Autism

The autistic community has been getting more active trying to dispel stereotypes about autism. For instance here is a new public service announcement put out by a group called No Myths:

http://www.nomyths.org/60windows.html

Also recommended is http://www.autisticadvocacy.org/.

Body Identity Disorder

While traveling to Disney World the other week, I picked up a copy of Scientific American Mind to keep myself from being too bored on the flight. One by Sabine Miller called "Amputee Envy" concerns what she terms "Body Identity Disorder" (BID). People with this extremely rare disorder desire to have one or more of their appendages removed, and some actually have such discomfort that they request that the appendage be removed. A summary of the article is here.

A clarification: "Body Identity Disorder" is a term proposed by Dr. Michael First. See this link:
http://biid-info.org/First%2C_Michael

I had heard about this sort of thing and chalked it up to being a sexual fetish. The reality appears to be much more complex. Some appear to be seeking attention rather than any sort of sexual gratification. But most interesting to me is that at about two thirds of the disorder report that amputation will enable them to express their "true" identity. Thus, there may be a parallel between this disorder and Gender Identity Disorder (GID), which is of personal interest to me. Indeed there are some interesting parallels-both disorders arise early in life, and sometimes the discomfort (which can be extreme) is only resolved through surgery.

One might think that these sorts of identity statements are merely part of our modern cultures preoccupation with identity or authenticity, but some cases of BID appear to arise from irregularities in how the body is mapped out in the cerebral cortex. Indeed, sometimes temporary cases of body image problems result from brain tumor, injury or disease. When the disease or injury is fixed, the body image problem goes away.

The article also address the issue of surgery for BID cases. Some ethicists argue that, as in the case of certain types of GID, if the person is fully informed of the risks and is not psychotic then surgery ethical. Other ethicists consider this wrong headed and that the Doctor must protect the patient from his or her "irrational desires."

Again this sort of debate parallels that about Gender Identity Disorder. Since Gender Identity Disorder is much more common, there is actually standard of care called the Benjamin Standard of Care to provide a way to select those most likely to benefit from sexual reassignment surgery. So lots of interesting things in this article to chew on. What makes our identity? Is it merely socially constructed as some would have us believe? How much is changeable about our identity? What are the boundaries of ethically acceptable medical intervention?

There are lots of other interesting articles in this magazine...so you might look for it at your newsstand or for purchase online at www.SciAmMind.com.

Citation: Sabine Miller(Dec 2007/Jan 2008) Amputee Envy Scientific American Mind 18(6) pp 60-65

Other links:

BIID-Info.org

World Professional Association for Transgender Health

Sex in humans: It's a delicate balance.

For years we have been taught that during human development the default sex was female and an individual with a copy of the SRY gene would develop into a male. There is an interesting interview with Eric Vilain from the University of California in this month's Scientific American. Dr. Vilain's work has updated this simplistic notion and his work has implications that go beyond genetics.

Dr. Vilain studies intersex individuals. He got interested in this topic as a medical student in Paris. He was assigned to the pediatrics unit and was shocked at how doctors made decisions about gender assignment for children with ambiguous genitalia.

His lab has discovered that sex and perhaps gender seem to involve a balancing act between different sets of genes. On the one hand is the SRY gene. Balancing that appear to be a series of what he calls "anti male genes", for instance the WNT4 gene that he calls female specific. Indeed this gene appears to inhibit male hormone production by females. WNT4 and other sorts of genes may also prove to be not just "anti-male" but be required for proper ovarian development, but this still needs to be demonstrated.

Vilain's work has implications for the politics and handling of gender related issues. From the transgender perspective this work is interesting because it provides an approach that might help explain gender identity 'disorders' at least in some situations. After all the SRY gene appears to be expressed in the brain. Might the same hold true for some of these other genes related to gonadal development? Might gender identity and behavior be as much about genetics as about social construction?

Indeed in another interview Dr. Vilain has this to say about gender identity:

"This is really the big enigma and to me it's also the most important aspect of
sex determination to understand because I believe out of all the definitions of
sex, gender is the most important. In fact it's how people feel that is
important, regardless of what they look like, of what their levels of hormones
are, or what their face or genitalia look like. It's what they feel within
themselves."

For the intersex community, his work has led to proposals to replace much of the nomenclature related to intersex individuals. In Vilain's view, the term 'intersex' is too vague and he would replace it with the term 'disorders of sexual development (DSD)'. Some in the intersex community support these sorts of changes because it would enable them to get medical treatment. Others think that the new nomeclature pathologizes what they view as 'normal variants.' Vilain responds:

"We can play with words like that, but for practical purposes these "normal
variants" have a lot of health risks that require lots of visits to the doctor
for a bunch of issues that intersex patients have: fertility issues, cancer
issues (the testis inside the body can increase the risk of cancer), sexual
health issues. So if you're to start going to the doctor a lot for your
condition, you can call it a normal variant, but that's not really useful.
You're calling it a normal variant for political purposes."

Yet the intersex community is not abandoning the term intersex, but using it in the sense of an idenity rahter than a set of medical conditions. Sherri Morris makes this point quite clear in the ISNA blog:

"It would be a mistake to advocate that “intersex” be replaced with “DSD” within
such community, in the same way that people with a variety of different
conditions identify themselves using terms which may vary from the terms
employed by their health care providers. For example, instead of using a
diagnosis such as “achondroplasia,” many individuals with such conditions have
banded together using the term “Little People” because it reflects their
history, culture, and real-life experience."

So we see how genetics research affects more than just medical knowledge; it affects how we view ourselves at some very fundamental levels. For the subtle conflict and balance among the genes in the human organism is reflected in the complex nuances involved in even the most basic aspects of our identity, laying waste to the simplistic notions of male and female clung to by so many in our society.

Other Links:

Brian K. Jordan, Jennifer H.-C. Shen,Robert Olaso, Holly A. Ingraham, and Eric Vilain Proc Natl Acad Sci U S A. 2003 September 16; 100(19): 10866–10871.

Intersex Society of North America

Technorati Tags:
genetics
gender identity
intersex