• Sara

Luca's story - July

This post is best read while listening to 'Tougher than the rest' by Bruce Springsteen.

I wanted to write about Luca's last month on earth - or, better, inside me - right from the day we had to say goodbye, four weeks ago. I tried writing snippets in my diary, in my own language (Italian), I tried composing brief poems and songs, but I guess the pain was just too blinding and the words too heavy to paint a truthful picture of those surreal, gut-wrenching days and weeks. I might be just about ready now.

11th July

When we came back to London after our second Italian stint, we were unexpectedly in good spirits. Daniel genuinely believed that our baby had grown in that timeframe, and that our next scan would give us the reassurance we so desperately needed, and I had started to allow myself to let go of the negativity and be more optimistic. On the 11th of July, we visited the all-too-familiar Fetal Medicine Unit at UCLH for another growth/anomaly scan. Whilst I was preparing to lie on the scanning bed, Miss Paul and I chatted for a bit and I joked about how much the baby had started moving, to which she replied: "Oh, you'd better prepare for a lot more of that!". That sentence, in its innocence and simplicity, will forever be a bittersweet memory.

The first few minutes of the scan went by pretty quickly and without any particular worries. The baby was wriggling around as usual; Daniel and I were smiling at each other, eager to hear Miss Paul confirm that everything was well; Miss Paul was communicating all the measurements to a colleague, who was duly entering them into a computer. Then, it was time to check the femur. I can honestly feel my heart racing as I am typing this - just like it began racing in that very moment. "The femur is still pretty short," said Miss Paul, whose face now looked slightly more concerned. "But I can see something else, as well." She went on to explain that, where she would expect to see cartilage, she could already spot something that looked like bone. She immediately called Dr Pandya for a second opinion. I was scanned again by him, who confirmed that something with the baby's bones didn't seem quite right. For the first time, Daniel and I heard the dreaded words 'skeletal dysplasia'. For the first time, Daniel and I were offered "full support in case of a termination." Hang on a minute - how could the situation be so serious, all of a sudden?

Also - a termination? I was nearly 24 weeks. I knew very well, from my online research and my phone conversations with ARC, that terminating after 24 weeks wasn't possible. Or was it? And was it something we definitely wanted to do? Dr Pandya, despite not being an expert in skeletal dysplasias or any other genetic issue, looked pretty certain that something deeply worrying was happening. He mentioned that, after 24 weeks, it is still possible to terminate, especially with a diagnosis of serious heart disease coupled with a possibly lethal skeletal dysplasia - all that was needed was the signed consent from two consultants. Amongst the tears, the sobs, and the throbbing headache, I could also hear Dr Pandya mentioning "induction of labour" as the only viable way to terminate at such a late stage. My body was there, in that room, but my mind wanted to run away as far as possible, perhaps even run back in time, find some form of shelter or comfort and never go back to that awful place - the place where I was given the most awful news of my life. I was scanned a third time - by Dr Ushakov, who only a few weeks earlier had discovered our baby's heart condition. Dr Ushakov confirmed, once again, that the bones - humerus and femur - were way off the scale, and their appearance was very concerning. This was no longer a potentially small baby, or a baby with other growing issues - this pointed to a possible genetic disorder, perhaps even lethal.

I will probably never be able to fully explain how cruel, surreal, and impossible that morning was for me. Sometimes it just replays in my head like the scariest scene of a horror film that I was told not to watch, but couldn't refrain from doing so.

Daniel's mum rushed to the hospital, and the three of us spent a good amount of time in a small room, crying, hugging each other, and trying to make sense of what we had just been told. This was not happening. This was not possible. Why were all my nightmares coming true? What had we done to deserve this? What were we going to do now? Everything happened so quickly: one of the midwives, Hillary, informed us that they had made an urgent referral for us to see a geneticist from Great Ormond Street who, in the meantime, would try to provide as accurate a diagnosis as possible, based on the scan pictures taken by Dr Ushakov. She would call me back later that day or the following morning, with an appointment date and time. We left UCLH in a haze. I don't remember eating, showering, or doing any of the normal, mundane activities that everybody performs, but I guess I somehow survived that distressing day.

