De Novo

It's a term that's been thrown around since the early days of our genetic quest. Is Collin's condition inherited? Is the gene recessive? Is the mutation de novo?

I admit that I didn't really know what it meant at first. Technically, I knew it signified that Collin's genetic abnormality, whatever it was, occurred spontaneously and so was not inherited from either parent. But what about the actual words de novo?  What was the root meaning? For years, I assumed that it meant 'from nothing', as in 'out of nowhere'. No purpose. A random accident.

But when we received Collin's diagnosis in late 2013, I found myself needing to know for sure. It felt like a crucial step to my word-loving brain in the processing of this new information.

As it turns out, I couldn't have been more wrong. In reality, de novo translates as 'from the beginning,' 'afresh', 'anew', or 'beginning again.'

My breath caught as I read those words for the first time and my eyes stung with tears. It reminded me that Collin was Collin from the beginning of his life. That this particular genetic feature was created afresh and, despite the accompanying challenges, brought life anew.

In my original interpretation of de novo, the mutation in Collin's genes brought an end to the child I had hoped to have. But with my new understanding, I saw that it was my own expectations I had laid to rest.  That our very lives as parents were de novo. And that the three of us had been beginning again all along.