U is for Unique

Sam Bowen's avatar

by Sam Bowen

We all like to think we are a unique don’t we? A bit special, destined for some cosmic purpose only us as individuals can achieve.

Then at around aged 15 we grow out of this misconception and join the herd into ordinary lives, like the ones everyone else is having.

To some extent we are unique in that we are shaped by our experiences and environment. Our upbringing, school life, sex life, social life all add their markers to our personalities and attitudes.

Our genes, unless we are an identical twin, are unique to us in the tiny adjustments that create our eye and hair colour, height, build, skin colour.

That funny long second toe you have, that your Aunty also has? That’s genetic.

The fact that you can curl your tongue and your brother can’t? Also genetic.

Genes also pre-dispose you to certain illnesses, like Dementia, Cancer, and a long list of others that may or may not happen to you.

These differences in collection may make you unlike the person sitting at the desk next to you in the office. 

But chances are you are both genetically ‘normal’ or ‘Neuro Typical’ and the word Normal is the polar opposite to Unique! 

On the whole the majority of humans have 23 pairs of chromosomes sitting in the right order. To paraphrase Morecombe and Wise, they have all the right notes in the right places.

To be truly unique, as in the only one in the world with a particular, peculiar genetic code sounds special doesn’t it?

It’s the ultimate one up-man ship from everyone else, almost Alien to our species.  

In reality it’s more than a bit of a pain in the backside.

My wonderful daughter is genetically ‘Unique’ she is the only one on record with her exact unbalanced translocation – which I’ll just add is: arr 4q35.2 x1, 11q22.2-25 x3

In case there is someone out there reading this that has the same! Do get in touch!

Through the wonders of the internet I have found one other child in another country who has a very similar Karyotype, but as we know with genes, one small difference can make a huge difference.

We keep in touch regularly and it’s lovely to see her daughter growing up.

She has had many of the same issues as us, all the same operations, but there are some important differences too.

Which is where the unique bit becomes a pain.

More commonly known genetic conditions such as Down’s syndrome have clearer guidelines as to what needs the person affected will have.

Although there is a wide range of difference between individual people with Down’s, there have been enough recorded cases to develop care pathways and information to parents at diagnosis.

There are also support groups, education systems, in short a whole world waiting dedicated to this condition.

Which is great, there should be, but when your child’s condition is unique, the difference at diagnosis is huge.

So we are I guess writing our own set of guidelines, finding things out as we go along, even educating medical staff who we meet along the way.

We joined the wonderful charity Unique, because they understand what it’s like.

We haven’t joined SWAN but I know families who have and similarly have been very supported in this sometimes lonely situation.

To be the only one, to be truly unique is special and to be celebrated.

It’s the unknown factors surrounding that uniqueness however, which can be frightening. 

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