It's all in the genes?

​NICK
For us, losing our baby was not the end of our engagement with the medical institution. It wasn't even the start. In reality, it was a continuation of a history going back years.

They took our baby away to perform tests. We had to fill out a form to get her back, which took a few weeks. I could not face collecting the remains. we arranged a funeral director to do that for us. She had our baby cremated and returned to us. We will scatter her ashes, but we have not done it yet. The tests would confirm what exactly had gone wrong with our pregnancy. It was highly likely to be confirmed as a Partial Molar Pregnancy. It would also confirm if there were any genetic anomalies or unexpected causes behind it. I was quite nervous about that bit, because I've got a few genetic oddities of my own.

I was born with a relatively rare eye condition (at least rare in isolation) called Ectopea Lentis. That is, the lenses that sit over my eyes and focus my vision were sitting a wee ways off centre. This, combined with cataracts meant I had extremely poor vision through my right eye (corrected with glasses) and am effectively blind in the left (it's like looking through thick glass - I can count fingers at close range, that's about it). I have since had surgery to improve the vision in the right eye, which is now pretty close to 20/20 when corrected with glasses. The left eye is a lost cause, since I never built the neural pathways in my brain to see out of it properly. There's a bit more to that story, but maybe more on that another day.

I've since learned via many, many doctors' appointments and a few blood tests that the condition is genetic, and can be linked with various problems including heart conditions, and Marfans Syndrome. In my case, it was caused by a very rare mutation of the ADAM TSL4 gene. The research on this is very new, since hardly anybody has had (or at least reported) the specific mutation - but it appears to be recessive (i.e. Difficult to pass down) and doesn't appear to do anything but mess with your eyes. I am fit and healthy otherwise, and none of the rest of my family have this problem.

Given this history, you can imagine we were nervous when we made the decision to have children. We had consulted with the genetics doctors, and they'd said the chances of passing something on to the next generation were very, very small. Ultimately we decided that, even if something was passed down, it hadn't stopped me from living a full life - so we should go for it.

Sam is 4 now, and has not shown any signs of my specific condition. Developmentally he's awesome - happy, healthy, pretty damn smart (if we don't say so ourselves). After Sam, we didn't even think about any genetic risk for our second pregnancy. But now, after this awful year and after losing our baby to a rare genetic mutation - I began to fear the worst. Was there something more to my genetic makeup that could have caused this? The science is new after all - am I the unlucky first? Is this my fault? 

A few weeks later we had our follow up appointment with Maternal Fetal Medicine, to talk about what had happened. Annamarie's mother came with us. The doctor who told us our baby had died was there. She remembered us. She was kind. We asked her if she could tell us whether our baby was a boy or a girl. She said she could. She paused deliberately, and we asked her to tell us. She told us the gender of our baby was a female. I had wanted a girl. It hit me in the gut like a sledgehammer. You know that feeling when the grief just explodes from within you and rushes through your bloodstream like ice. 

ANNAMARIE
When I met Nick, I knew there was something different about him.  As someone who has also had eye surgery (albeit for the much less serious condition of cross-eye and at the tender age of 2), I knew a fellow squinter when I saw one.  And not long after we met we were lit up in a spot light, standing in for the leading man & leading lady of the play that brought us together.  There we stood, in the spotlight, unnervingly close for people who had only just met, and I looked at him, half-closing one eye to the bright light no doubt in a mirror of what I too was doing and thought how funny it was.  Interestingly enough, from the night on we have spent only a handful of nights away from each other.  Our destiny was to meet during this ridiculous play The Lucky Chance when were were at university (and what a lucky chance it was, hehe.  Sorry, that was an awful pun).  We've grown up together, spent the last 15 years being the most important part of each others lives.  And it all started that one Saturday night standing in at a technical rehearsal for every other actor in the play too cool to attend.  

Not long after we met, I began asking questions about his vision.  When I brought it up that night in the spotlight he brushed it off, in the way someone who has an unusual condition that takes some explaining does. We seemed to know almost immediately that the other person wasn't going anywhere, that this was serious, so I persevered.  I started coming to his eye specialist appointments and being that annoying squeaky wheel.  For those around him, including his specialist, this was a condition that had been discovered at age 3 so there was a sort of resignation.  But if I was going to spend my life with someone, I needed to know.  What caused this?  What could be done to fix it?  If it couldn't be fixed, what would happen to his sight?

After being seen by other specialists, who all advised Nick was already under one of the country's best Ophthalmologist's and there wasn't anything they could do, we were back at square one.  But that top specialist must have been sick of my asking about all the different options we'd read about, so suddenly it was as if a light bulb went off.  There was someone - a Professor of Ophthalmology - if anyone could help he could.  And so started the journey that would change Nick's life forever.

This man, this amazing Professor of Ophthalmology at the University of Auckland, had only performed the type of corrective surgery a handful of times.  There was a huge element of risk.  If something went wrong on the good eye, there was no back up.  The other eye had such poor vision, he would be blind.  So after a three-hour intensive surgery, 24-year old Nick woke up from the anaesthetic, and while being groggily helped to the car and on the way out of the building stole a glance out of the plastic eye cover to a world he'd never seen before filled with bright colours and sharply clear objects.  I remember him saying "Oh my God, that car is so BLUE".  And then this amazing man, who we owe so much to, also referred us to a Genetic Ophthalmologist.  Who knew that existed?  An eye specialist who looked at genetic links.  After many consultations, discussions of family trees, meeting his other family members, sending Nick's blood off to the States for testing, we had an answer.  There was a study into a rare gene, one of the anomalies it caused was the eye condition Nick has.  Nick was a carrier, but I was not.  It would be incredibly unlucky for us to pass this on to any children.  At 25 and not ready to start a family, this information was merely stored away.  But we had the answer that Nick had been wondering about his whole life - now we knew, he was a mutant, a rare special one like the X-Men but where his super power is incredibly poor vision.

