Article By – Tanya Smith

When Kody was first diagnosed with Partial Agenesis of Corpus Callosum (P-ACC), at age 4, like everyone, we had no answers to my questions – Why? How? And the one that affected me most “What did I do wrong?”

Years went by and no-one had answers. No-one could tell me why he had mirror movement, why he had an ataxic tremor, why he was developmentally delayed, why he had Autism. And honestly no-one really cared. Over all those years I blamed myself – I had eaten something while pregnant, I didn’t eat something while pregnant, I touched something, I thought something. You name it my overactive mind managed to blame myself.

After the formation of (Australian Disorders of the Corpus Callosum (AusDoCC) as an organisation in 2012, I discovered that there was research being conducted at the Queensland Brain Institute (QBI) into Disorders of Corpus Callosum (DCC). I decided at the time that even if they found no answers for us, they may be able to piece together part of the puzzle for another family and in turn be one step closer to answering my questions.

We moved states in 2013 and the new school psychologist suggested one day that I write down all the little things about Kody we had observed, for future reference for therapists / educators etc. And so came about a very long story about Kody.

When registering for the research with the QBI, I sent along this story, just in case they were interested. It turns out they were interested in the story. He caught the attention of researchers due to his mirror movement and the P-ACC. At the inaugural Connections conference for AusDoCC in Brisbane in 2015, we spoke to a few of the researchers regarding the mirror movement. I mentioned that my daughter also had a mirror movement and my mum mentioned that I used to do the same things as a kid. So it seems that the things that I had taken for granted as being “normal” were in fact not.

Who knew that writing with both hands was not “normal” or being able to ten-pin bowl with either hand was not “normal”. I didn’t realise, I had always been able to do it and so had both my kids.

So further research was conducted – DNA samples, blood tests, brain MRI’s, brain stem MRI’s, neuropsych testing, movement specialist tests, pain tolerance tests. It was an interesting process and we were treated with a lot of respect by the researchers and their assistants.

With the data collected from my family and other participants in the research, the conclusive evidence was found that there was in fact a gene that had caused Kody’s disorder. The research has also showed that my daughter and I have the gene also. We do however have our CC .

So I had my answer – “Yes, I caused Kody’s disorder!”

• Am I upset about this? No, not at all, I did nothing wrong. It is just the way it is, and there is not anything I could have done that would have changed the outcome.
• Would I have liked to have known sooner? Absolutely, earlier knowledge that the mirror movement was actually a structural brain defect would have meant we could have targeted his occupational therapy and physiotherapy better and not waited for him to developmentally grow.
• How would I feel had the research not been conclusive or not been the gene we have? I would have been disappointed. I did have my hopes up that this would have the answers I desperately wanted. It would have however, allowed us to cross off one more item.
• Is research for everyone? I don’t believe so. I think that there are people with the rarer syndromes where research is not going to have any conclusive result which would prove extremely disappointing for that person. However I do know that the need for answers can be very strong, and maybe your DNA is that missing link that will tie all the data together.

So where to from now? While answers of causes may be helpful they will not change the outcome. Kody will always be Kody – the kind hearted, funny, amazingly resilient person that he is. The difference now is that medical professionals, educators, therapists may now take some notice. Take notice that ACC is a primary diagnosis which does have an impact on people with the disorder. Take notice of parents and not dismiss the development delays especially when partnered with a mirror movement.

After years of fighting for recognition I realise that the discovery is not going to change people’s perceptions overnight, but if it can help just one more professional take notice then we are one step closer