Wednesday, August 02, 2006

Losing Diversity

I've finally decided what my opinion is about dietary treatment for phenylketonuria(PKU).
Phenylketonuria is a recessive genetic condition in which a person lacks the enzyme for digesting phenylaqlanine, a substance present in many foods. If they don't eat much phenylalanine, this condition has no effect, but if they eat phenylalanine during infancy and early childhood, it affects their brain development. Phenylketonurics fed a normal diet until adulthood are moderately-profoundly developmentally delayed and have distinctive behavioral traits including autistic traits. Since babies are screened at birth for PKU and given a low phenylalanine diet, In some regions the youngest people with untreated PKU are in their 40s.
I used to have an obsession with endangered languages. I came across one language, the name of which I can't remember, which used to be spoken by this one group of Australian native people. The last native speaker of this language died sometime before I was born, maybe in the 1960s? All that is left of that language are tapes of that man telling two traditional stories in his language. I wanted to learn that language, but after awhile realized that there wasn't enough known about it for anyone to become fluent in it ever again. That knowledge was gone, and with it, a central part of that culture.
Most people assume that there isw no value in having people who are severely delayed and autistic. I disagree. And each developmental disability brings a unique experience of the world. People with untreated PKU see the world in a unique way, just like people who know a certain culture see the world a certain way. I think of untreated PKU as similar to a moribund language - one which is not being passed down the generations anymore, and will soon be dead. Of course it will not be lost forever. The genes for PKU are still around. But soon no one will have that kind of mind, at least in certain regions. And that makes me sad.
I think about studies I'd like to do in how people with untreated PKU think and feel this sense of urgency, because if I wait too long, they'll be gone. I want to understand those people. I don't want them to just fade into history, the only thing remembered about them being how 'defective' they were.
Now, I'm not saying that no one should give a PKU baby a low phenylalanine diet. What I'd like to see is people making that choice without viewing untreated PKU as a horrible thing, but instead as another way of being. Right now, it probably isn't really a choice. If I had a PKU child and didn't treat them, how long do you think that child would stay in my custody? After all, people have even lost custody of ADHD kids because of not giving them Ritalin.
Ettina

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