• Sara

Luca's illnesses, and how I’m balancing love and knowledge

This post is best read while listening to “Spanish Sahara” by Foals

How can you feel enormous amounts of pain, love, grief, sadness, longing for a baby who you decided was not going to live? How can you miss that baby – his tiny, sleeping face, his imperfect body, his peeling skin, his floppy hands that you wrapped around your index finger? How can you grieve for that baby, when you know perfectly well that he wouldn’t have survived?

These – and many, many more – questions have gone through my mind, and continue to pop up, since losing Luca. Luca was not a perfectly healthy baby whose heart suddenly stopped while he was still inside me, nor was he a perfectly healthy baby who stopped breathing soon after being born. He wasn’t even a premature baby: I hadn’t gone into early labour and delivered him too soon. Luca was very, irremediably ill.

The first diagnosis: Tetralogy of Fallot (ToF)

At only 14 weeks, following a distressing nuchal translucency scan – a visit which I wholeheartedly recommend to any expecting mum – Luca was diagnosed with a serious heart condition, called Tetralogy of Fallot.

The British Heart Foundation describes this condition as follows:

“There are four main problem abnormalities with Tetralogy of Fallot.

· The pulmonary valve is narrow (pulmonary stenosis) and the muscle below it is thickened.

· There is a large hole – called a ventricular septal defector VSD – between the two main pumping chambers of the heart (the right and left ventricles).

· The aorta sits over the left and right ventricles instead of just the left ventricle (overriding aorta).

· The right ventricle is enlarged and more muscular (right ventricular hypertrophy)

In Tetralogy of Fallot, oxygen-rich and oxygen-poor blood mix because of the VSD. This means that the blood being pumped around your child’s body doesn’t contain as much oxygen as it should, and they can appear blue.”

As for the symptoms, the BHF explains:

“The low level of oxygen in your baby’s blood can make them appear blue, particularly on the lips and tongue, inside the mouth, and on the hands. How blue your baby looks depends on how severe the pulmonary stenosis is. Some babies appear pink and just become slightly blue when they cry, while others may appear blue all the time.

Some babies may have hypercyanotic attacks where they suddenly become very blue, or very pale or floppy, or faint. You should tell the paediatric cardiologist immediately, as these attacks can be very serious and can be life-threatening. It is usually possible to control these attacks with medication, but often they are a sign that it is time to plan surgery.”

During our last fetal echo, the cardiologist informed us that Luca’s pulmonary stenosis was already severe, but that he was confident that an open-heart surgery performed straight after birth would correct his problem. He, however, promptly added that it was impossible to predict how his body would react to the operation, and reminded us – as he had already done during a previous scan – that “what you read on the Internet is not what happens to most people.” I believe he was referring to the fact that we had mentioned that Olympic champion snowboarder Shaun White has ToF and had perfectly recovered from it. In practice, he was telling us to be cautiously positive, but not overly hopeful. And that’s precisely what we did – and we continued the pregnancy, because never in the world would we terminate for a heart condition that was most definitely going to be fixed.

The second diagnosis: rhizomelic chondrodysplasia punctata type 1

It wasn’t until a growth scan, at 23 weeks, that the doctors spotted something else wrong with our son. His femur and humerus were completely off the scale – at less than the 3rd percentile – and they seemed to have some stippling at the end. The geneticists were quite quick at coming up with the diagnosis of rhizomelic chondrodysplasia punctata type 1 (RCDP1), which was later confirmed by analysing blood samples from Daniel and myself. As it turns out, both of us carry (different) genetic mutations on one of our PEX7 genes. At conception, Luca was unlucky enough to randomly receive both mutated copies of our genes – he could have been absolutely fine if he had got just one.

Here is what The Genetic and Rare Diseases Information Center says about this incredibly rare condition:

“Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern.” The geneticists also explained that, because Luca was also affected by a serious heart condition, he would have probably not survived – or his body would not have survived the multiple open-heart surgeries that he needed. If he did survive, he would have not been able to feed, breath, or move normally. He wouldn’t be able to talk. He wouldn’t conquer many of the milestones his peers would be able to conquer. And eventually, he would die in infancy.

