Rett Syndrome

We took Niamh to Westminster Hospital the other day.

It’s been on the cards for a long time.

We were referred over a year ago to the UK Rett Specialist.

Our appointment came through and on a Monday a few weeks ago Niamh, R and I hopped on a train and went to London.

This guy we were off to see diagnoses children through symptoms… regardless of genetics.

I mean it makes perfect sense to me. Diagnose what you see. Genetics are complex. We know this!

Before I met this doctor, I knew I’d like him.

Anyway, we rocked up and were greeted (on time) by Dr L at the reception.

I’ve got to be honest; MY experience of the NHS service is pretty poor.

But this meeting was brilliant.

We were in the room for two hours.

There were six specialists in the room with us and lots of questions were asked. They were hugely engaging with N and for part of the meeting they took N off and played with her, observed her and got to know her a little bit.

At the end of the meeting Dr L explained that there are four major symptoms of Rett Syndrome that define it and N has all four of them.

He then said that N does have Rett Syndrome (not the Atypical version - that is if they only have two major symptoms and some minor symptoms.)

And there it was.

Clinical diagnosis.

No “umming” or “ahing”. No grey areas. No uncertainty. Black and white.

Two hours with one person and his team of specialists.

TWO HOURS.

We’ve done two years of sitting through the most pointless meetings with people who quite honestly weren’t qualified enough to have an opinion… and proving it with their lack of information or useful input.

But FINALLY!!

A man who knows his potatoes!

And I suppose (as he said himself) it’s time to crack on.

Rett is not degenerative. Their words not mine.

Genetics are pretty irrelevant… they’ll get there at some point… but it’s not going to change anything. 

All I can say is that it’s weirdly comforting.

I suppose the big question is… so what happens now?!

And the answer?

We carry on.

We continue to throw everything and more into N and help her as much as possible to reach her potential with whatever she wants that to be.

We accept it, whole-heartedly, as the beautiful chaos that it all is.

The truth is, I don’t know any different. I have no parenting comparison to make on what life with a daughter is like.

Don’t get me wrong, it breaks my heart that I’ve never heard N say “Mummy”, or the milestones she’s reached aren’t quite the same or on time with the norm… yeah, that fucking hurts.

But there is something else quite golden about it. Something unexplainably magical about what we get to experience.

It’s broken all the boundaries and beliefs of everything I’ve ever thought or learnt about family and parenting.

It’s totally outside the box. 

And that’s ok.

October is Rett Syndrome Awareness month. 

I’ve got to be honest; I never really know what that truly means, or what one is supposed to do with it.  And I mean that with any kind of “awareness” month, week or day.

I battle with the thought that awareness is great but it doesn’t change the reality. I can shout about RTT as much as I like. But it isn’t going away.

Quite a negative thought isn’t it, coming from old enthusiastic Dolan over here. 

But I do, I struggle with it.

It’s also Niamh’s birthday this week.

She is going to be four.

FOUR.

I’ve parented for four years.

She has been my housemate and sidekick for that entire time.

And she is the absolute fucking best.

Don’t get me wrong. we irritate each other. We live in each other’s pockets and she’s not a fan of my music choices 99% of the time.

I’m an embarrassing mum.

I’m too loud at times and I always forget to brush my hair.

I won’t let her eat chocolate but I will sit there and eat biscuits, whilst I make her have the ultimate super food breakfast.

She battles with the world’s second most common cause of severe disabilities in females.

She has to watch whilst her friends run around chasing each other and playing together with ease.

She can’t say if she’s sad or wants something.

She can’t even hold my hand without me placing each little finger in-between mine and clasping her tight.

Yet she keeps smiling.

She is the biggest ray of light in a seemingly complex and shady world and I will always be eternally grateful to her.

So I dedicate this month to Niamh.

I want to bring awareness to everyone about her.

To the four year old that has changed my life for the better.

So here’s to you kid.

You are pure Magic.