Refusing to tick any boxes

October 20th, 2008. After a series of tests, a consultant confidently diagnoses Rubinstein-Taybi syndrome – matter-of-factly ruling out mainstream school for Ellen, who had turned two a few months earlier but was still showing few signs of walking or talking.

The consultant manages to crush our spirits in a whirlwind 10 minutes – among other things, sterilisation was mentioned – but by now we were only half-listening in a fog of confusion and upset.

In the car on the drive home, we mourned the life our daughter would never have, the grandchildren that would never be. Google nearly exploded when we finally got home. It was our lowest point.

A month later Ellen is sitting in her buggy, repeating a rhythmic noise over and over again.

We had heard it before, but it took quite a while before the light-bulb moment: Twinkle Twinkle Little Star.

It may sound insignificant, but at the time it felt like a seminal moment, and today we know it was, as she continues to bridge the once huge chasm between herself and her peers.

Physical improvements came in tandem with verbal progression. Rather than having a degenerative muscular condition she had a regressive one, and she was fighting.

While even today, at 6½, Ellen has difficulty walking and loses her balance quite often, she is strong and healthy and has, thankfully, missed most of the add-ons that often accompany OMA.

For example, despite having classic symptoms of Asperger syndrome – including constantly twirling, flapping hands and preferring her own company – she is far too easygoing and eager to please to tick that particular box.

Even the kidney complications we were watching out for have to date not presented. Some children with OMA develop polycystic kidneys, and end up needing transplants, but Ellen, unusually, has duplex kidney syndrome. When one tube should exit from the kidney into the bladder, she has two – two kidneys, four tubes. Far less serious than what could have been.

Thriving

And academically, she’s thriving – keeping pace with her peers in her second year in primary school in Thurles, and loving every minute of it.

In fact, our biggest worry today might seem a little strange, but will surely resonate with many parents of special needs children. Ellen is doing so well that, in the current economic climate, special needs assistant care and regular access to a resource teacher might well be threatened.

Not because it isn’t working, but because it is.

What’s clear, though, is whatever challenge Ellen is faced with next, she’ll meet it the same way she has in her first six years – allowing her infectious enthusiasm and determination to define her, not any medical condition. We couldn’t be more proud of her.