Nature vs Nurture, part 1.

If I was to continue blogging in chronological order this is perhaps not the next post in line. However this one is a biggie, one that will be added to over time and one which is obviously a whole minefield of emotion. I’m going to cover this post in two parts basically because that’s how our journey happened… The second part is still ongoing and this I suppose just is what it is.

What happened to his hand and why? – The why? question is obviously on the tip of everyone’s tongue when any child is born differently. Why him, why me and Matt, why his hand. It is mixed in there with all the guilt, confusion and fear. The general consensus when Ivan was born is ‘we really don’t know’. Everyone was reluctant to give an answer… probably a vascular event… just one of those things… you’ll never know for sure.

On March 8th 2013 that all changed.

In retrospect I should have realised what was going to happen as soon as we turned up at genetics clinic. The waiting room was empty. Everyone is given time slots for genetic counselling which shouldn’t overlap, so when you get your bad news you don’t come out into a waiting room full of people. We’d been referred to the clinic as a box ticking exercise by our paediatrician, she told us that his hand was ‘one of those things that sometimes happens, but it’s worth them reviewing him to cross it of the list’. We had planned a shopping trip later and were chatting happily.

The clinical geneticist sat us down, a nurse present to clear up anything you didn’t understand. She checked over the details I’d given her a few weeks before on the phone, she asked a few questions, poked and prodded Ivan a little and we sat on the plastic chairs waiting for her to tell us to go home.

“Ivan’s hand isn’t caused by amniotic band syndrome*, and as I can find no other indicating factors to point to a event in utero. Ivan’s hand must have a genetic cause”

“Sorry, are you saying that Ivan’s hand difference is genetic?”. I could hear Matts tone change, his voice slightly higher and louder; he was angry. We weren’t prepared for this. This wasn’t a ‘just one of those things’ talk.

I desperately searched my brain for the questions I knew I should be asking but I hadn’t known I’d need. My brain raced around in circles. A lot of what she continued to say was lost in a soup of my own thoughts.

“If the gene is recessive you have a 25% chance of having another child with the same genetic problem. If it’s a new dominant just present in Ivan you have a much smaller chance…. So right now I would say statistically you have somewhere between 10 and 15% chance.”

“Does that mean another baby would be the same as Ivan” I blurt finally collecting my thoughts enough to form a question. I expect her answer to be maybe, I expect her to say they could have a little hand too, that it’d be the right one like Ivan’s ….

“Perhaps….” She waffles on a little talking odds and how limb bud development works and then said the words that I’ll never forget hearing. “…Worst case scenario; the baby could have no hands or feet at all”

I felt like someone had pulled the chair from underneath me, my head span. This woman did not understand what she had just said, what this means to us. In one sentence she had taken away my future children. She had made me responsible for his abnormality. She had changed everything.

The geneticist carried on talking, i think Matt asked some questions. I could hear the indignation in his voice, he didn’t believe her. Nobody else had even gave the slightest suggestion it could have a genetic cause. I wasn’t taking in anything said, 25% and no hands or feet circled round in my head in a sickening spiral.

“What about Ivan? He’s okay isn’t he. He won’t pass it on.” I know from their reaction to my question , from the nurse starting to talk in her well practiced sympathetic tone that they’ve already covered this and I’d just not taken it in. It’s too much to process at once. I’m starting to unravel.

“If it’s a dominant gene, Ivan has a 50% chance of passing it on”

50% no hands, no feet… 50%…

I feel like I’m trapped in a nightmare, we had gone from nothing to a complete life changing ‘diagnosis’. Everything she told us was full of ifs and buts. She was unable to give us any real individualised information. She couldn’t tell us whether the gene was dominant or recessive.

I don’t think I can explain how it feels to be told that your child and even your possible future grandchildren’s futures’ could be significantly affected by a condition you have passed on to them. I don’t think I could even try, the rest of this blog could easily become a weepy self-pity party rather than focused on how lucky and proud I am to have my beautiful boy. Like the possibility of disability it’s something I had never considered before. Yet it happens to thousands of people every year, be it an inherited disease process or an increased risk factor. Being genetically responsible for my baby is not something I’d considered in much greater depth than what colour eyes he’d have or who’d he look like. Ivan may not be so lucky and may have extremely difficult decisions to make in the future.

We are currently taking part in the Deciphering Developmental Disorders (DDD) study put forward as candidates from Sheffield Children’s Hospital. If Ivan’s hand abnormality has a genetic cause the study is our best chance of receiving answers regarding the genome affected and the implications for the future. However it could take 2 to 5 years to receive all the findings, and they may be unable to give us any answers.

Our paediatrician was so floored when she received the report from the geneticist that she had to call and go over it verbally to ensure that she had understood correctly. I hold no anger towards her for leaving us unprepared. Based on research we have done independently and the information and advice provided to us by the charity Reach we have requested that we are referred to a specialist in hand abnormalities in order to gain a second opinion . We are currently liaising with several people in order to try and arrange this in the hope of gaining a diagnosis for Ivan’s abnormality. As mentioned right at the beginning of this I will cover that another day. I think this post is long enough.

*Amniotic Band Syndrome (ABS) is a congenital disorder caused by entrapment of fetal parts (usually a limb or digits) in fibrous amniotic bands while in utero. The constriction rings cause disruption in blood supply to limbs, digits and sometimes even parts of the face which causes them to malform. It affects roughly 1 : 1200 live births. 80% of ABS affected people have hand or finger related abnormalities.

Ivan’s hand is categorically not caused by amniotic band syndrome.