Awareness

This week is Cri du Chat awareness week. I don’t use the Cri du Chat title very often when talking about Olivia’s syndrome. I usually call it by the medical name of 5p- syndrome. Why? Because Cri du Chat mean, quite literally, Cry of the Cat. It describes one symptom of Olivia’s syndrome, a symptom that went away.

But most people know 5p- as Cri du Chat.

So yes, Olivia has Cri du Chat syndrome. She is missing part of her fifth chromosome, part on the short arm, the p part.

Most people have never heard of Cri du Chat. It only affect 1 out of 30,000 to 50,000 people. It comes with a variety of symptoms. Low birth weight, small head, low muscle tone, cat cry at birth, universal developmental delays and yes, mental retardation.

It’s hard for me to write that. It’s hard to read it. When Olivia was seen by a geneticist soon after her diagnosis when she was just over two years old, I sat and listened to this doctor list everything about Olivia. It was a very cold, very clinical visit.

When I got the report from the geneticist, it stated, in black and white, that mild to moderate mental retardation was likely.

I threw that report away.

Now, I know that just tossing a piece of paper in the garbage isn’t going to make the words go away. It isn’t going to take away the possibility of mental retardation out of the equation for Olivia, but I couldn’t have something like that laying around, even filed away in our home. Our home was a place where possibilities are endless, where Olivia was already proving doctors wrong and I wanted to keep that hope alive and not dwell on a single piece of paper that was sent from a doctor who was cold and clinical, who looked at Olivia like she was a science experiment rather than a person, a human being with feelings and potential lie everyone else.

Olivia was the first person this geneticist had seen with Cri du Chat. She’s likely going to be the only person any of her teachers or therapists ever come into contact with who has this syndrome. She’s teaching us all every single day, even as she learns herself.

It took over two years to get O’s diagnosis because she doesn’t have the facial features that are common in children with Cri du Chat.

People see her bright blue eyes, her curly blond hair, her wide smile and her contagious giggle. They might hear her soft, higher-than average voice, but they often think she’s just shy.

But Olivia is verbal, she’s mobile, she’s active, she’s smart. She often keeps things to herself until she masters them and then she’s off to show the world how amazing she is.

Early intervention is very important for babies born with Cri du Chat. They need to be shown how to do things that come naturally to typical children. Olivia had no instincts for sitting up, crawling or walking. But she has muscle memory and once she learns something, she doesn’t forget how to do it.

Most of all, children with Cri du Chat love. They love life, they love the people in their lives, they learn, they laugh. They are beautiful, loving children and adults who want nothing more than to share their love of life with those around them.