Thursday, October 25, 2007

Sanguine Thoughts

Sometimes in life, you just want to lie back and stare at the ceiling. Other times, you have no choice, which is how I found myself for a while last Sunday morning. I was lying on a simple bed, staring at the ceiling of a high school gymnasium, with tubing coming out of my right arm.

I hate needles. One of the many reasons med school was out for me is that I hate needles. I can eat breakfast while watching a pathology lecture, but I can't stand the sight of a needle going into human skin (nor a scalpel). My fear of needles was so severe I had to be partially sedated once for a blood draw, which was most unfortunate as I then couldn't scream properly when the nurse speared some nerve or another & nobody realized the agony I was in. Sticking myself as an undergraduate didn't help, though at least the needle was fresh and had not yet gone into the mouse.

So, a number of years ago I resolved to fight this irrational fear by confronting it in a positive manner, and so I started to give blood regularly. For a while I was giving pretty much as often was allowable, but in the last few years I've slipped and missed a lot of appointments. But, the Red Cross still calls & I still get in a few times a year. And the needle phobia has been calmed from abject terror to tense dread, a marked improvement. Plus, I feel like I'm doing some good -- your odds of saving someone's life are certainly better for donating than for entering a career in drug discovery (though the latter has some huge tails -- a lucky few get to make an amazing impact)

Most blood drives are held in conference rooms, and so the ceilings aren't terribly interesting. Gym ceilings don't do much for me either. There is one memorable blood drive location I've been to: the Great Hall of the Massachusetts State House. But generally, it's iPod and random thoughts time.

This time, the iPod was giving me the right stuff (as in the soundtrack for the same), but my thoughts were roaming. Having done this a lot, one compares the sensations to previous times. For example, the needle in had a little more burn than usual, perhaps some iodine was riding in? On the way out was even more disconcerting: a warm dripping on my arm! The needle-tubing junction had just failed, but things were rectified quickly (though I looked like an extra from M*A*S*H while I held my arm up).

But most of all, I remembered why I had come to this particular drive, with no thought of letting the appointment slip. This drive was in honor of five local children with Primary Immunodeficiency, and three of them are from a family we know well. Their bodies make insufficient immunoglobulins, leaving the patients vulnerable to various infections. Regular (sometimes as often as weekly) infusions of immunoglobulins are the treatment for this. Some causes of PI are known, but others have yet to be identified.

Given that this family has two unaffected parents and three boys all affected, my mind wanders in some obvious directions. That pattern is most likely due to the mutation lying on the X-chromosome, which sons inherit only from their mother. Given the new advances in targeted sequencing, for a modest amount of money one could go hunting for the mutation on the X -- perhaps a few thousand dollars per patient. Such costs are certainly within the realm of rather modest charity fund-raising, so will we see raffles-for-genomes in the future?

If such efforts are launched, will patients and their families be tempted to go largely on their own, bypassing conventional researchers -- and perhaps conventional ethical review boards? If anyone with a credit card can request targeted sequencing, surely there will be motivated individuals who would do so. Some, like the parent profiled in last week's Nature, will have backgrounds in genetics -- but others probably won't. Let's face it, with a little guidance or a lot of patient reading, the knowledge can be acquired by someone willing to learn the lingo.

As I was on my way out, the middle boy, who is 5, was heading outside with his mother to play. He looked up at me and said sincerely "Thank you for giving me your blood". Wow, did that feel good!

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