Wednesday, February 9, 2011

Let's Face Facts

Lest you think this blog is all fluff and falafel, it’s time to deal with the serious stuff.  And you probably thought that was when I admitted to being a former bed wetter who can’t smell and is frightened of fax machines!  Ha!
This blog is about being open about who I am and why I am the way I am.  And I can’t do that without telling you about Treacher Collins Syndrome (TCS).  (Disclaimers - this isn’t PubMed and my medical info is probably as accurate as an episode of Grey’s Anatomy.  If you happen to stumble across this blog and 1) have TCS or 2) have a family member/friend with TCS who needs specific answers, email me and I'll put you in touch with people who know more than me.  And to my fellow TCSers, we’re all as different as our decisions to have a jaw distraction versus a traditional jaw surgery or to go to surgeons in New York versus Norfolk, you might disagree with me or be offended by what I say…but this is my story of living my life with TCS…it wasn’t always the best way, but it was my way.  And it’s my blog, so I can write whatever I want.)       
You can go to the font of all knowledge to find out about TCS and read about underdeveloped mandibular bones, micrognathia, zygomas, ear anomalies, colobomas, and my favorite, preauricular hair displacement.  But that’s a lot of big words so here’s how it relates to me.  I was born with a small jaw, a recessed chin, no cheekbones, a “notch” at the corner of my right eye with a weird little clump of eyelashes, small ears, and preauricular hair displacement.  This is a picture of me taken right after I was born.  The small ears tipped off my parents that I wasn’t your average baby.  I also look really annoyed about something...just another day at the office, I suppose.
In addition, I have a conductive hearing loss that requires me to wear a hearing aid.  I've worn a hearing aid since I was three months I haven't missed out on too much.  My inability to smell, surprisingly, has nothing to do with TCS.  My case of TCS is considered moderate, my brother has a mild expression, and some of my friends have more severe expressions of it.  It does not affect overall health, intellect, or physical capacity.  So, when I do something stupid, it’s because I don’t have any common sense…not because I wasn't born with my zygomas.       
So, how’d I end up with this?  We’re not really sure.  It’s either a genetic or spontaneous mutation.  Aside from my brother, nobody else in my large family manifests signs of the syndrome.  When I was little, my parents were advised that we were a rare case of two spontaneous mutations occurring in one family.  I’m surprised that my parents weren’t buying lottery tickets every night because, really, what are the chances?  However, recent genetic discoveries are poking holes in that advice leading us to believe that we’re not spontaneous mutations after all.  So much for feeling special!  So, it’s still a mystery.  But if you know me well, you know that I love a good mystery. 
I’ve had a couple of surgeries.  I was fortunate enough to be operated on twice by the “father of craniofacial surgery,” the late Dr. Paul Tessier.  If you’re gonna have your face peeled off and bones popped into place, you kinda want the guy who basically invented the game.  Even if he was from France.  I had my two major surgeries at nine and 18 years old.  When I was nine, the doctors took bone from my skull and gave me cheekbones.  In a total rip-off, I had to get new cheekbones when I was 21 because the first ones reabsorbed.  You pay good money for cheekbones, you expect them to last 20 years or so, right?  Now my cheekbones are made of medical Play-doh or something and, I’m sad to say, I think they’re reabsorbing.  Do I want to go for a three-peat?  Some days, yes.  Most days, no.  The surgery that I had when I was 18 was life-changing…that was my jaw surgery and, in my opinion, was the surgery that made me look really different.  It certainly cut down on the number of people who stared at me out of curiosity.  Do I think about having more surgeries?  Like I said before, sometimes; but those sometimes are happening less often these days.  I think I’ve finally made a little peace with the face that I’ve got.    
Now, because I’m a history geek, I’m gonna give you a little history lesson.  TCS was first described in 1900 by an English surgeon, Dr. Edward Treacher Collins (I’m not sure but I think the name’s a coincidence.)  I believe that I’ve found evidence of TCS prior to 1900 though.  When I was in Bath this past autumn, I ran into this guy.  He clearly manifests some of the characteristics of TCS!  He’s also wearing quite the toga, don’t you think?


  1. Hi, Denise, I didn't know that you were such a prolific writer. I enjoyed your blog and your life's story even though I lived through it all with you. You gave it a different slant which I wholeheartedly enjoyed. Love, Aunt Helen

  2. Denise - you are indeed a wonderful interesting writer and I enjoy you so much. You are quite funny and clever too! I wanted to tell you about your comment regarding TCS and Edward Treacher Collins. First, you are right; other people described TCS as well, but he was the ophthalmologist who described it and got the credit for it. (That bothers Dr. Wolfe in Florida so much that he refuses to call it TCS and calls it TCF syndrome Franceschetti described it before Edward Treacher Collins (and the reason Wolfe thinks he deserves credit in the name) but isn't as well known for it. I've never fully understood about Edward's name, in that I've always wondered if he was born out of wedlock or something. They don't indicate that (but always refer to her as Miss Treacher) so I don't understand why he took his mother's maiden name (Treacher) otherwise as his forename. In today's time, we'd write Treacher-Collins but in his time, it was Treacher Collins without the hyphen. So his last name is actually Treacher Collins, not Collins, as one (I) would think. So, that makes it Treacher Collins syndrome instead of Collins syndrome. I don't know if you were joking (or how much) about his name being a coincidence so thought I'd share that tidbit with you anyway. :) Btw, you were a gorgeous baby and did not look annoyed or angry at anything - you are so sweet looking in that picture!

  3. Judy, thanks for the interesting trivia! I'll let you in on a secret...I hate the term "Treacher Collins," I think it's the worst name ever for a syndrome! When I found out that most Europeans call it Franceschetti Syndrome, I was actually kinda sounds a lot more glamorous!

    Thanks for saying I looked sweet. That picture was probably taken before I developed colic!

    Thanks for reading and the words of support!