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<P>DISABILITY. My 'Orphan Disease' Gave Me a New Family. <BR>By ROSEMARIE
GARLAND-THOMSON. Rosemarie Garland-Thomson is a bioethicist and<BR>professor of
English at Emory University, where she is a founding director<BR>of the
Disability Studies Initiative.. <BR><BR>The members of my family share a number
of traits, but not one of them looks<BR>quite like me. Many of us have the same
sturdy physique, blue eyes, fine<BR>Northern European hair and skin that should
never see bright sun. I look<BR>pretty much like that except for one very
unusual characteristic. I was born<BR>with asymmetrical, atypical hands and
forearms into a world where symmetry<BR>and typicality are the marks of good
looks and proper function. In fact, I<BR>am so unusual that in the half century
of my lifetime, I have encountered<BR>only one other person who looks precisely
like me. In other words, I'm<BR>rare.. I recently learned that I am
distinguished in this way because I have<BR>a rare genetic condition -- complex
syndactyly. Before I learned this, no<BR>medical doctor had ever presented a
diagnosis more helpful than a shrug.<BR>Before being able to identify and give a
name to what I have, I was subject<BR>to plenty of unsavory terms: 'freak of
nature,' 'funny-looking kid,'<BR>'deformed,' 'birth anomaly,' 'sporadic limb
deficiency. The most<BR>disagreeable and persistent was 'birth defect,' the
unfortunate outcome of<BR>whatever sin or defilement could be guessed at or
imagined -- alcohol<BR>consumption, pollution, environmental contamination.
<BR>With no impressive diagnosis to offer to the perpetual query about
'what<BR>happened' to me, I usually resorted to, 'I was born that way. I'm glad
to<BR>now have a 'rare genetic condition' instead of a 'birth defect.
Anything<BR>'rare' has prestige, suggesting something sought after and prized
by<BR>important collectors, archaeologists or scientists. Indeed, so
exceptional<BR>is my way of being that fewer than one in 90,000 people are
enough like me<BR>to receive the same diagnosis. It's a bit like winning the
lottery. Before<BR>decades of scientific work gave us the genome map in 2003,
our ways to<BR>explain unexpected human variation were limited. People like me
were<BR>inexplicable. As often happens with the inexplicable, supernatural
and<BR>superstitious reasoning rushed in. Mother-blaming and divine
retribution<BR>were prominent. Mortal sins, erotic thoughts or any violation of
the social<BR>code was thought to produce a disabled child. Modern versions of
this<BR>superstition haunt the mothers of congenitally disabled children;
they<BR>experience corrosive guilt about exposure to toxins ranging from face
cream<BR>and nail polish, alcohol and cigarettes, to thalidomide and the BPA in
our<BR>plastic bottles. People with disabilities were then and are now taken
as<BR>cautions or warnings of bad things past or future, canaries in the coal
mine<BR>of human existence. But things have changed. 'Rare' is now an inflection
in<BR>my personal dignity tool kit, a status upgrade. Even 'syndrome' has an
air<BR>of sophistication, an augmentation rather than the lessening that
'deficit'<BR>or 'defect' brings. It's something you have instead of something
you don't<BR>have. More important, my form is not a mistake, some random whack
from a<BR>menacing outside world. My shape is intentional, manifesting
deliberately<BR>from some mysterious purpose at the very core of my being.
Evolution's<BR>purposive caprice, some inexplicable force beyond our puny
human<BR>imagination, is trying out a new design. Today, identifying genetic
diseases<BR>is a growth industry, powered by scientific-research funding and
lucrative<BR>commercial interests. With testing available everywhere now, from
private<BR>companies to clinics, people whose genetic diseases have been
identified are<BR>an increasing population. All of us, it turns out, are
carriers for at least<BR>eight to 10 common, significant genetic diseases and
even more rare,<BR>enigmatic conditions. What this tells us is that we are all
related to one<BR>another through a system of genetic lineage that almost no one
understood<BR>until recently. These genetic kinship circles are expanding and
connecting<BR>us through networks of recessive, dominant and autosomal
genes;<BR>mitochondrial DNA; and complex interactions with the environment that
shape<BR>how genes express themselves as we develop. Medical science has
discovered<BR>more than 7,000 genetic diseases, and new ones emerge every day.