Nobody called from UCLH for two days. At that point, I decided to ring them myself and asked to speak to Hillary. She apologised, and said that there had been an awful lot of discussion around our "case". Apparently, doctors, researchers, and geneticists had gathered in a panel to talk about our baby, and come up with a diagnosis as quickly as possible. They all knew I was fast approaching my third trimester, and time was of the essence. During that phone call, I heard the words 'rhizomelic chondrodysplasia punctata' for the first time. Because I was incredibly anxious, I didn't quite understand whether that was the condition that doctors believed our baby had - still, Daniel and I googled it and discovered it's a lethal genetic condition that affects not only a person's stature, but pretty much all of their organs, as well as the brain development. I watched a YouTube video that night, which explained how rare this condition is and how terribly impaired the lives of babies with this condition are. At this point in time, fewer that 100 babies and kids around the world suffer from this incurable disease. Mortality rates are incredibly high, especially in the first year of life. The illness itself is very painful for babies, and coupled with a serious heart disease... I couldn't face it. I couldn't think about this. A tiny, minuscule part of me still hoped that the doctors might be wrong, so we decided to hang in there until we heard back from the geneticists. Our baby, in the meantime, kept delighting me with his kicks and somersaults - how was it even possible that something so awful might be happening to him? How was I ever going to say goodbye to my son?

19th July

A week after the worst scan ever, we headed to Great Ormond Street to meet with the geneticist, the lovely Dr Wilson. I felt oddly calm, or perhaps just numb, whilst Daniel and I sat in the waiting room. I knew the doctor would simply confirm what everybody else had said up to that point - the tiny glimpse of hope within me had died out. Daniel was still unsure about the whole situation and we both agreed that, in case the diagnosis was unclear or there were too many 'ifs', we would not terminate the pregnancy and would deal with whatever was to come. Except, once again, I knew. I knew that our boy was very ill. Is this what they call "a mother's intuition"?

Once in the room with Dr Wilson, we were firstly asked some questions around family history and general health. Then, we were given the final blow: "We strongly believe that your baby might have a skeletal disorder called rhizomelic chondrodysplasia punctata. This is a recessive disorder, which means there's a very high chance that both of you are healthy carriers of the genetic mutation which causes this disorder." Dr Wilson's voice was soft, her eyes sincerely apologetic. Still, I couldn't help but feel a rush of anger washing over me. Daniel and me. The tall, blue-eyed boy from Wood Green and the pale, dark-haired girl from Piacenza, who met in a pub on a wet and cold March day in 2012, kissed at a bus stop, fell in love and got married in a castle on the hills, had suddenly become "healthy carriers of a genetic disorder."

What the fuck?

Dr Wilson reiterated that, with our diagnoses of heart disease and skeletal dysplasia, we would definitely be able to organise for a termination, if we wanted to. I was 25 weeks exactly when she said that. How could I let go of my boy? But how could I allow my boy to be born into such a devastating, short, and painful life? Did I need more reasons to make a decision? Was I willing to go through the heartache, the trauma, and the physical agony of a late termination, so that Luca - the name we chose for our boy - did not have to suffer for a second?

To make the diagnosis official, they took some blood from both Daniel and myself, and informed us that the results would be ready after about four weeks. Dr Wilson gave us complete freedom to decide on the next steps - waiting for the final results to come back, almost surely confirming the diagnosis, and have a termination; waiting for the final results to come back, almost surely confirming the diagnosis, and not have a termination; have a termination the following week, without waiting for the results. Could we wait four more weeks, after all that we had endured until then? I couldn't bring myself to ask Dr Wilson how confident she felt in diagnosing Luca with rhizomelic chondrodysplasia punctata, but thankfully Daniel did it for me. Sadly, she said, she was 99% sure. Was that almost invisible 1% enough to sustain us for four more weeks? Could that 1% even be considered "hope"?

We had been clinging onto a ridiculously microscopic thread of "hope" since that horrific 13th April - the thread had gone thinner and thinner over the months, and had now snapped for good.

The following day, we phoned Miss Paul and asked her to book us in for the next steps towards a termination for medical reasons. With a heavy heart, Miss Paul asked me to meet her at the Fetal Medicine Unit of the Whittington on the following Tuesday, when I would have an injection to stop Luca's heartbeat. On the Thursday, I would start the induction process. On the Thursday, I would be 26 weeks.

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