Oliver David – our very wanted and prayed for baby.
Although I felt rather sick during my pregnancy, it seemed textbook. I blossomed and totally enjoyed feeling our little one growing and kicking inside me. In hindsight (after having a second baby without Cohen Syndrome), I realize that although Ollie was active, his movement was reduced.
At 38 weeks after 'premature rupture of the membranes' and three failed inductions, 'Ollie' was delivered via emergency c-section due to being undiagnosed frank breech. He was 6lb 11oz and came out sobbing. The most heart wrenching, soft little sob. When I think of it seven years later, I still get a lump in my throat. All of the hospital staff in the room went, 'awww how sad', but alarm bells didn't ring for anyone – even when my husband and I said he sounded like a little kitten.
Apart from taking a while to get the knack of latching on and suffering from prolonged jaundice (never severe enough to warrant a stay under the lamps), Ollie thrived. He rolled over on time, albeit once, smiled, giggled, and sat up on time. He had the brightest eyes and we were often stopped by strangers saying how beautiful and alert our baby was. And he was. With a mass of thick blond curls and bright blue eyes, Ollie was (and still is) a stunning looking little man. He made eye contact, loved stories, loved food, loved his sleep and was so happy. I don't think Ollie cried more than a couple of times in his first year of life (apart from when I took him to 'Monkey Music' and he hated all of the raucous and chaos). My husband and I lacked humility and thought Ollie's wonderful nature was because we were such good, calm parents. And actually, we are good, calm parents. But we have also been blessed with a little boy with an amazingly sunny disposition. He is such a wonderful soul to parent.
When Ollie was 9 months old, our world started to get a bit shaky. The health visitors (we lived in the UK until Ollie was 4) were concerned that he wasn't bearing any weight. And so, from 9 months old we were in constant therapy, having constant tests, and in a state of MASSIVE denial (which we believe served us and Ollie well). Ollie was never late to do something in those early days but on the later side of 'normal'. We genuinely believed in Ollie's intelligence and still do. We fought hard to prove doctors wrong. Before Ollie was 2 his neurologist told us to look at wheelchairs as she said he would never walk or talk, and would most likely regress. I cried a river in front of her and said that she was wrong.
Physiotherapy began at 9 months, speech therapy at 14 months, and we became manic researchers and advocates for our boy.
Ollie was tested for Prader-Willi Syndrome, Partial Agenesis of the Corpus Callosum and Fragile X Syndrome. We knew he didn't have these as they just didn't fit. In the meantime, we carried on with the therapy thinking he would grow out of whatever it was.
I became obsessed with finding out what was going on with Ollie when I was pregnant with our second child. I NEEDED to know and was unstoppable. Just after the birth of Ollie's little brother (Ollie had just turned 5), during a frantic 'googling hour', I came across a picture of a little boy with Cohen Syndrome. He had a look of Ollie about him and when I read further my heart lurched – I knew then that Ollie had Cohen Syndrome. I immediately sent Ollie's pediatrician all of my research and he agreed. We saw a geneticist within the month and received a clinical diagnosis. Within a year, genetic tests confirmed that Ollie does have Cohen Syndrome and my husband and I are both carriers.
Unfortunately, rod/cone dystrophy is part of Cohen Syndrome, which we quickly discovered after the initial diagnosis, and Ollie has been severely affected by this. He lost a lot of vision rapidly and now uses a cane a lot of the time. This breaks our hearts. It is absolutely the worst aspect of this syndrome. His learning needs can be catered for, his sensory needs can be indulged and regulated, but there is nothing we can do to help his vision and that, for us, is horrific.
BUT we find joy in Ollie and everything he has achieved. He is phenomenal and has defied the odds in so many ways.
He took his first steps 'aided' before his second birthday and walked, ran, and kicked a soccer ball independently all at 33 months.Ollie said a few isolated words at 2 (communicated in sign); now at 7 years old he does not stop talking. He is very clear and has a brilliant imagination.
He swims like a fish. He can read. He write's 'bff' (best friend forever) on notes to his friends. Ollie plays the drums. He goes to a mainstream school and gets invited to parties. He has a girlfriend (cuteness!). And, Ollie has the most amazing, sophisticated sense of humor. When we are around Ollie, it is impossible to be anything but happy.
Ollie has Cohen Syndrome, but he is not Cohen Syndrome. Ollie Walton is a 7-year-old boy from New Zealand. He is perfect.
Please visit Andi's blog http://nocohenback.blogspot.com/ if you would like to check out more great stories about amazing little Ollie.
