Wednesday, July 04, 2007

Independence Day

Q had his follow-up with Genetics yesterday. I think I love his doctor. She's sweet, funny, off the charts smart, and happy to spend time handling things as best she can. We were with her for about two hours yesterday. It was supposed to have been a short check-up, so we missed his Speech appointment.

When she asked if there was anything else I'd like to know or ask, I brought up the fact that what I've seen of Dr. Dobyns' report could use a little interpreting. Not, as she noted, for his unique brand of abbreviations. Rather, many parents have a more specific diagnosis for their child: Bi-parietal Perisylvian Polymicrogyria being among them. There are seemingly a gazillion subcategories and as of yet, no one has mentioned one in relationship to Q.

She talked about what researchers know about PMG and it's markers. Children born with smaller head size (microcephaly) tend to have a harder time, more "issues". With a head size of -3%, microcephaly is one of Q's labels. Q's PMG isn't restricted to the perisylvian region--the area between the temporal and parietal lobes. His is what would be called "diffuse" PMG because it's basically everywhere but in the anterior of his frontal lobe. Other types have more specific effects--speech, swallowing, motor planning. When looking at other children with similar markers of PMG, Q's prognosis looks rather difficult, to understate it a bit.

There was one other particular item which the geneticist mentioned, I can't remember what it was. Maybe the vermis? I don't remember what she said about that. She did mention that the opinions on the presence of the corpus callosum vary--neuro, genetics, and pediatric neuro-radiology all think it's there, in some small part at least. I believe Dr. Dobyns thought it was missing? Either way, it could be a big deal, could be nothing. By itself it would determine nothing, but in addition to all the other issues, it certainly doesn't help.

She had asked when she first came into the room how I thought Q was doing. I had said, "Very well, under the circumstances." By the end of the visit, she said she agreed--he's so far surpassing what the scans and research indicate he should be doing. Especially the sweet personality, desire to interact, ability to react to stimuli, noticing and appreciating particular people, loving stories, being thrilled to play the piano, talking to the organ at church, vocalizing appropriately...

One thing I don't know quite how to handle--we're assuming that his intelligence is much closer to normal than predicted. He's clearly curious, interested, wanting to play. He's almost eighteen months old now. Any other eighteen month-old would be all over the place, into everything, learning via experience--making messes, really. Q's motor skills, motor planning, spasticity, keep him from being able to just go after what he wants. His vision limits him too. So how do I keep this little guy entertained? How do I get him working at stuff? How do I make sure that he has the proper stimulation while also mothering his four siblings? Something to take up with OT and PT, I suppose.

His growth curves showed a small uptick. At least they're a tiny bit less flat than they have been. So. I guess I just keep doing what I'm doing? Praying. And stirring a little fat, a little DHA, a little Omega 3 into whatever I can? He's finally eating and keeping down three meals a day, plus nursing several times in between and at night.

K, the biggest of the kids, percentage-wise, just measured 95th for weight and over 100th for height, so I mentioned to the geneticist that Q's growth concerns me a bit--25th for weight and 60th for height is a little off what I would expect it to be, based on the other kids' curves. She indicated that sometimes kids with PMG have smaller stature because of the way their brain is affected. She also said that she doesn't know if his brain is affected that same way.

We talked about further genetic testing. At some point, it may be helpful for the researchers to have samples of Q's parents. There are arrays that can be done that reveal much, not just for Q but for others who haven't been born yet. I've kind of always thought that it's a sacred responsibility to volunteer oneself however one can in the way of research, education, etc. If I can make the crud we're handling into something good for someone else, a little brick in the great big building of understanding, then I feel like it's not all for nothing, you know?

We updated the family tree. Our new little boy cousin has the same 2-3 (toe) syndactyly that G has. G claims that a little webbing there makes him swim faster. No one else in the family has it, but the nice doc said it can actually be a dominant trait. Huh. Who knew?

I don't know what to make of all this. The Genetics notes are great--the last one was 6 pages long and specific. So when that arrives, I should know more. Also, Dr. Dobyns is expected to be back in touch with our geneticist before she completes her note so I hope to know more from that front as well.

So. Today we celebrate the independence of our nation. We blow stuff up, ooh and ah, and remember our beginnings. The struggles our infant country had to become a sovereign nation. We plan to celebrate by eating too much homemade ice cream, finishing with the durned linen closet, shedding some quiet tears at the patriotic music playing with the fireworks. I'll be talking to the kids about sacrifice, struggle, what it meant to the men who signed the Declaration of Independence to put their names to that document.

If you're at a loss as to how to celebrate your freedom with some sense of meaning, may I suggest that you check into the recent goings on at Amnesty International or ADRA? The Red Cross, Doctors Without Borders, your local shelters or military installation could use your appreciation for your freedom, however you choose to show it. I'm sure donations are always welcome, as are words of gratitude.

Also, on a more navel-gazing sort of level--how about thinking some on what you personally could use a little less dependence upon? I know I've been giving this some thought lately. I think we can all re-evaluate our habits from time to time and trash the ones that don't serve us so well anymore, you know? Out with the old, in with the new, happy Independence Day to you. (Yes, it's bad. I also can't spell to save my life today. Bleah.)

We are lucky people to have been born where we were. We are lucky, and blessed.

May God Bless America, and all his disenfranchised children, too.

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