I could talk about any number of profound things to round out the month, but my brain is fried. I acknowledge the benefits of annually stopping what I’m doing and spending quality time diving into the scientific literature in order to remind me of what I do know (a fair amount) and what I don’t (dear God, so, so much), it’s a bit of a butt kicker. The devil as always is in the details and in science, everything is a detail and, therefore, a devil. And when you work on things that actually afflict people, talking about the devil sometimes seems like it might not be entirely hyperbolic.
It’s easy to look past the clinical stuff when you’re focused on the things working at the molecular level, but when you back away from the bench and immerse yourself in journals in order to learn the background, what you find are case studies. Under my research umbrella sit a lot of sick people, an inordinate number of whom are kids. The sickest of them are infants who die within months of being born. They die primarily because their body’s immune system, itself young and naïve, more or less commits suicide. Another group are suddenly and relentlessly afflicted in their 40s or 50s. They lose their eyesight, then their minds, and in the middle is maybe a stroke or two. It has a 100% mortality rate within 5 – 10 years, but I’d wager that most feel that’s a long time to wait.
It’s unfair. One can argue that the folks who have lived a life prior to being struck down by their genetic anomaly are more fortunate than the newborns who never had a chance. I’d say that this is wrong. Does the newborn know what’s it’s missing? Can the newborn see its own deterioration in the mirror everyday or feel his or her mind slowly pulling away to an unknown destination? There’s no need for scales to measure how fortunate one is over another when both people are dying.
I’m not doing this stuff out of selflessness. I came to it completely by accident in a way that would likely force people to sit down and have a drink in order to process it all. What matters, all that matters, is that I’m doing it. Reading the scientific literature has gotten easier over the years. This talk I’m giving tomorrow is already so much better then previous years’ that I’m almost embarrassed that I ever gave the old ones at all. I’m starting to publish things and think in ways that are making people rub their chin and nod. Progress is the reward, not success. Success in this line of work is too vague a term. You make progress. Forward momentum.
I remember reading this and thinking first how remarkable she is and second what a blessing it is to know the difference between what’s important and what’s extra stuff sitting on life’s periphery. That knowledge seems rare and usually hard won. Huntington’s Disease, Tay-Sachs, Aicardi-Goutieres, systemic lupus, HIV. They’re all just stuff to read about until you start to understand them on a deeper level, whether that be through research or a relative who’s afflicted. Diseases like these don’t fight fair. There are no Marquess of Queensbery rules. But you fight anyhow. That’s progress.
Sir @ November 30, 2011