G is for .... Genetics

Sam Bowen's avatar

by Sam Bowen

If it wasn’t for a ‘faulty’ or ‘quirky’ set of genes that’s totally changed our and our daughter’s lives, I’d really think genetics was cool. 

It’s an interesting subject, fascinating in a geeky and absorbing way, just a pain in the arse when it goes wrong and affects those who you love most.

I wish I’d paid more attention in sixth form, as I did A Level Human Biology (I didn’t pass mind!) however, that was back in 1990 and still very early days for the field of Genetics.

We learnt about DNA (deoxyribonucleic acid) and the fact that humans have 23 pairs of chromosomes, making total of 46.

We drew diagrams of how characteristics from each parent are inherited as each gives half of their chromosomes in the creation of an embryo that becomes their child.

We learnt that if a baby develops three of chromosome 21 (trisomy) they are born with Down Syndrome. We didn’t learn about any other genetic conditions inherited or otherwise but focussed instead on the much less taxing origins of eye and hair colour.

Nor did we look at how common some of these conditions are. When you read in a text book about genetic anomalies at the age of 16 it all seems a very distant problem and one you could never imagine happening to you.

Fast forward two decades and I suddenly really wanted to know more.

My husband and I were suffering from what Doctors called ‘unexplained infertility’ and so we underwent IVF. We asked all the wrong questions in our quest for answers and I’m not big enough to ever forgive that IVF clinic for not doing due diligence.

There really is no such thing as ‘unexplained’ or rather nothing should be ‘unexplainable’ they just hadn’t found the reason for our infertility yet.

But there it was, waiting in the side wings and a simple test, much less expensive than some of the others we did, would have revealed the cause.

A balanced translocation. A bit of one chromosome swapped with a bit on another one. A pair of odd socks, but at least a pair, or more accurately two pairs of odd socks!

People with balanced translocations often don’t have any physical symptoms (except sometimes sub or infertility) and it is estimated that as many as 1 in 500 people have a translocation of their Chromosomes. That’s an awful lot of people! It also becomes a lottery on the outcome of their offspring as they have a 50% chance of being ok (either inheriting the ‘normal’ chromosomes or getting the balanced set)  the other 50% chance is that the baby inherits either of the translocated chromosomes (the abnormal ones) and subsequently has an unbalanced set, which will affect them.

In our case that’s exactly what happened and we didn’t find out until Lucy was two days old.

So, launch us forward six years and our delightful, strong, charismatic and gorgeous daughter has taught us a thing or two about Genetics herself.

Like how being unique is not that useful for finding out information about health issues. All of those we had to find out for ourselves by asking for tests.

Children born with Down Syndrome have what’s called a ‘care pathway’. There are enough children born with that condition to warrant a list of tests to rule out possible health issues, heart problems being a major one.

I asked for Lucy to have a heart scan prior to her having hip surgery as I was worried about the effect of the anaesthetic if there were problems, I only thought to ask because of my learning about Down Syndrome.

Guess what? She had a hole in her heart (an ASD) that grew so big that at 2 ½ years old she needed open heart surgery to sew it back together. I dread to think what would have happened had I not asked.

Similarly I asked for thyroid tests which came back as borderline and are now watched regularly.

It makes me furious that Doctors still use rarity as an excuse for ignorance or even worse apathy.

Why not be extra cautious and test every child born with a rare chromosome arrangement for at least the most common health issues?

We have also found the opposite problem, where Doctors keen to improve on their learning, probe us for information about Lucy’s genetics.

We once went to a well known children’s hospital in London for an MRI scan and were literally pounced on by a Doctor who freely admitted that she wanted to know more about Lucy for her own learning so that she could “help others like her in the future” – when I asked what she meant by this she said “you know, other kids with Downs” – I calmly pointed out that Lucy doesn’t have Down Syndrome and even if she did, that would not make her exactly the same as another child with that condition.

In fact I ended by telling her the best advice “to treat every child as an individual”.

I might have failed my Human Biology A’ Level, but in that moment I realised I had more knowledge about genetics than that ignorant Doctor.

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