[Nfbmo] From the Living with Disabilities Series

[nancy Lynn]

This is a great article that I got from another list.

  
DISABILITY. My 'Orphan Disease' Gave Me a New Family. 
By ROSEMARIE GARLAND-THOMSON. Rosemarie Garland-Thomson is a bioethicist and
professor of English at Emory University, where she is a founding director
of the Disability Studies Initiative.. 

The members of my family share a number of traits, but not one of them looks
quite like me. Many of us have the same sturdy physique, blue eyes, fine
Northern European hair and skin that should never see bright sun. I look
pretty much like that except for one very unusual characteristic. I was born
with asymmetrical, atypical hands and forearms into a world where symmetry
and typicality are the marks of good looks and proper function. In fact, I
am so unusual that in the half century of my lifetime, I have encountered
only one other person who looks precisely like me. In other words, I'm
rare.. I recently learned that I am distinguished in this way because I have
a rare genetic condition -- complex syndactyly. Before I learned this, no
medical doctor had ever presented a diagnosis more helpful than a shrug.
Before being able to identify and give a name to what I have, I was subject
to plenty of unsavory terms: 'freak of nature,' 'funny-looking kid,'
'deformed,' 'birth anomaly,' 'sporadic limb deficiency. The most
disagreeable and persistent was 'birth defect,' the unfortunate outcome of
whatever sin or defilement could be guessed at or imagined -- alcohol
consumption, pollution, environmental contamination. 
With no impressive diagnosis to offer to the perpetual query about 'what
happened' to me, I usually resorted to, 'I was born that way. I'm glad to
now have a 'rare genetic condition' instead of a 'birth defect. Anything
'rare' has prestige, suggesting something sought after and prized by
important collectors, archaeologists or scientists. Indeed, so exceptional
is my way of being that fewer than one in 90,000 people are enough like me
to receive the same diagnosis. It's a bit like winning the lottery. Before
decades of scientific work gave us the genome map in 2003, our ways to
explain unexpected human variation were limited. People like me were
inexplicable. As often happens with the inexplicable, supernatural and
superstitious reasoning rushed in. Mother-blaming and divine retribution
were prominent. Mortal sins, erotic thoughts or any violation of the social
code was thought to produce a disabled child. Modern versions of this
superstition haunt the mothers of congenitally disabled children; they
experience corrosive guilt about exposure to toxins ranging from face cream
and nail polish, alcohol and cigarettes, to thalidomide and the BPA in our
plastic bottles. People with disabilities were then and are now taken as
cautions or warnings of bad things past or future, canaries in the coal mine
of human existence. But things have changed. 'Rare' is now an inflection in
my personal dignity tool kit, a status upgrade. Even 'syndrome' has an air
of sophistication, an augmentation rather than the lessening that 'deficit'
or 'defect' brings. It's something you have instead of something you don't
have. More important, my form is not a mistake, some random whack from a
menacing outside world. My shape is intentional, manifesting deliberately
from some mysterious purpose at the very core of my being. Evolution's
purposive caprice, some inexplicable force beyond our puny human
imagination, is trying out a new design. Today, identifying genetic diseases
is a growth industry, powered by scientific-research funding and lucrative
commercial interests. With testing available everywhere now, from private
companies to clinics, people whose genetic diseases have been identified are
an increasing population. All of us, it turns out, are carriers for at least
eight to 10 common, significant genetic diseases and even more rare,
enigmatic conditions. What this tells us is that we are all related to one
another through a system of genetic lineage that almost no one understood
until recently. These genetic kinship circles are expanding and connecting
us through networks of recessive, dominant and autosomal genes;
mitochondrial DNA; and complex interactions with the environment that shape
how genes express themselves as we develop. Medical science has discovered
more than 7,000 genetic diseases, and new ones emerge every day. People in
my world of disability pride and advocacy sometimes call themselves by
tribal names such as 'a thalidomide' or 'a polio' or even 'crips. Our new
genetic identities now yield more complex affinities. Rare genetic
conditions are also called 'orphan diseases. Now that I have an orphan
disease instead of a birth defect, I'm no longer an orphan but instead newly
a member of several distinctive tribes, a heretofore hidden web of kinship
and clan affiliations. Resemblances are crucial to kinship, whether
familial, tribal or ethnic. What we look like tells us and other people to
whom we belong. Our distinctive traits gather us in kinship networks that
often provide us with alternative families of mutual care and support. In a
recent conversation about Crispr, the newest genetic editing tool, the
geneticist and Nobel laureate Mario R. Capecchi told me, 'The purpose of
evolution is to anticipate the unexpected. Random genetic variation is what
moves evolution forward, yielding new forms that are fresh solutions to
changing environments both natural and human designed. The short span of
human life and imagination limits our capacities to anticipate the
unexpected. Ways of being that meet the demands of human life as we live it
here and now may not serve our distant descendants so well. Characteristics
we think of as intelligence, strength, vision, uprightness, dexterity, body
mass or whiteness will outlive their usefulness, morphing from advantages to
disadvantages, counterintuitive though that seems today, especially perhaps
to those who have those valued traits and benefit from them. Capecchi's
framing of evolution's purpose as anticipating the unexpected can give us
progressive perceptions about living with disabilities and stand as a
caution against hubris and narcissism in our aspirations to shape our human
communities according to the traits valued by the majority. People with
disabilities are the unexpected made flesh. The challenges of living in a
world not built for us are occasions for resourcefulness and adaptability,
especially for those of us who start out disabled early in life. We are
innovators, early adopters, expert users and technology hackers as we
respond to the adversity that the built and natural environments present us.
We don't know which human variations will be advantages and which will be
disadvantages in the long arc of our struggle to prevail in an ever-changing
environment. My blind friend with excellent orientation skills quips that
she will be leading all of us out of burning buildings and planes when the
lights go out. My deaf friends avoid the stress of noise pollution and the
exhaustion of talking over the incessant din in fashionable bars in which
social and professional life takes place now. Another friend, who is a small
person, remarks that he consumes fewer resources and fits better into
airplane spaces than big guys good at fighting and football. Some people
with autism have a capacity to focus that boosts creativity. Expertise at
composing with my voice instead of clunky keyboards puts me ahead in new
communication technology. The bright line between the healthy and the
diseased, those who 'have' a disease and those that don't, grows dimmer
every day. Each of us carries within us many 'orphan diseases' -- that
faintly Dickensian phrase that typically severs the connection between
people like me and the human family of ordinary people. All of us are
anything but 'orphans. Instead, we are all second or third cousins,
inextricably linked through a chain of quickly vanishing ancestors and
descendants. We are all patients-in-waiting, bound together on a wait list
of inheritance hidden deep in the elegant whirls of that double helix in
every one of our cells -- silently paused in its inscrutable determination
to shape our lives. All those clich? s of connectedness are now encoded in
our genes. The human community is quite literally the human family. We
disabled are no longer orphans. We are instead a sturdy tribe, blood kin,
navigating a changing world, living well, bonding fast and passing it on.



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Posted by: "Tony Swartz" <tbswartz at ptd.net> 
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