Sunday, 14 June 2015

Chromosome imbalance

When I started this blog, I didn't really know where it would take me. All I wanted was to share my experience of living abroad. I didn't really have any plans, but there was one thing I was sure of. This little piece of online ramblings about expat life was going to be mine. And it might sound selfish, but all I wanted to talk about was me, myself and I.

This is mainly the reason why I rarely write about my children. When I do, it's about expat related subjects like bilingualism, cultural differences regarding the school system or how we try to get them interested in their French and Mauritian roots (with mixed results sometimes...).

A few months ago, I thought I might start writing a bit more about my eldest son's autism, but again, I wasn't sure I wanted to because I felt this blog wasn't the place to do it. Then, a few days ago, I had an appointment with the paediatrician and what I learned from him was a bit hard to swallow. So, it might be the first and last post about this subject, I don't know, but for now, I just have to let some steam off. After all, that's what a blog is for as well...

To make a long story short, my eldest son, who is now 7, was diagnosed last year with autism. We waited about 2 years for the diagnostic, but to be honest, I knew since he was 3 that something wasn't right. He had speech delay that we thought was due to speaking two languages at home, but I soon realised there were other issues. I did what every mother would do when she thinks there's a problem: I went on Google. Everything I found pointed to autism (speech delay, understanding issues, poor eye contact, toe-walking etc). Once he was eventually "in the system" (it took about 2 years...), he got assessed by Enable Ireland and after a long year he was finally diagnosed.

Everybody at the time asked me how I felt, how I was coping with the news and so on, but the truth is, it wasn't a shock. No, I had the shock long before, when I realised myself he had issues. I was on maternity leave at the time and the mix of exhaustion from looking after a baby plus my son's struggles made me miserable. I was crying every night, wondering why... Why him? I did everything right when I was pregnant. I stopped smoking, didn't drink, ate well... My pregnancy went smoothly, absolutely no issues at all. I gave birth naturally, it went fast and there were no complications whatsoever... So what happened?? I blamed myself  for letting him watch too much TV, for not interacting more, for not pushing the language issue further, for not playing enough with him, for not reading enough stories...
He has mild autism and his main difficulties are in social interactions. He's not in his own world as such, but it's very hard for him to maintain a proper conversation with anyone for more than one minute (even with me). His language skills are also below par and I am desperately waiting for some speech therapy at the moment. Except that, he's a happy little child, doing OK in school (thanks to all the help put in place) and the other kids in his class seem to like him, even if he tends to avoid them...

Back to the paediatrician office. My son had blood tests done a few months ago, and I didn't think much of it until the other day. I didn't even know the appointment was for the results. Anyway, the doctor told me he had "chromosome imbalance". In other terms, there is a tiny bit of chromosome missing. I don't know which one, and I wasn't even given the report. But the most important information of this appointment was: " If your son ever has children, there's a 50% chance he will pass it on, so we advise him not to have any"

The news were delivered just like that. Without notice. And it hit me like a hammer.

You never really know how life might turn out. Will he be independent? Will he get married? I thought about the future before and in a way, I didn't really expect him to have children , but it seemed so far away that I wanted to focus on the present instead,  and try to help him achieve his potential the best I could.

And now I am faced with the actual truth that he will definitely NOT have children.

The next part was about us, the parents. If we want, we can be tested as well to see which one of us is the carrier of the "wrong" gene. Some people think it would put the blame on one the parents, but I disagree. Let's say I'm the carrier, would I blame myself? No, because it's genetics, and there's nothing I could have done to prevent it. On the other hand, because I don't plan on having any more children, I don't really need to know.

For now, we are on (another) waiting list to meet with a genetics professor in Crumlin children's hospital. It will just be an information meeting but at least we'll have a better understanding of the tests results.

Of course, all of this doesn't change anything. My son will always have autism, and we'll just have to support him the best we can. And he's only 7 so there's a long long way to go...