People in<BR>my world of disability pride and advocacy sometimes call themselves
by<BR>tribal names such as 'a thalidomide' or 'a polio' or even 'crips. Our
new<BR>genetic identities now yield more complex affinities. Rare
genetic<BR>conditions are also called 'orphan diseases. Now that I have an
orphan<BR>disease instead of a birth defect, I'm no longer an orphan but instead
newly<BR>a member of several distinctive tribes, a heretofore hidden web of
kinship<BR>and clan affiliations. Resemblances are crucial to kinship,
whether<BR>familial, tribal or ethnic. What we look like tells us and other
people to<BR>whom we belong. Our distinctive traits gather us in kinship
networks that<BR>often provide us with alternative families of mutual care and
support. In a<BR>recent conversation about Crispr, the newest genetic editing
tool, the<BR>geneticist and Nobel laureate Mario R. Capecchi told me, 'The
purpose of<BR>evolution is to anticipate the unexpected. Random genetic
variation is what<BR>moves evolution forward, yielding new forms that are fresh
solutions to<BR>changing environments both natural and human designed. The short
span of<BR>human life and imagination limits our capacities to anticipate
the<BR>unexpected. Ways of being that meet the demands of human life as we live
it<BR>here and now may not serve our distant descendants so well.
Characteristics<BR>we think of as intelligence, strength, vision, uprightness,
dexterity, body<BR>mass or whiteness will outlive their usefulness, morphing
from advantages to<BR>disadvantages, counterintuitive though that seems today,
especially perhaps<BR>to those who have those valued traits and benefit from
them. Capecchi's<BR>framing of evolution's purpose as anticipating the
unexpected can give us<BR>progressive perceptions about living with disabilities
and stand as a<BR>caution against hubris and narcissism in our aspirations to
shape our human<BR>communities according to the traits valued by the majority.
People with<BR>disabilities are the unexpected made flesh. The challenges of
living in a<BR>world not built for us are occasions for resourcefulness and
adaptability,<BR>especially for those of us who start out disabled early in
life. We are<BR>innovators, early adopters, expert users and technology hackers
as we<BR>respond to the adversity that the built and natural environments
present us.<BR>We don't know which human variations will be advantages and which
will be<BR>disadvantages in the long arc of our struggle to prevail in an
ever-changing<BR>environment. My blind friend with excellent orientation skills
quips that<BR>she will be leading all of us out of burning buildings and planes
when the<BR>lights go out. My deaf friends avoid the stress of noise pollution
and the<BR>exhaustion of talking over the incessant din in fashionable bars in
which<BR>social and professional life takes place now. Another friend, who is a
small<BR>person, remarks that he consumes fewer resources and fits better
into<BR>airplane spaces than big guys good at fighting and football. Some
people<BR>with autism have a capacity to focus that boosts creativity. Expertise
at<BR>composing with my voice instead of clunky keyboards puts me ahead in
new<BR>communication technology. The bright line between the healthy and
the<BR>diseased, those who 'have' a disease and those that don't, grows
dimmer<BR>every day. Each of us carries within us many 'orphan diseases' --
that<BR>faintly Dickensian phrase that typically severs the connection
between<BR>people like me and the human family of ordinary people. All of us
are<BR>anything but 'orphans. Instead, we are all second or third
cousins,<BR>inextricably linked through a chain of quickly vanishing ancestors
and<BR>descendants. We are all patients-in-waiting, bound together on a wait
list<BR>of inheritance hidden deep in the elegant whirls of that double helix
in<BR>every one of our cells -- silently paused in its inscrutable
determination<BR>to shape our lives. All those clich? s of connectedness are now
encoded in<BR>our genes. The human community is quite literally the human
family. We<BR>disabled are no longer orphans. We are instead a sturdy tribe,
blood kin,<BR>navigating a changing world, living well, bonding fast and passing
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}
#ygrp-sponsor #ov li a {
font-size: 130%;
text-decoration: none;
}
#ygrp-sponsor #ov li {
font-size: 77%;
list-style-type: square;
padding: 6px 0;
}
#ygrp-sponsor #ov ul {
margin: 0;
padding: 0 0 0 8px;
}
#ygrp-text {
font-family: georgia;
}
#ygrp-text p {
margin: 0 0 1em 0;
}
#ygrp-text tt {
font-size: 120%;
}
#ygrp-vital ul li:last-child {
border-right: none !important;
}
-->
</STYLE>
<!--~-|**|PrettyHtmlEnd|**|-~--><!-- end group email --></DIV></DIV></DIV></DIV></DIV></DIV></BODY></HTML>