Wednesday, September 06, 2006

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.

5 comments:

Karen said...

Carrie,
You continue to amaze me with your strength and grace. You are in my prayers {{dear one}}

Karenciavo

2lilreds said...

Carrie, you know more "big words" than any momma should ever have to hear. I hope at the end of all this you have a workable plan for little Q.

I will be praying for you still, dear one. Blessings to you and your sweet babies. Also, I would be happy to join you in the bludgeoning of (specific) idiots.

Kay in Cal said...

Carrie... as always praying and praying for you here. As soon as I locate a magic wand, I'll send it to you overnight mail!

I also volunteer for bludgeoning duty. Doug has offered to help as well.

Old Dominion Heather said...

Yes, let's all go bludgeoning... Josh and I will even fly to the west coast to participate!

We are prying for the little guy, and family.

Yevrah said...

Me too....I've had dreams of giving this particular person a piece of my mind and a piece of my foot.

Hang in there Carrie (like you have a choice I know), but there will be justice some day. Some freakin' day.

BTW, I linked to your blog on my own...hope that's ok.