You Are NOT Smarter Than a Fifth Grader
I hate to break it to you, but you are not smarter than a fifth grader. In all fairness, we have the board game and I’m not smarter either.
Aidan and I had a genetics appointment a few weeks ago and science has changed since I’ve been in school, heck, it’s changed since Aidan’s was born. I love my geneticist. I get a little science lesson every time I see her.
The Human Genome Project is a game changer. That cool tinker toys project you did in school to map out your DNA is so five seconds ago. Scientist are constantly learning more about our DNA, and more information leads to more questions and huge ethical implications.
So, Aidan had a major genetics work up when he was born. They tested for many progressive diseases, or these are scary and you will continue to get worse diseases, that have tests. Time has been enough of a test to show that Aidan doesn’t have a progressive disease. In the early years, I was desperate for a diagnosis. Now, I’ve settled into this life and the worst (seizures) has already come (I think). Unless a diagnosis (what the hell is up with him) would change his prognosis (treatment and likely course of a disease) than I’m ok for now without one.
That being said, every year there is a new test for something. If it’s just a blood test we do it. The only thing we’ve discovered so far, and this shouldn’t be a surprise to anyone, is that I have a little something extra special in me (ok, the truth is we all probably have a little space debris floating around in our genes but who ever cleans in there anyway?).
At this appointment we discussed Exome Sequencing, or the 1% of the DNA that is thought to be responsible for 85% of genetic mutations. It’s not covered by insurance and is quite costly because it’s an in-depth look that reaps lots of information. Read Dana’s explanation to better understand the process and read her story about testing Maya. All the tests Dana mentions regarding Maya, Aidan has had as well.
We’re not running this specific test at this point but we discussed some interesting questions. There is apparently an 11 page release form for this test. Garreth and I would be tested as well to compare our DNA to Aidan’s. This test gathers lots of information and we’d have to decide specifically what results we want to know. Would I want to know right now if I’m at risk for breast cancer or if Garreth could get early onset Alzheimers or if there is something even scarier than seizures awaiting Aidan? Our genetics offer no guarantee about our future so what information would we deem beneficial? In one moment it was such an interesting philosophical question and in the next it was too much of an exhausting weighty decision to consider.
Aidan will be having some other genetic testing done because I walked in with a list. Here is the beauty of the blogging community, the power in sharing our stories; on Dana’s FaceBook page people had posted different genetic testing they’d done on their undiagnosed children. I brought the information to my geneticist and she felt some of the test were perfectly appropriate and some she hadn’t yet thought of for him.
I know longer wait with baited breath. It takes 4-6 months to get some of these results and we’ve been down this road so many times. Could they show some results? Sure. Will they change my life and how we treat Aidan? Possibly. But for now, we just deal with the reality of what’s in front of us and do our very best for Aidan.