Diagnosis Schmiagnosis

Gavin and I are thoroughly confused. Denver doctor says, "I think Owen has Dravet's Syndrome." Baltimore doctor says, "I think Owen has Dravet's Syndrome." Kansas City doctor says, "Well, I do think Owen's issues are caused by the SCN1A gene mutation. But. There is a wide spectrum of syndromes that fall under this gene mutation. I don't think he is as bad off as Dravet's, but he is not on the mild end either. So I think he falls somewhere in between." Hmmm. Soooo....what exactly do you call that "in between" syndrome anyways? We have been telling everyone that Owen has Dravet's Syndrome because 2 out of the 3 doctors seemed pretty sure that's what it is. Now, I guess, we just need to wait to see what the geneticist thinks; she will be our tiebreaker and final answer, I hope. AND....after WEEKS of trying to get Owen in to see his geneticist, and after multiple failed attempts over the phone, he finally has an appointment June 13th!!! (The great news about that date? We'll already be in KC that weekend for my friend Jamie's wedding! Yay extended weekend!) Stay tuned to hopefully get a more "official" diagnosis for our boy!

Dr. Abdelmoity (Owen's epileptologist/neurologist) also told us about a study he and some other colleagues of his are doing soon. It is in the approval stages, but it will be approved (so he says) and he wants Owen to be a part of it. He is taking a handful of his patients and researching their entire genomes...or what humans know to be the entire genome anyways. I have mixed feelings about this. On one hand, it has to involve a LOT of blood work, and we all know Owen doesn't need anymore of  that. I'm also anticipating a lot of road trips to KC for this, which won't happen I can tell you that right now. On the other hand, what if he finds something we've been looking for all this time? What if this will lead us to THE exact diagnosis? Or more importantly, a better way to medically treat him? I don't know; we'll see what happens I guess. For now, we're just weighing the pros and cons until he talks with us in depth about the study in the next couple of months.