Wondrous anomalies

PINOY KASI


Wondrous anomalies
By Michael Tan
Inquirer

Last updated 01:52am (Mla time) 02/09/2007

MANILA, Philippines -- Several times each day, he comes out of the house and paces the street up and down, up and down, a slight smile on his face and looking like a Spanish friar with his daily prayers.

I’ll call him Gil, although I wonder if I really need to protect his identity. When my parents first moved into the neighborhood in the late 1970s, he was already around, a young child who clearly had his own world. Back then, people weren’t as open about autism and everyone kept a polite silence about him. He was there, yet not quite there.

Then a few years ago, we got an invitation to attend Gil’s first art exhibit. They were fine paintings and we bought one, showing Roman aqueducts, which, his sister explained, Gil had seen once in a photograph.

That was the first time we talked about Gil, but never did the word “autism” come around.

Last month, the Inquirer devoted several front-page articles to autism, excellent contributions toward helping the public understand this intriguing condition or, rather, spectrum of conditions.

With so much already written about autism, I wanted to draw the readers’ attention to a larger picture of children and adults living with one of many possible genetic “anomalies.” I use quotation marks here because I feel uncomfortable with the term, but I prefer it to “disorders” or even “diseases.”

Malformations

There are entire books devoted to these conditions. One textbook, “Smith’s Recognizable Patterns of Human Malformation,” has gone through six editions and, as the title suggests, focuses on the conditions with visible manifestations. It’s all in there, from cleft palates to the “happy puppet syndrome,” so called because those having it have a “puppet-like” gait and break out in paroxysms of laughter. There’s a whole chapter on osteochondrodysplasias, conditions affecting the bones and joints which translate into what lay people call, generically, “dwarfs.”

It’s a difficult book to go through, with photographs to illustrate the different syndromes. Many are named after the medical scientists who first discovered the conditions, or who devoted their lives to researching the anomaly. For example, there’s Down’s syndrome (the old term was “Mongoloidism,” now considered politically incorrect) and Hutchinson-Gilford syndrome (also known as progeria, involving premature aging).

The “anomalies” include the sexes, reminding us that even at the biological level, there’s more to the sexes than females with XX chromosomes and males with XY chromosomes. Rather, there are all kinds of intersex categories with chromosomal anomalies like XXY, XXXY, XXXXY, XXXX, XXXXX, usually resulting in underdeveloped or ambiguous reproductive organs together with other physical malformations.

Many of the congenital anomalies seem rare -- one in several thousand births, for example -- but when you think of the total population in a country, the numbers end up quite high. In the Philippines, for example, if we have about 0.5 percent of the population belonging to intersex categories, that means more than 400,000 people.

‘Diperensiya’

I’ve written in the past about how the Spanish “diferencia,” which means difference, became “diperensiya” in Filipino, to mean a defect. We’re uneasy about people who don’t quite fit into the majority in terms of behavior -- or appearance. We see this in the way people are given nicknames referring to their “diperensiya,” from Pandak (stunted) and Duling (cross-eyed) to Negro and Tisoy or Tisay for the skin color.

If such superficial differences merit a taunting nickname, imagine the stigma that comes with more dramatic, genetically based “diperensiya.” Without access to medical information, it’s not surprising that people have developed all kinds of folk explanations for these conditions, including attributions to “paglilihi,” a pregnant woman fixated with particular foods, objects, or people, whose appearance is then said to be transferred to the fetus.

We fear the unknown, so children with congenital anomalies sometimes end up neglected, even maltreated, gawked at, or displayed in circuses.

On the other hand, we do see more positive responses, where the child is seen as a “blessing,” even as someone who brings good luck. The term “special child,” brought in from the West, was easily picked up in the way it converged with the notion of a “blessing.”

James Paget, a brilliant English surgeon and pathologist, wrote in 1882 about the genetic anomalies: “Not one of them is without meaning; not one that might not become the beginning of excellent knowledge, if only we could answer the question: Why is it rare? Or being rare, why did it in this instance happen?”

From a detached scientific perspective, these “anomalies” are random events that happen every day, all over the world, in all species of life. There have been many advances as we try to decipher the reasons such anomalies occur. Autism, for example, is now seen as a “spectrum disorder” that includes many “high-functioning” people who might even be teaching in universities and writing books.

Some conditions are now easily remedied, such as the cleft palate. I am amazed at how a fairly simple operation can bring such a dramatic change in a person’s life, yet, extreme poverty still prevents so many Filipinos from benefiting from the harelip operations.

Most importantly, people with “anomalies” find ways to help themselves. There are now associations of intersex people, of people with autism. The “little people” or dwarfs, formerly the object of ridicule, have carved out of their own niche (I think of Hobbitt House on Mabini Street, now completely managed by a group of little people).

With time, we will begin to look at “anomalies” as a statistical term, referring to events that don’t occur too often but which are still part of the variation to be expected in nature. And the people -- they wouldn’t be thought of as anomalies. Already, we marvel when we’re allowed to peek into the worlds of the autistic. Sometimes the experience makes us wonder if perhaps we are the ones who are handicapped, not being able to see as they do. Paradoxically then, the anomalies become mirrors to humanity, allowing us to see more of us.

Out in nature, life is often short for those born with anomalies. Only humans have found ways to allow the “anomalies,” including those whose conditions pose serious handicaps to become part of the family, of society, even living to a ripe old age, cared for and loved. Our wondrous anomalies are a mirror to humanity, and the way we care for them defines that humanity.