Another update

Today Q had his appointment with the geneticist. What a nice bunch of people they have there.

Oodles of forms, hours of family history, questions and answers, and in the end, the working diagnosis is lissencephaly--as originally explained by the neurologist in May. However, the geneticist suspects that Q is having polymicrogyria. In order to figure it out, she's sending his MRI off to her friend, the "world expert" (as she put it) in this. I think he's a neuro-radiologist and his opinion is so much in demand that it will be a few months before we hear back from him. But that's okay, because the bloodwork will take about that long to come back. Meanwhile, if anything should move along more quickly than expected, I will hear from them right away.

(I am feeling that same sensation of being grabbed by the nape of the neck for battering-ram duty. I do not like it. I had nearly forgotten how it felt.)

The geneticist also noted that she thinks it important that the neuro-radiologist address the issue of Q perhaps having had some white and gray matter reversed--each having ended up where the other was supposed to have been. This, apparently, is what indicated to the nice neuro guy the vastly increased likelihood of Q developing seizures. Therefore, the rhythmic, repetitive motions which he sometimes has should be watched closely. If anything changes, Q should be seen and perhaps (probably) have another EEG. Also, the geneticist agrees with the PT that it would be a good thing to pursue a swallow study to see what exactly Q can handle orally, especially since he does seem to be having reflux, which goes right along with the profile of these condition(s).

After the poking and bloodwork of the day, I can only imagine that a swallow study involves irritating his gag reflex beyond what he can stand. . .

Of course, I feel a flickering peripheral suggestion of vomitous rage at all of this. Same old, same old. Someone's free will squandered vs. giving up anything I have, indeed, my life to fix this for Q. It makes me want to knock certain people to the ground, frankly. Repeatedly. Perhaps perpetually, until they can give some indication that they get it.

So. Thanks for the prayers. They're keeping us afloat. Q's third cold in as many weeks is getting better and I'll head off to bed to grab a little rest before he gets up all snuffly again. His next appointment is next week with urology--to address his communicating hydroceles.

Anyone find my big ol' box of boring yet? How about that magic wand?

'night. Give your beloveds extra hugs and kisses from me.