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.
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.
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.
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.
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.
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’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?
Does your local park include accessible play equipment?