Normal is Relative

I was just pondering recently about how in some situations, a certain condition could be viewed as genetic, whereas in others it's environmental - but it's still the same condition. An example is AIDS. AIDS is a viral condition, right? It's caused by HIV - human immunodeficiency virus.
But if there were chimpanzee doctors, they'd call it a genetic condition. Some people, and most chimpanzees, are genetically immune to AIDS. They can be HIV or SIV (simian immunodeficiency virus) positive, but they will not get the immune problems that characterize AIDS. Almost all chimpanzees have SIV, and almost all are immune to it. So in order for a chimpanzee to get AIDS, they have to have the genetic susceptibility to it.
Phenylketonuria (PKU) is another example. PKU is a condition in which a person can't metabolize phenylalanine. If they have a low phenylalanine diet they are (mostly*) normal. With a high phenylalanine diet, they are developmentally delayed, with behavioral differences including autism and hyperactivity, and have a pale complexion and a distinctive smell.
In our society, where most people can metabolize phenylalanine and eat a high phenylalanine diet, (untreated) PKU is a genetic condition. However, if there was a society where most people had the genetic inability to metabolize phenylalanine as well as a low phenylalanine diet, then it would be considered a dietary problem.
Incidentally, that's the case with scurvy. Many species, such as rats**, can create their own Vitamin C, but humans (as well as guinea pigs) can't make our own Vitamin C. Therefore, our only source of Vitamin C is our diet, and most people eat a diet with enough fresh fruit and such that we don't get Vitamin C deficiency (scurvy). If a person gets scurvy, it's because of their diet. But a rat who has Vitamin C deficiency would probably have some kind of genetic abnormality that means they can't make their own Vitamin C.
Basically, in terms of the factors that cause a condition, doctors look for what's different. What is different about this person, that xe is having repeated pneumocystis pneumonia? HIV. What is different about this kid who's developmentally delayed and has an odd smell?They have two mutated alleles in a certain gene. Those are considered the cause, not genetic susceptibility to AIDS or a high phenylalanine diet, because that's what is different.

Ettina

* However, see Inhibitory Control in Children With Phenylketonuria, State Regulation and Response Inhibition in children with ADHD and children with early- and continuously treated phenylketonuria and School Performance in Early and Continuously Treated Phenylketonuria.
** When I told my Dad this, he asked if sailors wouldn't get scurvy if they'd eaten raw rats (cooking destroys Vitamin C). I'm not sure if that would work, but it's really funny to imagine.
[Edit: Actually, there is not enough vitamin C in rats. You would need to eat an immense amount of rats to get enough vitamin C, and it's unlikely a person could eat that many rats. I suppose if you had some way of removing most of the non-vitamin C containing parts, it might work, but that might be harder than simply bringing citrus fruits along.]

Opinion Shifts and Social Barriers

I read an article by the younger brother of a man, Chad, who has isodicentric chromosome 15. It's no longer available on the internet, but I have a printout. Towards the end he says that despite how wonderful Chad is and how much of that is because he's disabled, he'd never wish Chad's condition on another person.
This reminds me of my opinion on PKU. As I learnt more about untreated PKU, I realized just how valuable these people are. But still I didn't think people should feed PKU babies phenylalanine. I have since asked myself why, and now I am 'pro-choice' on the matter. I want people to be able to choose freely whether to give their PKU baby phenylalanine, instead of the automatic and societally enforced choice being 'no'.
While volunteering with autistic kids, I met a number of parents who seemed to instinctively view their child(ren) as fundamentally different and valuable in a unique way, while still saying that autistic kids should be cured and not thinking of it as destroying who their children were.
It seems to me that oftentimes, people who, through no choice of their own, ended up with a disabled family member reach some degree of acceptance (which is necessary for them to ever be happy again) but they stop at the point where fundamental assumptions would be challenged. They accept that their relative with an incurable disability is valuable and that the disability has benefits and isn't all bad, but don't challenge the idea that disabled people should be prevented.
The medical literature says that parents of disabled people have 'chronic sorrow', so that while they can reach some degree of acceptance of the disability, they are never able to completely move on because their child is a living reminder of their grief. Birthdays, seeing a normal child that reminds them of how their child might have been, all sorts of things open up the mourning again. It's like a wound that closes over but never heals.
However, I doubt the anti-cure parents of autistics, such as Kathleen Seidel, feel 'chronic sorrow' about their children being autistic. And I know for a fact that many Deaf people with Deaf children don't feel any grief at all about their children being deaf - in fact some mourn having a hearing child. It seems to me that 'chronic sorrow' only occurs if you have not completely accepted the disability, but simply found a way to live with something you still consider a bad thing. If you let go completely of your longing for a normal child, or never have that longing in the first place, you will not have chronic sorrow. Chronic sorrow occurs when you are living a situation that society's assumptions considers intolerable and you have found a way to cope while still accepting society's assumptions.
Ettina

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