A rare neurological condition, but no one knows a child better than a parent

We learned a hard lesson when seeking a diagnosis of our daughter's inability to move her eyes, writes DAMIAN CULLEN

Good Friday 2007. There was silence in the car. For my wife and me, it was the first time we heard the words that would immediately take over our lives. Ocular Motor Apraxia.

When we come up against challenges in our lives, most of us are ready for them, or at least aware of them. For Ellen, as with many children, challenges were unfortunately waiting for her immediately outside the womb.

Even her birth wasn’t straightforward. Ellen was delivered by emergency Caesarean after doctors became concerned about her wildly fluctuating heart rate. They found the cord was wrapped around her neck three times. It was another few months before there was an inkling something might be amiss. Ellen missed the usual early milestones, and we had particular concern over a lack of eye movement.

Blinding virus

Two decades earlier, over a period of about seven months, a virus had deteriorated my own eyesight to the point where I was fully blind. The first doctor my parents brought me to believed I was faking in order to skip school. The last was an ophthalmologist at the Mater hospital in Dublin, Michael O’Keeffe, who worked tirelessly to restore my sight.

Naturally, he would be the only person I would trust with my daughter’s eyesight, so Ellen was brought to see the Prof, who recognised ocular motor apraxia (OMA). She was eight months old. As we drove home, both of us were quietly wondering what lay ahead for our little girl.

Google immediately became our friend, and then, just as quickly, our enemy: we researched, read and worried about learning difficulties, social problems, kidney complaints, etc.

OMA is characterised by the inability to voluntarily move the eyes (also known as saccade initiation failure). And the severity of an alternating divergent squint had caused Ellen’s eyes to stop working together, a (unfortunately permanent) defence mechanism by the brain. However, it was the associated conditions that seemed to follow wherever OMA presented which prompted the most worry.

Ellen’s neurological condition is still poorly defined, and there appears to be little chance of it being any clearer in the short term. There is even disagreement in the medical community as to whether OMA is a symptom or a condition in itself. All that is certain is that it does involve dyspraxia and a difficulty with balance and gait as well as developmental delay.

Hard-learned lesson

And so began a seemingly never-ending merry-go-round of specialists: paediatricians, ophthalmologists, geneticists, paediatric physiotherapists, psychologists, occupational therapists, neurologists, psychiatrists, speech and language therapists.

We’ve come to realise, however, that no one – no one – knows a child better than a parent. It was a hard-learned lesson.

While all the consultants who saw Ellen were fascinated with encountering a relatively rare condition, few were confident enough to venture an opinion on the underlying condition. A few did, however.

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.