Treacher Collins: 5 Things Parents Should Know

We adopted Shana from China when she was seven. She had lived in an orphanage for special needs children her whole life. It was pretty obvious that she had never learned to run and play. She did not laugh. They did not seem to expect her to amount to much. From photos, we saw that she had a different face, and had no external ears.

When she came home, we learned that she had a cleft soft palate. After genetic testing, the doctors at Cincinnati Children’s confirmed she has Treacher Collins syndrome.

Treacher Collins is a genetic condition, which does not let your skull and face form in a correct way in the womb. It’s congenital. You are born with it – you can’t catch it. Half of cases are inherited from a parent and the other half are random gene mutations.

For Shana, she has a small lower jaw, which means she has a narrow airway. Her eyes slant downward and her lower eyelids droop. She only has earlobes, no ears nor ear canals. Shana is missing bone in some areas of her skull. A cleft soft palate (the soft area in the back of your throat) made it hard for her to speak.

When you pass Shana in the grocery store, it is likely that you would assume that she is “slow” – most people do – but she isn’t. Her intelligence, and emotional and social development are like everyone else. People with Treacher Collins have physical differences, but rarely have intellectual differences.

I’d like to tell you a little more about my daughter. I hope that they will help you see the 12 year old in front of you, rather than her condition.

5 things I want you to know about my daughter with Treacher Collins

Shana is not normal. I don’t mean the way her jaws are set back in her face – I mean how resilient she is. To help her speak, she had a surgery to put in a pharyngeal flap. She didn’t complain. To help her hear, she had a post implanted into her skull for a bone-anchored hearing aid. Again, no complaints. To help her breathe better, she had surgery to sever both jaws so they can move forward and re-heal. As I write this, she has almost two dozen screws in her head for the device that pulls her jaws forward. Her biggest complaint was not that she has an incision from ear to ear across the top of her head. It’s that her surgeon had to cut her hair to do the surgery. She is braver than I could ever be.

Shana is not normal. I don’t mean how it’s sometimes tough to understand what she’s saying, I mean how brilliant she is. Like the way she always seems to have a song in her head. She loves music – and like most 12 year-olds, some of it is not to her parent’s liking. She is creative, and colorful. Loves to draw and write. She’s clever too, spending hours putting together puzzles with thousands of pieces. All this, and she reads above grade level after not having spoken a word of English until she was almost 8.

Shana is not normal. I don’t mean the way her eyes slant downward, I mean how she loves the outdoors. On a nice day, you often find her outside playing. Until it gets too hot in the summer. Shana loves the outdoors, but is not a big fan of getting too sweaty. Trampoline, check. Swings, check. She also likes to garden. She enjoys planting flowers and plants and helping them grow. Even pulling weeds and cleaning the rabbit’s pen in the back yard.

Shana is not normal. I don’t mean that she has no external ears, I mean how tough she is. Kids in school say she looks weird. They pick on her and call her names. In the store, people say she looks freaky. Kids say, “Mom, what’s wrong with her?” Well-meaning adults treat her different because of the way she looks. Shana hears it all, and she knows how people judge her. Young people and old people. Well-intentioned people and mean people. And she does not understand it. Ever. We hear her cry in the car on the way home from school, or sitting in the living room, or in her bedroom alone. You won’t see it. She’s too tough to let you know how much you’ve hurt her.

Shana is not normal. I don’t mean how her eyes are sometimes red and irritated, I mean how she wants to be like everyone else. She wants ears. She has no ear canals, and the doctors can’t create them for her through surgery. Physical ears won’t help her hear better. Shana simply wants to be able to tuck her hair back behind her ears. Or tie her hair back in a ponytail without everyone commenting about her missing ears. She has plans for when she grows up, and does not want a little thing like looking different or missing ears to stop her. To grow up and go to college, travel, get a job, raise a family of her own. Just like a normal girl.