Gavin and I just got back (well, in the last couple weeks) from a doctor's appointment extravaganza in KC. We saw Owen's geneticist and epileptologist. As you probably know, Owen's diagnosis and condition can get very confusing if you don't live and breathe it every day like we do. Let me give you the shortened version of our doctor's visits. The geneticist and the epilepsy doctor disagree about how Owen contracted (if that's the correct word to use) Dravet's syndrome, but they are mostly in agreement about the fact that Owen probably has Dravet's syndrome. In other words, the geneticist doesn't believe that the mutation of the SCN1A gene that Gavin passed down to Owen is causing the Dravet's....he could have contracted it another way--a way we haven't discovered yet. She gave us the "well, if three doctors are telling you that is what it is, then I would probably listen to them" answer. Ugh. So frustrating. On the other hand, the epilepsy doctor thinks this is too much of a coincidence that Owen has this mutation and also shows characteristics of Dravet's. The mutation and the syndrome almost always go hand-in-hand. Whatever. It's just absolute confusion to us. We may never have a concrete, FOR SURE diagnosis, but this is as close as we are going to get for now. As far as what to do next...I am checking into a medication that is widely popular for kids with Dravet's. However, it is not FDA approved in the US yet, therefore, it has to be purchased in Canada and won't be covered by insurance (way expensive). We are at that point though where we will go to any lengths to try anything! The VNS chip is also in Owen's near future. It will be a one-day in and out surgery implanting a chip in Owen's chest cavity to hopefully help decrease the seizures. I'll keep you posted, obviously.
On a lighter note, I have a wonderfully funny story to tell about Owen. I was feeding him the other day, and the Braum's commercial with it's addicting little jingle came on the TV...."From our farm, to your store, only Braum's gives you more....only Braum's gives you so much more...." Yeah, that one. I got pretty close to his face, and started singing it. LOVED IT. Smiled from ear to ear, cute dimples and all, and even laughed with....or at....me. It didn't stop after just one time, oh no. I sang that song to him off and on for the next few hours, and he continued to think it was amazingly funny. Of course, the second I got the recorder on my camera ready, all he did was stare at the camera with a scowl on his face. These moments of meaningful smiling and laughing are what keeps us trucking along. Even if it is smiling and laughing to that stupid Braum's song...I can't get that song out of my head now.
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