Whats Rare is Wonderful Right?

Before Noah was diagnosed we were told there was a chance he had one of two rare syndromes.

One of which was life limiting and the other which was Escobar Syndrome.

Now it was a very strange moment because and this might sound weird to some of you, but we were delighted it was Escobar Syndrome because it meant that Noah would have a chance at a relatively normal life.

He would develop as normal mentally and should live a normal life expectancy.

And not only that we could also pretend that the syndrome was named after an infamous drug lord (its not by the way).
Now that I think about it Noah has been mad to grow a moustache lately mmmmm…??

Mr Escobar

But on a serious note what became very hard after a time was realising how rare Noah’s syndrome was.

So rare in fact that there are no cases in Ireland and there are no confirmed numbers of how many cases there are worldwide (we think maybe 100).

And with something so rare there in itself is a form of isolation and the lack of true understanding.

I will never forget the day after Noah was born a social worker came down to the neonatal unit to a family who had had a baby with a more common disability and proceeded to give them all the information on the various services financial and otherwise they could receive.

She never came to us.


A couple of weeks after wards I expressed how upset this had made me feel and I did get an apology, but it made me think.

I wonder do other families with an undiagnosed or rare condition experience the same obstacles within the system because when there is a lack of knowledge and understanding the easiest path for those care givers to take is to ignore?

I also sometimes wonder if like some other disabilities Noah’s was more common that I could make more strides in changing the future for him.

Will Noah ever meet someone who is like him?

Will I ever personally get to meet a mother who knows exactly what it is like?

There are so many questions?

Looking back, we had made the decision to not tell anyone and I mean anyone except our two parents what Noah’s syndrome was.

Nobody knew what his syndrome was until just over 2 years ago.

Because put simply we didn’t want Noah’s syndrome to define who he was.

And it hasn’t.

Noah isn’t Escobar Syndrome he’s Noah Myers the one and only!!

All our love
Our Wheely Big Journey


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