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Book Excerpt: What is Normal?

Difference or defect? Diversity or pathology? Journalist and father Dan Kennedy asks, "What is normal?" and discusses the importance of distinguishing between genetic differences and genetic defects.

What is normal? More specifically, what is a genetic difference and what is a genetic defect — and how do you distinguish between the two? Does it matter? In a word, yes. In language and in the real-life attitudes that language reflects, differences are good, defects are bad; differences are to be nurtured, defects eliminated. To eliminate a defect that causes real suffering is obviously an unalloyed good. But if one person's defect is another person's difference, then the moral calculation changes considerably. And if the defect/difference can't be eliminated without also eliminating the person, well, that's another order of magnitude altogether.

Little People book cover

Excerpted from Little People: Learning to See the World Through My Daughter's Eyes by Dan Kennedy (Rodale Books, October 2003).

Some of these judgments are easy to make. Consider eye color. Brown is dominant and blue is recessive, meaning there are more people with brown eyes than blue. I'm oversimplifying, and I'm not even mentioning those whose eyes are green or gray or utterly unique, but indulge me. If brown eyes are the default mode for the human race, are people with blue eyes somehow defective? Of course not. Blue eyes work exactly the same as brown ones. Mine happen to be blue. Of far more significance, though, are the facts that I've had to wear glasses since I was nine, that middle age forces me to switch back and forth between two pairs when I'm reading, and that an allergy often makes my eyes dry and itchy and uncomfortable. Eye color? Who cares?

Mark Trombino playing baseball in the early 1980s.

Mark Trombino playing baseball in the early 1980s.

Or take race. Through some combination of genetic attributes, people of European, African, and Asian ancestry all look quite different — from the pigmentation of their skin to the shapes of their noses and eyes to the color and texture of their hair. But despite the efforts of some to pretend otherwise, we know that racial differences are morally and intellectually neutral, meaningless — and of little importance when compared to other aspects of our genetic make-up. Scientists say that the genetic differences between Europeans and Africans, for instance, are less pronounced than the differences among various African ethnic groups. Obviously the differences that are the most visible are not necessarily those that are the most profound, or that help determine who an individual is.

Mark Trombino with his mother and two sisters.

Mark Trombino with his mother and two sisters. Mark was born with SEDc, which was the result of a random mutation in his DNA.

Now turn the needle over to the other end of the dial. Down syndrome, quite clearly, is a genetic defect — a condition created by an extra chromosome that causes mental retardation and myriad other problems, such as heart abnormalities, hearing deficiencies, and short stature. (Some reference books actually refer to Down's as a type of dwarfism. That's not necessarily wrong, but it seems beside the point.) People with Down's often enjoy good, meaningful lives, especially when brought up in a loving home environment rather than the institutions they were typically warehoused in several generations ago. Still, no reasonable person would call Down syndrome a mere genetic difference on the order of eye color or ethnicity.

The same is true of genetic defects that do not manifest themselves until adulthood, such as those responsible for Huntington's chorea (the disease that killed Woody Guthrie), amyotrophic lateral sclerosis (ALS) (affecting Lou Gehrig, the physicist Stephen Hawking, and Morrie Schwartz, of Tuesdays with Morrie renown), and certain types of breast cancer. No one would call these mere genetic differences. And even though you could construct an argument that Gehrig, Schwartz, and Hawking have had a more significant and lasting legacy than they would if they'd never gotten ALS, it is nevertheless true that their genetic defect had an enormous, and damaging, effect on their lives.

Alisha underwent leg straightening surgery at the age of 11 to correct her bowed legs.

Alisha underwent leg straightening surgery at the age of 11 to correct her bowed legs.

Finally, turn the needle back to the middle. This is the part of the dial occupied by dwarfism. Difference or defect? Diversity or pathology? It is a politically charged debate with consequences not just for the dwarf population, but — in an age of prenatal testing and the promise (and threat) of genetic engineering, at a time when our increasing acceptance of difference is matched only by our growing ability to eradicate it — for all of us.

Nowhere does this debate rage louder than within the dwarf community itself. On the Dwarfism List, an Internet forum with nearly eighteen hundred subscribers, that I had a hand in founding and continue to help run, there is little agreement on the difference/defect divide. Some frankly define dwarfism as a genetic defect. Others are quick to respond, "God doesn't make mistakes." This is supposedly the show-stopper for the religious-minded, though it conveniently circumvents the matter of whether, say, infants born without brains are evidence that God occasionally takes a day off.

The whole reason for the debate, I suspect, is that although dwarfism is a disability (in itself a controversial assertion in some circles), it's a different kind of disability. In contrast to a person who is blind, or deaf, or uses a wheelchair to get around, a person with dwarfism — in most instances, anyway — is fully in possession of all of her physical abilities. A dwarf looks not so much like a person with a disability as she does a member of a different race, or even a different type of human. As the medical anthropologist Joan Ablon writes:

Within the context of populations labeled as physically different, the situation of the dwarf is made more complex and ambiguous for the average-sized perceiver than is that of a person with a missing limb or an impaired sensory organ, since in the case of many dwarfs, there is nothing really "wrong" or dysfunctional about any one part of them. The person is just smaller, or in the case of disproportionate dwarfs, the body is in a different form, but it is all there, and all part of a piece, with each part fitting into a harmonic, although different, whole.

