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Luca's Story

Updated: May 27, 2023


Luca John

Forever our little man. Loving you always

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

We had a rocky start. The pregnancy was fine, as in I felt good – however baby had thick Nuchal fluid around his neck at 12 weeks which led me to get an Amniocentesis. I was around 17 weeks, eagerly awaiting the results.

A few days later the first lot of results were in (good news) baby was negative for down syndrome and Trisomy 13. We were elated! A few weeks rolled by & 20-week scan was coming up, I was going back to the hospital for this scan to thoroughly check over baby – more good news! Baby was looking healthy even nuchal thickness at the back of bubs neck had resolved itself.

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

I received the call 13th of April to be met with "your baby has tested positive to Noonan’s Syndrome". I had never heard of this syndrome but a quick google search I'd done a few weeks prior when I’d done the test entered my mind.

My mind was spinning, our world had crashed, I couldn’t even ring my partner because I was so upset, dazed and confused. The geneticist rang my partner to tell him.

The next day we had a telehealth meeting with the top geneticist at the hospital. He ran through what our child could/would be faced 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 not such a test but asked could I deal with all the issues highlighted in the medical text 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 – horrific.

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

I was 26 weeks along, we were well & truly dreaming of our baby boy prior diagnosis – I had 6 months with my baby in my tummy. I gave birth to Luca John on the 1st May 2021 – he’s due date was 8th August. When I laid eyes on my baby boy he was so beautiful. I have a really beautiful memory of him. It breaks me when I think he’s little eyes never got to open & see the world, he’s perfect little nose never got to smell, he’s little feet never touched the ground.

I never wanted my baby boy to suffer, I still struggle with the grey areas of this syndrome - the what if's, all of it is so overwhelming and it’s still so raw. All I know is my baby boy Luca John is so loved, so wanted and he will always be in my heart, forever with me.


To learn more you can head to the following link Noonan Syndrome Awareness Association


Luca's Mum

Australia

Submitted 30/05/2021

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