Wednesday, January 16, 2008

Eloise in Moscow, Robert in Boston, no one at all in Afghanistan

All three of us, Robert, Roger, and myself, had our blood drawn today so that we can participate in a research study on genetic basal ganglia disease. Our participation would allow these researchers, based in Boston, to determine whether Robert has the disease they are studying. The condition is double-recessive, so at least it wouldn't be just the one of us (Roger or myself) who was a carrier.

Roger has, of course, decided to go all over the Internet looking for information on this, when I thought we had agreed not to do that. I still refuse to do that. I really don't want to get my hopes up about this, or get frightened out of my mind about it either. Of course, I have asked Roger to share with me what he's found out, at least a little. The disease was first isolated among a population in Saudi Arabia in which there was a lot of intermarriage among cousins. Since then, they continue to find isolated cases of it world-wide.

This particular illness, though, is responsive to the vitamin biotin. We've begun giving Robert some biotin in a very small dose (we've been giving him 4 to 5 mg a day, and the therapeutic dose is 5-10 mg/kg--in Robert's case, that would be a daily dose of 130 mg). He's been responding to it: his pupils are now the same size; his hands are unclenched most of the time, with the thumb in a neutral position; his tone is normative with some isolated incidences of high tone (as opposed to the reverse); his legs have more movement and he moves toward rolling when on the ground; and he moves his arms more readily than before. He made some consonant sounds this morning. Even the doctors at Kennedy-Krieger have not administered a biotin treatment before, so we're waiting to find out if the lab in Boston is willing to help us figure out how to administer a higher dose of biotin (increase dose slowly? one or more doses per day? how high a dose is safe given this is not yet diagnosed?).

Unfortunately, there are rules with research labs, and I don't know if they'll be prohibited from giving us treatment advice. We are, at any rate, holding our breath for the time being. I'm not sure where any of this would lead: what amount of function restored? Even some hand function restored would make a world of difference.

In other news, the conflict in Afghanistan became "real." Roger and Marty had a friend, part of Marty's larger circle of friends, whom we would run into at certain parties several years ago. He had been working in Afghanistan on some sort of democracy-related project and was killed in the Serena hotel bombing on Monday. Three Taliban assassins entered the hotel--one shot people in the lobby and was killed himself, another blew himself up and killed some people that way, and the third went into the gym/spa in search of Westerners to kill. This is where Thor was killed.

I was trying to get more details on it today, but it is though it didn't really happen, as is so much about various bombings, shootings, and other types of killings in Afghanistan--some blip of mass death pops up on the Western radar screen for a news cycle or two, and very little follow-up or information is available, even through the news organizations.

Persons from the contractor/consulting firm Thor was working with notified friends in the U.S. about what had happened--what exactly had happened. Yet the U.S. government is still claiming that it isn't even sure that one American was killed--and this is beside the point of notifying the families. Just weird stone-walling. No one can mourn our dead soldiers in Iraq or Afghanistan, and no one can know about American civilians being killed in either of those countries. Just this sense that there is some other, darker version of life going on behind some sort of political curtain that we only catch glimpses of from time to time.

It feels much like what living in the Soviet Union must have been like. We were trying to explain the Soviet Union to Edith because she was reading Eloise in Moscow, which, by the way, is filled with all sorts of jokes funny to those of us who grew up in the U.S. in the 1970s.

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