22 Miles for TFMR - Mile 5 - Luca
Mile 5 of the Channel Challenge is dedicated to gorgeous Luca.
This is Luca's story, told by his wonderful mum Sara.
When our first pregnancy ended abruptly with a miscarriage at nine weeks, my husband and I were devastated. Six months later, though, we were delighted to find out that we were expecting again – our rainbow baby was due in early November 2018. The first few weeks were spent in a mix of bliss and anxiety, whilst we eagerly waited for the so-called “viability scan” – the one when, a few months earlier, we found out that our baby didn’t have a heartbeat. At the scan, when I was in between seven and eight weeks, we were overjoyed to see and hear that our rainbow was alive and their heartbeat was perfect. However, something inside me just didn’t feel quite right – to this day, I can’t explain what it was. I was so worried that I insisted on having another scan, privately, at 11 weeks. Once again, everything seemed fine. My mum and dad, who live in my hometown in Italy but were in London for the weekend, came to the scan too, and we all went out for dinner to celebrate.
A few days later, though, alone at home as my parents had flown back and my husband was out of town, I started looking through the pictures from our private scan, and convinced myself that there was something wrong with our baby. The nuchal translucency looked pretty thick, which I knew could be a worrying sign. I panicked over this thought so much that I convinced my husband to go for another private scan, a few days later. From that moment on, I truly felt like I was living in a nightmare. The sonographer who scanned me confirmed that our baby’s nuchal translucency was very thick – nearly 4mm, when the “norm” should be up to 2mm. She sent us straight to Professor Nicolaides, one of the world experts in foetal medicine, who scanned me a couple of days later. By then, at nearly 12 weeks of pregnancy, the nuchal translucency had increased dramatically and measured 7mm. Professor Nicolaides said he was sorry, but there was a 90% chance that our baby might have a chromosomal or genetic abnormality, potentially “incompatible with life”.
He recommended a CVS, which we did two days later at UCLH, under the care of an excellent team led by Dr. Pandya. Surprisingly, all the results came back clear: our baby’s chromosomes were normal. Our relief, however, was short lived, as we almost immediately found out, during another scan, that our baby’s heart was not developing normally. By this point, I’d already had a total of eight scans, my anxiety was through the roof, and I was signed off sick by my GP. I spent the following month resting from work, in between London and Piacenza, my hometown, impatiently waiting for our next scan in early June.
At this scan, finally some good news: our baby’s heart condition (Tetralogy of Fallot) was not as severe as the doctors thought, and they were confident that they would be able to operate him (our baby was a boy, we found out) at birth and that he would be able to live. As I was already nearly 19 weeks during this scan, a second doctor performed a quick anomaly check – everything looked good, and we were told to come back for another scan in late July to check baby’s heart again and make plans for early induction or caesarean.
At home, my husband and I were reading through our scan notes when we noticed that some of our baby’s measurements were very low – his femurs were in the 5th centile, which is still considered normal, but we couldn’t shake the feeling that there was something more to it. We contacted our consultant at the hospital and booked another scan for mid-June. Once again, our baby’s femurs were really short though still within what is considered the “normal” range. However, our consultant agreed that we needed to keep an eye on growth and come back to see her in two weeks. She tried to be reassuring by saying that it was extremely unlikely that something would be wrong: our CVS results were all good and, apart from the heart problem, our baby seemed absolutely fine. He had also started moving, and my husband and I were absolutely in love with him. We went to Italy again for a week, trying to take our minds off things.
When we got back to London, it was already time for another scan. It was then that our world came crashing down. Our baby’s long bones were now completely off the scale, in the 1st centile or so. He appeared to have some stippling at the end of his femurs, too, which were clear markers of a rare form of skeletal dysplasia (dwarfism). We were in the hospital for hours, that day. I was scanned by three different doctors, each time trying to suffocate the tears, each time trying to wrap my head around the fact that no, our rainbow baby wasn’t going to come home with us. All the doctors who scanned me agreed that this baby was very, very poorly – that was the first time they mentioned the words “termination of pregnancy”.
I was already nearly 24 weeks and terrified of what this would entail. We decided to hold off a little longer just to hear back from the geneticists with their diagnosis, then we would hopefully be able to make a decision. Devastatingly, the geneticists at Great Ormond Street Hospital said they were 99% sure our baby had rhizomelic chondrodysplasia punctata (RCDP), an incredibly rare and lethal form of dwarfism. They took bloods from my husband and myself and performed an amniocentesis: all these tests confirmed we are both healthy carriers of a gene that causes RCDP, and our baby was affected with the condition.
Our CVS results had come back all normal because our baby’s chromosomes were fine – it was just the PEX7 gene that caused the disorder, but that’s not something that gets routinely checked with a CVS. The prognosis for RCDP – especially in conjunction with our baby’s heart condition – was incredibly bleak. We could expect him to die in utero at any time, or pass during or straight after birth. If he survived for a few days or longer, we were told he would be in a lot of pain due to his bone abnormalities and the inability to feed, breath, and move independently.
We were absolutely crushed, and felt like the “decision” was made for us. On the 24th of July we had one last scan and said goodbye to our baby amongst endless tears whilst the consultants injected his heart so that it would stop beating, in preparation for the induction of labour. Two days later – yes, I carried my dead baby inside me for two days – I was admitted to the hospital and the induction process started. On Friday 27th July, our precious little rainbow, Luca, was born, after an excruciatingly painful few hours. We managed to spend the rest of the day with him, taking photos and making memories. My parents had decided to come to London and they got to meet their first grandson, even though under unimaginable and painful circumstances. Leaving the hospital with just a memory box instead of a baby felt like the cruellest, most surreal thing that could ever happen to anyone.
Even now, a year later and after welcoming my healthy, beautiful rainbow Federico, there is a big hole in my heart full of the love that I will never be able to give to my firstborn.
Luca, you will be forever loved and forever missed.
I'm incredibly honoured and touched to be able to share the stories of so many loved and missed babies. If you'd like to dedicate a mile of this swim and tell your own baby's story, please do get in touch.
You can sponsor the challenge here https://uk.virginmoneygiving.com/TLBFCo.
If you have found yourself in a similar situation and would like some support the ARC website is here https://www.arc-uk.org/