About a year ago, I came home one day, arms full of toys, my son’s half eaten Happy Meal, his water bottle, and grocery bags and saw the light from our answering machine blinking in the kitchen. After setting everything down, I pushed “play” while I made an effort to put some things away in the fridge. My son found yet more toys and brought them in the kitchen so I could, undoubtedly, step on a few when I left the room.
The message was from some lab or another telling me to call them back because my son had been referred by his pediatrician for genetic testing. Genetic testing. How will that help my son? The first thought I had was that this was solely for the future families that ended up with a child on the spectrum. This was not going to help my son right now and, in my admittedly selfish mode, that made me mad. Why wasn’t she working with me to help my child?
This happened early on, after he was first diagnosed with autism and it was one of the first steps our pediatrician took. She never talked to me about it in the doctor’s office. She never warned me that she was going to do it. She just let a stranger leave those words on my answering machine.
I had just come to grips with the diagnosis. I was struggling to find a speech therapist – the one thing she had mentioned to me – when I got this message. I was scared. I felt like I was climbing Mount Everest and she was asking if I could give her our ice pick, rope, and a map back down at home base for some other folks that had to do the climb. How could she do this without explaining what it was for? And so, I called the pediatrician – not the lab.
I got the standard recorded warning that “if this is a life-threatening emergency, hang up and dial 9-1-1.” I was to push “3” for pediatrics and listen to disco music on a very deformed speaker set to maximum distortion volume. Then, after five minutes or so, I got excited thinking I’m getting a live person because the “music” stops and I hear a click. Sadly, I get the standard recording, “We’re sorry. Your call is important to us. Please continue to hold. We are experiencing a high call volume.”
When, five to ten minutes later, I finally get a live person, it is not anyone who could help me. Of course. The layers of Secret Service protection that surround my pediatrician’s very existence would not actually let me speak to her. I get the “phone answerer”. This person then asked me for my name, rank and serial number, and my son’s name, rank and serial number. Then, she asks me if I am “Karen”. They always do this. They ask who I am. I tell them. They supposedly type it in. They bring up my son’s information, read it to me and then ask me who I am again. Nothing like that to make you all warm and fuzzy inside.
I tell them what has happened. My son is yelling and laughing and pushing buttons on “max” volume for his toys while I do so. They mutter about leaving a message for our pediatrician and that she will call me back. Whatever. I don’t have time for “genetic testing” as I’m quite sure it will tell me nothing.
For weeks, the lab calls again and again, leaving more and more messages, each angrier than the last because I don’t call back. And, for my part, I get more and more mad that no one will tell me why I should do this. Really? Do you need to bill for that so badly?! I ignore the calls and wonder when our pediatrician will call me. She never called us back. I finally tell the lab person that the pediatrician never explained to me how genetic testing will help my son, or if it would, and I would not be coming in for this testing unless someone told me what it was for. She understood and told me to call if I wanted the test.
A year passes. We see the pediatric neurologist. He tells me that he wants to make a referral for genetic testing (along with many other tests including our EEG). This time he explains that there are treatments based on certain outcomes of genetic testing. And finally, out of respect for my pediatric neurologist, we go. My son was tested by blood draw which was, relatively speaking, fairly easy.
So now I have the results. My son is missing at least 11 genes. The actual test results say they are of “unknown clinical significance” and that similar deletions have not been seen by the lab or in the online genetic database. When I spoke with a nurse practitioner about it, she said it will not change my son’s treatment.
I know other people who have had the genetic testing and the results made a difference in treatment and responsiveness of their child. Not so in this household. So, my gut was right from the beginning. Genetic testing was not useful for us. I’m not saying it can’t be for anyone else, but much is still unknown in the field of genetics and genetic testing, in particular, related to autism. If you go in knowing that it is doubtful that it will help, this kind of news may not bother you much.
It’s just another example of how little is known about what causes autism. The “experts” tell us that they have no idea what this genetic deletion means or even if it means anything at all. Another struggle to try and find answers. Another dead end. The score remains the same. Autism 1 – My family – O.
But this is much bigger than any game, and it’s not over until we win.