[AI] world's first gene therapy

Dr. Vipin Malhotra malhotravipin at yahoo.com
Sat Jul 28 21:53:46 EDT 2007


Rebecca Atkinson is going blind. An experimental
therapy could offer her
the
chance to see again but would she take it?
Tuesday July 17, 2007
The Guardian
Earlier this year, doctors at Moorfields Eye Hospital,
London, began the
world's first gene therapy trials to treat 12 patients
who have Leber's
congenital amaurosis, a condition that causes
progressive sight loss.
Following successful animal trials (said to have
restored the vision of
blind dogs so they could navigate a maze without
difficulty), it is hoped
that the technique, which involves injecting working
copies of faulty
genes
directly into the retina, will prove equally effective
when carried out
on
humans. The results will not be made public for a year
but, if the
technique
works, scientists hope it could eventually be used to
treat a wide range
of
inherited sight disorders affecting up to 30,000
visually impaired people
in
the UK and potentially millions more worldwide.
The first viable treatment for blindness is twinkling
on the horizon and
as
one reader said on a national newspaper message board
discussing the
trials,
"The possibility of being able to give improved sight
to people with
visual
impairments is a great development for the human
race." but what of the
people we seek to repair?
Those who have been born blind and those, like me, who
are losing or have
lost their vision. Is this what we have been waiting
for? Is it "a great
development for the human race", or a step forward in
the eugenic quest
for
an uber race, free of imperfection and rid of the
unease about disability
that nestles quietly in society's pocket?
For the past 13 years I have been losing my sight, due
to a genetic and
incurable condition called retinitis pigmentosa (RP).
RP causes the
photoreceptive cells on the retina to die off,
causing, in my case,
tunnel
vision. I liken it to looking at the world down the
middle of two toilet
rolls. My central vision remains intact, but where
once was peripheral
vision now float only my thoughts. In time these loo
rolls will shrink to
knotholes and then pinholes and then possibly nothing.
In the early years after my diagnosis, blindness
remained a repulsive and
terrifying concept. Every year I would visit the
doctor and he would say
the
same thing that I must live and plan my life with the
certainty that
blindness was inevitable. And so, slowly over time,
that is what I
learned
to do.
But now the advent of gene therapy has pushed open a
chink in the door.
Disabled people have long asked themselves the
hypothetical "would you be
cured if you could?" question. Now, for the first
time, there is a
chance,
albeit very small, that maybe one day I might actually
get my sight back.
Hurrah, you cry. I must be thrilled.
Actually, I am a bit confused. It is easy to assume
that all visually
impaired people will be hammering down the doors
should gene therapy
prove
successful. But to say this is to assume that a blind
life is lesser and
that all blind people really want to be sighted. They
don't.
The first blind man I ever met, who also happened to
be my boss at the
time,
is one of them. I recently asked him if he would have
gene therapy if he
could. No, came his reply. Because, he tells me,
regaining sight is more
than just seeing again. There are issues of identity
and culture at stake
too. "As the blind from birth son of blind parents, I
am, in part of my
soul, defined by my blindness," he explains. "It
directly equates to
ethnic
or racial origin. If you give a black person the
choice to be white there
may well be significant advantages in such a deal:
more access to better
jobs; freedom from the shackles of ignorant prejudice;
in short, a step
closer to equality. But I'd bet most would turn the
offer down flat."
But what if, unlike my old boss, you haven't always
been blind? What if,
like me, you grew up with full vision and have seen
all the cliche ridden
things that those born totally blind are pitied for
never having seen 
the
sunset, your own reflection, the look in your lover's
eyes. What if your
soul is sighted, and then you go blind? You will cry
and wonder why. You
will hope and pray. You will wish it would all go
away. But the longer
your
sight has been on the slide, the more it seeps into
every crack of your
psyche until one day you are no longer the "sighted
person" who can't
see
any more. Somehow, strangely, in the dead of night,
your identity has
rolled
over in bed and you wake up and get out the other side
a "visually
impaired
person" and it feels like part of you.
It doesn't happen overnight, and perhaps it doesn't
happen to all who
sail
the strange seas of sight loss with me. But for me
there came a point
when
impending blindness was no longer my alien but my
friend. I had had my
time
as a sighted person. I had seen the world through my
eyes. Now it was
time
to touch it and smell it and hear it. When you lose
your vision you have
to
re learn the sorts of things that will allow you to
survive on the
planet,
such as crossing the road without being flattened.
Next you must tackle
the
real problem and learn to deal with the attitudes of
others as they morph
around you. Misconceptions start to spout from even
your oldest friends'
mouths because negative attitudes about blindness
permeate us all. You
are
about to cross over into the dark side and see what
wriggles and writhes
on
the underbelly of society. Folk will see you as the
sufferer, the
pitiful,
the afflicted, the subhuman that's you, yes, you. If
