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There is a group of people born
with a genetic disorder so rare,
most of us have never seen anyone
like them. For these individuals,
every day is spent confronting and
conquering the daily challenges
of looking very different. The condition
is called Treacher Collins Syndrome
and its effects go far beyond skin
deep.
One
in ten thousand children are born
with Treacher Collins, a syndrome
that creates a very distinct appearance
-- the jaw is underdeveloped, the
cheekbones are missing, the eyes
down-slanting, and the ears malformed
or missing. This syndrome can create
serious difficulties with eating,
breathing, and hearing. In Unmasked:
Treacher Collins Syndrome
we meet several remarkable people
with Treacher Collins Syndrome and
learn how they have overcome this
life altering syndrome.
Amie Osborn, now 25, was born with
a very severe form of this craniofacial
disorder.
Her blond hair frames a face that
is not typical -- her eyes lie crooked
across her brow; her nose protrudes
from a face with almost no cheekbones;
her jaw recedes and she is missing
her outer ears.
After
a lifetime of painful, sometimes
unsuccessful surgeries and numerous
encounters with a variety of medical
professionals, Amie holds a positive
outlook on life and works to educate
others about Treacher Collins Syndrome.
Her website is perhaps the biggest
resource for many people seeking
information about this topic. And,
most importantly, as a third-year
medical student, Amie proves that
the way she looks has no bearing
on her intelligence or ambition.
At
age 19, Lidia DiFrancesco is facing
other challenges associated with
Treacher Collins Syndrome. For Lidia,
the teenage years have been especially
difficult. She speaks candidly about
her fears and insecurities. She
also talks about how she deals with
rude comments, hurt feelings and
self-esteem issues. But with the
support of friends and family, Lidia
is learning to take one day at a
time and embrace any challenge head-on.
We
will meet Judy Mosher and her daughter,
both of whom were born with Treacher
Collins. Judy, who began an annual
Treacher Collins Retreat in 2001,
introduces us to several people
with Treacher Collins during this
amazing event where we'll see how
these experiences have been life-changing
for those who look different.
And
finally, we will meet 15-month old
Gabe Hafter, whose Treacher Collins
prohibits him from eating and swallowing
due to an extremely recessed jaw.
Gabe has been tube fed for his entire
life…he has never
known what it is like to eat food.
We follow Gabe through a dramatic
surgery that will extend his jaw
and allow him to eat for the first
time. The surgery is very visual
– rods are placed in his lower
jaw and screws are turned for several
weeks after the procedure in order
to increase the space in his jaw.
Marlene
and Stuart Dixon’s baby, Justin,
was just born with Treacher Collins
Syndrome. We hear the dramatic story
of his birth and watch as he is
fitted with hearing aids that will
allow him to hear for the very first
time!
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