Well, little Charlie Bear, light of my life, today your neurologist sat us down and broke the news. 

You have Rett Syndrome. 

In the letter from the geneticist, it said:

Charlotte’s result is consistent with a diagnosis of phenotype p.Arg168X, known to have a particularly severe disease course”.

It wasn’t entirely unexpected.  

We know that Rett has been on the radar for some time, but as Daddy said to me afterward, “Just because someone warns you that they’re about to smack you with a cricket bat, it doesn’t hurt any less when they do.”  

How right he was.

We’d already educated ourselves a little about what Rett is and what it means for you, and for us.  

Rett is a girls’ disease.  

Because it occurs on the X chromosome, little boys (with their XY combination) usually don’t survive much past birth, if they get that far.  

Little girls have a spare copy of the X chromosome to compensate for the faulty one - just like you – and are completely healthy and developing normally – just like you – and then suddenly they begin to lose their skills – just like you. 

Girls who could walk and crawl forget how to, and words that came easily don’t come at all.  

They lose hand control and can’t do the things they love, like turn the pages of a favourite book, or paint with a brush, or use a spoon to eat ice cream.

All of these things happened to you, baby girl, and we couldn’t do anything but watch as you withdrew from us.  

You stopped crying, stopped smiling, stopped laughing, and even stopped responding to your name.  

You seemed so far away, locked in a place we couldn’t reach.  

Sometimes you would look into my eyes at bedtime and I could see how much you wanted to come back from there. 

In Rett stage two, where we think you are, girls may recover a few of these lost skills, but the outlook is pretty bleak for your type.  

Stage three can last for a decade or more and is a plateau before degeneration in stage four.

We – and you – are determined to make the most of this period of recovery.  

With love, time, and a whole lot of therapy, we can see your beautiful personality shining through again.  

You giggle like you used to, you smile when someone says your name, you’re letting us know when you like something – or not.  

At four years old, you can sit unaided again, and pivot on the floor.  

You’ve even taken a few steps with the help of your Upsee and a walker!  

You love music and hate baked beans, love Peppa Pig and don’t care much for being licked by amorous puppies.  

It’s been an amazing journey, and we’re so proud of you.  

Communication is tough, but sometimes you can force out a syllable or two, and the sound of your voice is music to our ears.

All of this we knew yesterday. 

We didn’t know that your type of Rett has been associated with sudden death due to an electrical fault in the heart.   

We were sent from neurology to cardiology immediately, to have this tested.  

You needed a QT interval below .440 to be safe, but yours was .472.  

You’ll be referred t o a cardiologist soon,” they said, “but in the meantime, try not to worry”.  

Daddy and I cried a little in the hall, then wiped our tears and took you out for a pizza. 

Because what else do you do when everything – and yet nothing - has changed?

More like this please...

Browse Firefly's Store...

Things you might like

Other articles you might enjoy...

Survey icon

Public Opinion…

Does your local park include accessible play equipment?