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TFMR due to Noonan's Syndrome

I never wanted my baby boy to suffer. I still struggle with the grey areas of this syndrome and the 'what if's' . All of it is so overwhelming, it is still so raw.

Luca John - Forever our little Man, Loving you always x

I found out I was pregnant early November last year 2020; I was overjoyed. I had an 8-year-Old daughter already from a previous relationship and I’d been a single mum for a long time. Finally met a lovely partner & we decided to have a baby after being together for three years.

We had a rocky start to the pregnancy (although I felt fine) the baby had a thick Nuchal fluid around his neck at 12 weeks. We then went on to get an amniocentesis and when I was around 17 weeks I was eagerly awaiting the results.

A few days later the first lot of results were in and it was good news, our baby was negative for down syndrome and Trisomy 13 .

We were elated! A few weeks rolled by and the 20 week scan was coming up. I was going back to the Mercy hospital for this scan to thoroughly check over baby. We received more good news, the baby was looking healthy and even Nuchal thickness at the back of our Bub's neck had resolved itself.

A week later my genetic counsellor rang me & said there is one more test we can do, it tests for Noonan’s Syndrome. I remember him saying "We are sure everything will be fine but would you like to go ahead with this test as we already have some left amniotic fluid in the lab of yours. The test just involves you going to get a blood test." I barely contemplated it and just said yes I will have this test. It took a few weeks to get the results back.

I then received the call with the results on the 13th of April to be met with "Your baby has tested positive for Noonan’s Syndrome’". I hadn't heard of this syndrome until it was suggested to take a test a few weeks prior. I had at this time done a quick google search, this was the first time it was ever in my awareness that this syndrome existed.

My mind was spinning, our world had come crashing down. I couldn’t even ring my partner, I was so upset, dazed and confused. The Geneticist rang my partner to tell him the results.

The next day we had a tele-health meeting with the top Geneticist at the Mercy hospital. He ran through what our child could /would face, living with

Noonan’s syndrome (PTPN11 a particular gene we knew our child had). We asked the doctor if there was any way to test if our child could be mild or severe in their symptoms, he said there is no way to test this. He discussed with us if we could cope with all the medical issues that our child could be faced with at once if it was severe, I said no, but most importantly I would not wish for the child to go through all of that; to me this was horrific .

I sat up till 3am most nights crying and reading thinking there must be another way. I knew there just wasn’t another way and my referral was sent for our heart breaking soul crushing decision to TFMR., Terminate for Medical Reasons. It was a two-week limbo wait; this was the hardest time in my life. Feeling him kick and being heartbroken over and over again.

I was 26 weeks pregnant and we were well and truly dreaming of our baby boy prior diagnosis – I had 6 months with my baby in my tummy.

I gave birth to Luca John McKay on the 1st May 2021. His due date was 8th August.

When I laid my eyes on my baby boy he was so beautiful, I have a really beautiful memory of him. It breaks me when I think that his little eyes never got to open and see the world, his perfect little nose never got to smell and his little feet never got to touch the ground.

I never wanted my baby boy to suffer. I still struggle with the grey areas of this syndrome and the 'what ifs' . All of it is so overwhelming, it is still so raw.

All I know is my baby boy Luca John is so loved and so wanted he will always be In my heart, forever with me.

Thank you to this TFMR Mama for sharing her story and her precious baby boy, Luca John. I am sending you so much love x x x


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