Info

  • Produced in 2004

  • Total Running Tiem: 50 minutes

  • Producer & Director: Courtney Everett Enlow

  • Written By: Kirk Streb & Kami Carter

  • Full Cast & Crew Credits

Photos

Outside Resources

Unmaksed: Treacher Collins Syndrome

Synopsis

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...

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!