would likely be able to concieve a "normal" child in the future, or to have an amniocentesis which would confirm the diagnosis and then to have a termination once we knew. I couldn't believe what I was hearing. I was upset and worried for my baby.

I spoke to a close friend who had been through a similar situation herself, who explained to me about another test called a Harmony, or a Generation test, this was still just a screening test, much like the NT scan and bloods, but it would test the placental dna cells in my blood for any chromosome abnormalities and it was supposed to be very accurate. 

It was an expensive Non Invasive test that I would be able to do straight away as apposed to the Amniocentesis which is an invasive test where a needle is inserted into my tummy, and into the sac, it then takes amniotic fluid from the sac and is tested, and a diagnosis can be confirmed. This test also couldnt be done untill 16 weeks so I opted for the Harmony Test in the meantime.

I waited just over a week for the results of the Harmony Test and it was such a hard time, the days felt long and I was very scared, and felt very lonely. Up untill this point I had always said I would terminate my pregnancy if I was ever put in this situation, but untill your actually in the moment you just dont know how to feel, or what you would do, I was confused and already so in love with my baby.

I recieved the results back from the Harmony test and once again, those dark block letters saying "INCREASED RISK" spread across the top of the paper...but instead of a ratio type result, it came back with a percentage. It read "99% chance for Trisomy 21" 

I was absolutely gutted, I couldnt comprehend what was happening. But in what felt like all this darkness, at the bottom of the sheet which also tests the babies gender, it said the baby was a little boy, I smiled as I knew all along I was having a boy. Although I didnt feel excited yet.

That had been stolen from me, I felt numb, unsure of how I was supposed to feel.

At 15 weeks the doctors sent me in to have an anatomy scan, this would show any "soft markers" for Down Syndrome untill we had the amnio and recieved the results.

I lay on the table, it had been a few weeks since my last scan and my baby boy looked like a baby! A tiny one, but none the less he had fingers and toes and was moving around, he was still just a baby!

The doctor seen 2 soft markers common in babies with T21, my baby had no nasal bone and what looked like a heart defect.

Although I was scared, I remember  walking to the carpark afterwards with my mum, and breaking down, sobbing i said "i want to keep my baby, he is still just my little baby." In that moment she held me tight and we cried together and although I had not yet had the amnio and didnt have that confirmed diagnosis, I knew in my heart It was going to be ok and that I would keep him no matter what, and I felt at peace.

The following week, I went in for the amnio, and within 24 hours, I had recieved the call saying my baby boy had Down Syndrome. 

And that was just the start of my T21 Journey.