Thursday, December 1, 2011

More thoughts on receiving a diagnosis

We weren't sure what to expect at our appointment with the geneticist. Neither of us expected to receive a diagnosis so easily. I expected the doctor to say that it could be this or could be that and that we could try to run more specific tests. That seems to be the norm for a lot of people who get a clean microarray result. I kind of expected that we might be looking at a syndrome without a name.

The genetic counselor told us about Kabuki Syndrome and then she left the room to go get the doctor. David said "well, if that's the diagnosis, I'll take it!" We both know that there are far, far scarier things out there.

You might think that it would be sad to receive a diagnosis of a genetic disorder, but it truly wasn't. I had to face the fact that something wasn't right many months ago. It is very difficult to know that your child will have significant challenges doing the things that come naturally to typical children - even simple things like eating, or sitting up, or walking, or talking. When you have a typical child you may wonder when he or she will walk or talk, but you don't ever wonder if he or she will do those things. I suppose it will always sadden me but overall I've come to peace with it. It has certainly helped to read many stories of Kabuki kids who are doing quite well.

There are never any guarantees in life. We all know that yet we seem not to really know it. I've just barely begun to realize how much I take health for granted. I look at Calvin and can't believe how blessed I am to have such a smart, sweet, robust, healthy child. I look at Juliana and I'm grateful for her sweetness too and for the amazing progress that she has made. I think she is a smart and tough little girl.

So we did not greet this diagnosis with any sort of despair - in fact we felt immense relief.  I felt excitement that I could finally connect with other people who were also familiar with this label. Since Kabuki is very rare I've also felt a renewed appreciation for the internet and the way I've been able to connect with people all over the world.

I won't lie - life is very tough right now. But when I have a free moment to reflect on it (preferably this free moment will come at the end of the day and will also involve wine) I can truly say that we are blessed.


  1. you are a strong mama. Thanks for this post. Been wondering how you were doing.

  2. I just want to say how much I admire you and let you know that your family is in my prayers. I found your blog via another blog because my son has some major digestive problems, possibly genetic. I understand what a relief it is to have a proper diagnosis. I am always inspired when I read your blog. Keep up the good work, momma.