you use a cane or
a
dog, people will stare as you walk down the street.
People will assume
you
are more lacking in intelligence than your sighted
counterpart. People
you
have never met before will ask if you want children,
and if you do, they
will ask if the kids will have the same condition that
you have, and
whether
that is right or wrong. Welcome. Your reproductive
autonomy is in the
docks
of the moral courts of the nation's minds.
So if this underbelly is so wretched, surely if the
time comes when the
doctors are looming forth with a needle containing the
working version of
my
faulty gene and heralding the promise of a new day,
one with a bright
sunset
and me at the wheel of a fast car, I'll take it,
right? Anything to
escape?
No.
Saying yes to seeing again, even for someone who
wasn't born blind, isn't
easy. The repercussions would ripple beyond my eyes
into my friendships,
my
work, my relationship. Would I retain the unity I have
with my disabled
brethren if I could see? Or would I have different
friends, the type who
fall by the wayside now because they are not aware or
empathetic, or are
too
aesthetically obsessed? Would I lose the friends with
whom I have nothing
in
common but who remain in my phone book because they
get the blindness
thing?
And would it be right to dump them just because I can
see and don't need
their empathy any more? If I stepped into the pool of
"normal people"
again,
where would my identity go? The kernel of who I am has
been sucked into a
new body; now it would have to be sucked back into the
old one. And what
of
my relationship? Would we stay together or would I run
off to do all the
things I never got to do before? There is a high rate
of separation among
couples where one person gets a guide dog for the
first time. Why?
Because
suddenly they can do things on their own again. This
new found
independence
shifts the balance and cracks appear. If this can
happen with a dog,
think
what could happen with a pair of fully working eyes
and a car.
Going blind isn't a smooth ride, though. It comes down
and squishes you
under an insurmountable weight of grief and disbelief.
It is limiting,
frustrating and changes the way you do many of the
things you used to
enjoy
now you must dance with the light on and drive from
the back seat. But
like
the affirmation of near death, it affects more than
just your
physicality.
It gives you a unique perspective. It is a grand
experiment that most
don't
get to try; to observe as your brain rewires and watch
as the human body
adapts in infinite ways. When my vision began to get
worse, I bumped into
everything in my path because I was still careering
down the pavement at
the
speed of someone who could see. As my mind caught up
with my eyes, I
changed
the way I walked with more caution and less speed and
the perpetual
bumping and tripping stopped. Losing your sight is not
like just shutting
your eyes. The loss is so gradual that as one sense
dies others grow.
Suddenly you can smell the world and sense when
someone is standing out
of
your line of vision. Your brain grows on the inside
and things on the
outside start to matter less. I get to live my life
twice over in two
different bodies (the sighted one I used to have and
the partially
sighted
one I now have), and with that comes the privilege of
spying on the world
and its intricacies from multiple vantage points. It's
a cliche to say
that
disabled people are nicer. It is incorrect, in fact.
But for me, vision loss has made me more empathetic
and more open 
minded. I
have to take so often that I give more freely. When
you rely on friends
to
take you down Oxford street or a stranger to get you
across the road, you
think more consciously about what you give back and
battle with the
feeling
that you need them more than they need you.
But, strangely, I am happier like this than if I had
carried on down the
middle lane to mediocre city never having seen or felt
real loss and
known
how to appreciate the good things around me. I have
met people I would
never
have met had I been sighted, and we have been joined
together by the
common
bond of disability (and there is no glue that sets as
hard as that
squeezed
from the pores of a minority). When part of your body
starts to die you
feel
what it is to be human. You wake up from the slumber
of being just
another
idiot with an ipod because you are forced to work out
the bigger
questions.
Or at least ask them. Why am I here? Why is this
happening? You are alert
to
the immediacy and fragility of your life. You know
that the choices of
the
modern age do not and can not extend into every realm
of your life. You
can't choose to see (at least not yet). This is it.
The upshot? You live
in
the moment. You settle for your lot and love it.
The concept of sight loss as a positive thing is an
elusive one. It is
hard
to grasp when you have experienced it; and even harder
to grasp when you
haven't. It is not something I would have chosen, but
it is not something
I
wish hadn't happened.
Would I like to stop it getting worse? Yes, because
I'm only human and
sometimes I lie awake worrying how I'll cope when it's
all gone. But
would I
like to have gene therapy and see perfectly again?
Five years ago I'd
have
said yes. Now I'm not sure, because if this experiment
of going blind has
taught me anything, it is that what you lose in one
place you gain
elsewhere, and while a blind life is different to a
sighted life, it is
not
lesser. And ultimately it is better than having no
life at all.



       
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