‘Just one of those things’… a strangely reassuring diagnosis

After losing a baby in January 2014, I was equally thrilled and terrified when I found out that I was expecting again that July.

To allay our fears, we paid out big money for the latest DNA testing to give us as much information about our child as possible and – after a normal 12-week scan – were over the moon when our test results came back as ‘low risk’.

Obviously, no test is infallible, but we were happy with our odds, so told our family and friends the good news.

But the sharp eyes and perseverance of a lovely sonographer* at the 20-week scan put an end to that unfettered excitement.  After much checking and double checking she was sure. Our baby was missing her lower left arm.

After I’d stopped crying, I started Googling, and found loads of sites and notice boards with posts from people just like us. It seemed this had happened to thousands of other families too. Of course, there were no definite answers and many horror stories (after all, who shares good news on the internet?), so we were still none the wiser, and now more worried than ever. Could her arm just be a sign of something much more sinister?

God bless the NHS, we were at the foetal medicine unit the very next day, for the most thorough scan and an ECG to check for the telltale signs of underlying conditions that may have caused our baby’s left arm to not develop. So far, so good.

The consultant ran through every possibility, including Edward’s syndrome, which could mean the baby wouldn’t make it to term, and if she did, she’d live a very short time with many health problems. Or it could be ‘just one of those things’. So the choice was amniocentesis or CVS with a 1 in 100 chance of miscarriage, or ‘wait and see’. With odds of 1 in 120,000 quoted on our DNA test results for Edward’s syndrome, we went with ‘wait and see’.

Over the next 14 weeks, I had several more ultrasounds where no other issues were apparent. But as a lifelong over-thinker, I spent many a sleepless night imagining the worst.

Our big breakthrough came with a visit to a clinical psychologist on the first day of my maternity leave. Within minutes of us arriving, she dismissed Edward’s syndrome (‘very unlikely’) and proceeded to tell us about all the kids she works with who lead incredible lives with a missing limb.

We talked through our concerns and how we planned to manage other people’s reactions, and as we shared our plan of action, I realised how well prepared and positive we were, and how excited we were to meet our little girl.

And as we got up to leave, the psychologist said the simplest, most reassuring thing we’d heard since the 20-week scan.

‘She’ll be just fine you know, and she’ll amaze you every day’.

Five weeks later, at just before 2am on Good Friday, the midwife plonked a chubby cheeked little baby on my chest after 10 hours of labour. I didn’t even notice her arm at first- just how steadily she held my gaze and how beautifully pink and pudgy she was.

And there and then, it was clear that the psychologist was right.

Day one and already amazing.

(*we later discovered that very few cases like Kitty’s are diagnosed antenatally, so we can’t thank that sonographer enough. Having five months to prepare made all the difference.)

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an exciting new chapter

Having a baby is always life-changing. But when you’re told at the 20-week scan that your baby is missing part of her arm, life really does change forever.

At first there’s the shock – that horrible wave of heat and nausea that sweeps over you whenever a medical professional says ‘I just need to check something with a colleague’.

Then the disbelief and sadness. The ‘why us?’ The constant shifts from excitement to apprehension and back again.

But eventually, after lots of talking, tears and some amazing support from the NHS, we realised that yes, we can do this. We can make our little girl a happy, confident child who can do absolutely anything she wants. And this blog is my way of hopefully helping other parents who get the same heart-stopping diagnosis to see the light at the end of the tunnel. And to remind myself that we’re doing OK. Mostly…

This is the story of the incredible Miss Kitty.

Kitty at eight hours old

Kitty at eight hours old