When I thought about having kids in following years, I just knew I wasn't ready.  It took 5 years from when we got married til when we started trying.  Every time we talked about it, I put it off.  I would take out this nugget of information about genetics, poke at it and then store it away.  I always felt that I would spend the whole 9 months wondering about what kind of child we were bringing into the world, whether it would be healthy.  That combined with the fears about giving up my own life, sacrificing my own time for a needy tiny human, let alone the biggest fear - how that tiny human would actually come out! - well, a baby wasn't something I was ready to sign on for.  

When we actually did get pregnant the first time, I never wondered, never worried once whether he would be healthy.  I guess I was a little preoccupied vomiting all day, losing 10% of my body weight, suffering depression and being malnourished to worry about that.  The same could be said for my fear of giving birth.  Anything that stopped this nausea, got this little parasite out of me, was totally worth it.  A little pain after months of debilitating nausea?  Pahhhhhh... that's nothing.

And similarly because Sam has always been healthy (bar a blip at birth due to his entering the world before he was ready), I never worried the second time.  The second pregnancy was meant to be a healing experience for us, a chance for us have a better birth experience, less traumatic.  For me to appreciate the first few weeks rather than be in a painkiller fog post c-section.  Obviously our attempts to heal old wounds ended up causing bigger ones, and if we could go back and change our minds about it, no doubt we would.  But when we made the conscious decision to add to our little family, we never ever considered something would go wrong.

But genetics weren't at fault here.  A quirk during conception was.  Why is it that my egg decided to let 2 sperm fertilise it?  Why, when nature says that's impossible?  Why does that then cause this rare condition that makes the mother incredibly sick and essentially growing a cancer?   Why, when T.J was never going to survive did she hang on for so many weeks making me sicker and sicker?  Why was this incredibly rare defect never picked up?  So many questions, no answers.  It wasn't our fault, we couldn't have prevented it.  We were just unlucky.  We were unlucky.  I wonder if anyone who loses a baby, no matter what the circumstances, is ever comforted by that?

NICK
I had questions too. I felt relief that it wasn't my genetics at fault, but I also felt helplessness.  If this rare thing can happen to anyone, at any time, then what is the point of planning? Why fight when the world can just sucker punch you at any moment?

I guess that is what this post is about - where is the line between what you should care about and try to influence, and what you can just leave to fate? You might say it comes down to what you have control over - but that's fluid too. If I try hard enough I can control a lot of stuff in my life (my schedule, my body, my work) but at what cost?

I've always been a more "hands off" guy in general. I don't necessarily believe in fate, or that anything is "meant to be" - but I also don't believe in frittering away your happiness trying to influence things that you have limited control over. Getting married, and then having children, has challenged that view of the world. If it's just me on the hook, I can let most things slide - but what if something is endangering (or even just inconveniencing) my wife or my child? How far should I go to protect them? And when does "protection" turn into "control" and become hurtful?

In the end, I think the one thing you can control is your perspective. We do not know if there is anything we did, directly or indirectly, that led to the death of our baby. There could be long-run causes that nobody even knows about now.  Maybe a million little events came together or maybe it was one simple thing we needed to include or exclude from our lives that, years later, doctors will understand and recommend to all aspiring parents. But we can't control that - all we can control is what we did with the situation we were handed, and how we think about the experience now. 

They say perception is reality. I've said it a lot of times, often to members of my team at work who might be doing great stuff, but have created a negative perception of themselves because of the way they deal with others. But there's deeper levels to it, I think. A scientist might tell you that we only perceive a thin slither of what the world actually is with our five senses (or even that what we perceive is completely false). Our "reality" is really just a reflection, a mental construct that we piece together from the limited input we have access to. Does a blind man experience a different reality (I'm blind in one eye - does that make my reality different from yours?). What if you had a fully functioning body, but no working brain - you could "see" and "hear" and "taste", but you had no way to process those sensations. Are you even experiencing them? What sort of "reality" did our unborn baby daughter experience? 

OK, we may have gone a little of the existential deep end here, but my point is that in a very real sense, we can choose what we believe. That can be harmful if you're just denying reality (hello there, President Trump), but in the absence of conclusive information I think we can create the reality that best serves us. You could argue that's what religion is built on - there's a gap there where none of us are really sure, so we fill it in with stuff that helps us to move forward with our lives. Does it matter whether it's true if it's working for us? 

We can choose to wrap ourselves up in guilt and regret and doubt and fear. I have done that, plenty. Sometimes I still do. But mostly, I choose to believe that this is one of those random events, struck by lightning, hit by bird shit (albeit a great big pile of bird shit). I choose to let go of my guilt. I choose to believe we did all we could. What else can we do?

I remember the night before we found out T.J. had died, Sam and I were singing to her, as Annamarie lay in bed. It was a lovely moment, one of those things you know you will remember forever right after it happens. I now realise we may have been singing to a dead girl. I could believe that. Or I can choose to believe that she heard us. I can choose to believe that she knew she was precious, wanted, part of our family. I choose that. I choose love. That's my reality.