We took Grace to Iowa City this fall to meet with the genetics group there. We last had her blood tested for any genetic explanation of her diagnosis when she was two. When she was two what I basically remember that they told us was that everything came back fine. There was no other explanation than to say the whole thing was a fluke. There was nothing about her genes to help us understand her. They also said that since it was all a fluke the chances of any other children we would have experiencing the same thing were probably very slim.
At her initial diagnosis the doctor told me, before he went on to tell us all that was wrong with her, that I should have miscarried her. It felt like an accusation at the time, like my body had done something wrong. When in all actuality maybe what my body did in holding onto her was something really incredible.
The results of the most recent test came in last week. Kevin was still at work, I was home trying to make supper and watch our kids. We ended up on a three-way conference call. The notes I took are still sitting on my kitchen counter. (I’m not sure where the Santa weeble came from).
So, Grace has just had the best genetic testing available – it looks at all of the 2% of our genes that science can explain right now. And you know what they found? Nothing. Absolutely nothing. Grace came back normal. No findings.
They did however say that they are considering a diagnosis for her that we thought had been eliminated a long time ago, that they just couldn’t validate with science. We were left wrestling with what the right diagnosis for Grace is. We’ve decided to go with the epileptologist’s diagnosis, as he’s known her far longer and much better than the genetic doctor we saw for one afternoon. But we had the results sent to all the requisite doctors and we’ll ask everyone what they think as we make our Minnesota spring rounds of doctor appointments.
I’m ok with Grace being unexplainable. I think its part of her charm. It prevents putting her in any kind of box. She is just who she is, no explanation necessary.