Turner Syndrome: Eden’s Story

“There’s the heartbeat” said the sonographer, with a smile.

I beamed at Mike (my husband) and he squeezed my hand… everything was ok. In that moment, I let myself breathe a sigh of relief… this little baby, was going to be the perfect addition to our family, with the 18-month age gap between our first baby and baby number two… just perfect. I was so indescribably happy; how did I get so lucky? I said to Mike “look, it’s another little Luna!” then asked the sonographer, “can you tell if my placenta is anterior or posterior?”. This mattered to me, as I knew I’d be able to feel kicks sooner with a posterior placenta (oh how insignificant that feels now!) … “it’s posterior” she said.

The sonographer turned the machine off. Strange… I thought. Why didn’t she give me a due date? “I’m afraid it’s not good news today”. This is the exact moment I felt my world collapse from under me. What does she mean, it’s not “good news”? There’s a heartbeat, the baby is measuring exactly according to dates… she must mean I have to come back to be re-scanned as baby is laying in a funny position. “Your baby has a high nuchal measurement” (this is the measurement taken at the back of the baby’s neck, if it is over 3.5mm then it usually indicates a problem with the baby – ours was 6.9mm). I burst into tears. I knew exactly what that meant, having worked in maternity for several years, seeing hundreds of women go in and out of scanning rooms… I knew that this was the worst news we could’ve had. Mike looked confused, he didn’t know what a “high nuchal” measurement was, why would he? It’s not something many people have to worry about… and not something that many people even know the importance of when going into their dating scan.

“Your baby is unlikely to survive much longer”. Those words, the look on her face, it’s all so vivid even now. The look of sheer pity; proceeded with the standard “shall we give you a minute?”. I hated that bit.

I’d heard that so many times and always thought… what’s “giving me a minute” going to do? I didn’t want to be left, I had so many questions. She went out the room and I just sat there sobbing… Mike looked just as upset, and probably confused too, but he held me and let me cry without asking too many questions. Next, we were taken into “that room” … you know, the one where all the sad people go after they’re given bad news. I’d unlocked that room in the clinic so many times on a Saturday morning, and it always gave my shivers… poor people, I thought. Naively, I never, ever thought I’d be the one sat in there one day.

We were ushered into the room, tears streaming down my face, walking past all the happy couples in the waiting room. I sat down, was told the next steps and when we were ready, we left. One thought that I was consumed by was, “how am I going to tell everyone?”. I almost felt as if I’d let everyone down. I rang my Mum, my Dad, my sister… they were all confused like Mike, they didn’t know what a high nuchal was. Surely if the baby has a heartbeat that’s all that matters?

The next few weeks were a whirlwind. The next day, we drove to Cardiff for a private NIPTY test (a blood test, more accurate than the NHS one that tests for 18 chromosomal conditions, with high accuracy) paid for by our generous family and friends. When we got there, I had another scan, and the consultant looked up at me and was brutally honest. He told me that there wasn’t much point in us paying the £450 for the blood test, as it was not diagnostic, and we’d still have to go for an invasive test anyway. The invasive test is a long needle into your tummy, and either takes some of the placenta or amniotic fluid and will diagnose 100% if your baby has a chromosomal condition. We decided to go straight for invasive testing. The CVS was awful… having someone poke a needle into the area you spend weeks trying to protect felt so unnatural. But it was done, and we then had the week long wait for results.

The next week, we had the call. The consultant said our baby had Turner syndrome.

We had been told this was a high possibility, but there was still part of me that hoped the genetic testing would come back normal. But at least we had a diagnosis. This is the point I decided I had to carry her for as long as I could, I had to give her every chance possible, to see if she would improve. Unfortunately, at every scan she looked worse and worse. She had hypoplastic left heart syndrome, was missing the cerebellum in her brain, and fluid was building up everywhere. We were induced at 18 weeks after being told she had gone into heart failure.

The reason I wanted to share this, is to raise awareness of Turner syndrome, and the importance of the nuchal measurement. So many people are unaware going into the dating scan, and even myself, someone with maternity knowledge, did not think that my baby would have a high nuchal.

It’s not something you could ever prepare yourself for, and luckily, it’s much more common to have a normal nuchal measurement, but I do feel people should be better informed going into that scan. Turner syndrome babies are more common than I thought, and there are two types; mosaic and full Turner syndrome. Our baby had full Turner’s, meaning that her prospects were much worse than a baby with mosaic type. Mosaic type Turner’s usually are not picked up on scans and are diagnosed later in childhood, where they can live a relatively normal life. Most babies that have full Turner syndrome do not make it past the first trimester and are lost in early miscarriages. The cause of Turner syndrome is an abnormality with the egg or sperm at the time of conception, and fortunately has a reoccurrence rate of around 1%, meaning for us it would be extremely unlikely for it to happen again.

Our baby defied all odds, she made it past the first trimester, she made it through every scan when the consultant was sure she would’ve passed away. If I’ve learnt anything through this experience, it’s that my strength came from the little fighter inside of me who kept defying all odds. Thank you Eden for showing me the strength I never knew I had.

(To follow more of our story – and keep up to date with future blogposts – please follow my instagram account @whitney_andluna )

Written by Whitney Rogers for her blog, Whitney And Luna.