Thus, according to Ablon, dwarfism is a disability, but it's a socially constructed disability. People with dwarfism are disabled not by the lack of some physical function, but by a culture that perceives there is something wrong with them — "something wrong, but not too wrong," Ablon writes — and that discriminates against them by denying them opportunities that it routinely grants to the average-sized majority. Such discrimination can take the form of refusing to alter the human-made environment — lowering door handles, elevator buttons, toilet seats — in order to accommodate dwarfs' short stature. Or it can be more explicit: refusing them a job or admission to a school, or staring and pointing and laughing at them in public places.

The world doesn't have to be inaccessible. Learn about the Seven Principles of Universal Design on POV's Freedom Machines website.

But wait. Most disabilities, not just dwarfism, are socially constructed to a greater or lesser degree. It seems intuitively correct to say that a dwarf is not disabled in the same way that a blind person is disabled, but is that really true? For instance, if an ATM is so high that a little person can't reach it, how is that any different from a blind person's being unable to see it? If a deaf person attends a lecture and cannot hear, then he is disabled; but if there is a sign-language interpreter standing next to the speaker, then his disability disappears — or becomes meaningless, which is more or less the same thing. For some years now, a segment of the deaf community has denied that deafness is a disability of any kind. Activists have sought to elevate American Sign Language to the level of, say, English or French, and have denounced cochlear implants — surgically inserted devices that restore hearing in certain types of deafness — as the cultural equivalent of genocide. Personally, I think a middle position is appropriate. Deafness, like blindness or paralysis is a real, physical limitation. But thinking about it primarily within its social context — a context that the hearing majority has the power to change — helps us create a better, more inclusive world.

Dwarfs, too, have real physical limitations. They aren't just short. They aren't just disproportionate. They don't just walk differently. They are disabled, in objective fact as well as cultural theory. The most dramatic example is that the opening inside a dwarf's spinal column is barely big enough to accommodate the spinal cord. In some cases — particularly with advancing age, but sometimes in young children — "barely big enough" gives way to "too small," and the only way of preventing paralysis or even death is to saw the spinal column open and remove chunks of vertebrae. Dwarf adults sometimes suffer through years of tingling and weakness and pain, trying to put off surgery as long as possible; it certainly isn't the sort of thing anyone would want to go through twice, though some do. And there's more, much more. Dwarfs can't extend their arms fully at the elbow. Children tend to get bowed legs, which can make walking difficult and painful, and which has to be corrected by surgery. Some dwarfs, especially kids, have hydrocephalus, "water on the brain." In most cases it's mild enough to warrant nothing more than monitoring and measuring. But in a few rare instances, the condition is severe enough that a shunt has to be surgically inserted, draining excess fluid from the skull cavity to the abdomen. And — as we were about to learn with Becky — sometimes, again mainly with kids, the airways are so small that they can get easily overwhelmed by a common respiratory virus, turning what should be no more than a bad cold into a life-or-death struggle.

Learn more about the different types of dwarfism in the "What is Dwarfism?" feature.

Keep in mind that I'm talking only about achondroplasia. At least two-thirds of all dwarfs are "achons," as they are sometimes called. But something like two hundred different types of dwarfism have been identified, some of them unnamed and specific to one individual, some quite disabling. People with the most common types of dwarfism other than achondroplasia — diastrophic dysplasia, pseudoachondroplasia (despite its name, not genetically related to achondroplasia at all), and spondyloepiphyseal dysplasia congenital (known simply as SEDc, or SED) — often have to undergo numerous orthopedic surgeries from infancy on. Some can only walk short distances, using crutches, scooters, and wheelchairs to get around.

So, yes, dwarfism, even achondroplastic dwarfism, is a disability, and not just a socially constructed one. But it's a difference, too, and many within the community take great pride in that difference. Ruth Ricker, an achondroplastic dwarf and a past president of the Little People of America, goes as far as to say that though she would like to see medical advances eliminate the complications of dwarfism, she would object to the elimination of the short stature that is its most obvious characteristic. "To change the dwarfism itself, as in the height — I think it would be hard for many of us, psychologically, to say we'd do that, because it's so intertwined with what makes us us," she once told me. "It would deny an integral part of myself that I have some pride in. It could be the end of achondroplasia."

Thus the answer to the "defect or difference?" conundrum is: both. Each of us has something like 30,000 genes, and random mutations are not uncommon. It's just that the effects of the mutation that causes dwarfism are so obvious. As with the genetic difference that causes one person's eyes to be brown and another's blue, the mutation that causes dwarfism says nothing important about the individual who has it. But as with the genetic difference that causes Down syndrome, or Lou Gehrig's disease, it is indeed, a mistake, an error, a cosmic typo imprinted on each of the many billions of cells that the average human body contains.

Once, someone posted a message to the Dwarfism List saying something to the effect of I am not a mistake — a variation of "God doesn't make mistakes." Someone else posted a response that I think got perfectly at the difference/defect divide. I'm paraphrasing, but it went pretty much like this: Of course you're not a mistake. People aren't mistakes. On the other hand, genomes can contain mistakes, and dwarfism is clearly a mistake. But we are all more than the sum of our genomes.

Dan Kennedy is a visiting professor of journalism at Northeastern University and a contributing writer for the Boston Phoenix. His articles have also appeared in publications such as The New Republic, Salon and Slate. He is the editor of the Little People of America website. He lives in Danvers, Massachusetts with his family and can be reached through his personal website at dankennedy.net. This excerpt appears here with permission from the author.





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