After this second diagnosis, Daniel and I talked about what we could and should do. Luca’s prognosis was terribly bleak, the whole pregnancy had been fraught by distressing scans, awful diagnoses, and worried doctors. I was already nearly 26 weeks pregnant. With the heaviest of hearts, we decided that we would terminate.

Finding a “balance”

So, how can I balance the feelings of loss, anguish, and guilt with the knowledge that Luca wouldn’t have survived a full-term birth or would have led an incredibly short and painful life? How can I not feel different, or uneasy, when talking to other women who experienced gut-wrenching and unexplained stillbirths, who had straightforward pregnancies and healthy babies but didn’t get to take those babies home? Do I have the right to say “I miss him” when I voluntarily chose to end his life before it even truly began? Wouldn't it be more "natural" to be consumed by guilt? And, how do I reconcile missing him, his real self – the baby who grew in my belly, came out of my aching, exhausted body, never took a breath, and looked so much like me – with missing the “idea” I had of him, of his life, of who he would grow up to be? This is most definitely a work-in-progress type of situation – one which I have only just started. I have decided to think about Luca as a part of myself – and I mean my physical, tangible self. I am putting so much effort, every day, into the unfamiliar but necessary art of “loving myself” – made that much harder by years of eating disorders and body dysmorphia – and I am slowly conquering it.

For six months, Luca was inside me, he was with me, every-single-second-of-every-day. I would have hurt, bled, suffered tremendously if he had gone – just as I would if an arm or a hand or a leg were amputated. And just like I did when I delivered him. So, I will always, forever miss him, and ache at the thought that he’s no longer with me. At the same time, once I acknowledge that and allow myself to love him because I want, I need to love him as a part of loving myself, I also recognise the truth. And the truth is that he would have never been well outside my body. He would almost surely have not survived, or he would have been in excruciating pain and died after a very short time. I couldn’t do that to him – I couldn’t do that to myself. I’m not saying that mine was the only possible decision that a mother would take, and I don’t blame or judge or criticise other people who took or would take a different path – I’m just saying that mine was the only possible decision for myself, and for my son. For ourselves, for our lives, for my husband, for our families. I live in a foreign country where I have no family and an incredibly limited number of friends. I have been suffering from anxiety and bouts of depression on and off for years. I would not have coped with caring for a terminally ill baby. There is no shame in admitting that – it’s the simple, unfiltered, unglamorous reality of my life. Of course, this is absolutely not to say that my choice was rushed or painless – quite the opposite.

Trying to come to terms with the most unthinkable choice a person could fathom while at the same time allowing these contradictory, complex feelings to coexist and find a balance in an attempt not to go utterly crazy is no easy feat, I tell ‘ya. Yet, I'm working on it and I know I might need to continue this work for as long as I live. Luca was and will always be both the very ill baby in my womb, and the idea of that beautiful, healthy child that we longed for - and I need to learn how to live without both. Sometimes, I feel like it's a double loss. The loss of that baby that I gave birth to and held and often deeply need to see and touch again, and the baby who only lived in my head and in my hopes and dreams, but never existed. Loving and missing both versions of Luca is the most gruelling act that I've ever had to do in my entire life, and sometimes I wonder if my heart, body, and brain are strong enough to cope with all of this.

I wrote this in the hope that people will no longer wonder, after listening to my story, why I am allowing myself to feel such profound love, loss, and pain for my Luca, despite the circumstances in which we said goodbye.

I wrote this in the hope that other women who made a similar decision do not feel unworthy, confused, or guilty for experiencing these emotions.

Ultimately, I wrote this as a love letter to my son, as a testament to how boundless my connection with him is. Because he will always be a missing piece of myself, and I can't help but love him.

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