Saethre-Chotzen Syndrome

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Saethre-Chotzen Syndrome
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    Community Voices

    I have serious concerns about my life. This facial disability caused mild deformities, but still people will often stare at me. I have never been on a date with a girl before and will most likely die a virgin. I keep wondering if people with similar conditions as mine ever lead normal lives. I wonder if plastic surgery will help the face appear a bit more normal. Any stories will greatly help
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    Community Voices

    Hello everyone, I would really appreciate answers. So I am a 20 year old make with a craniofacial disability. Do these people ever live normal lives?

    When You and Your Child Live in the Shadow of Her Next Doctor’s Appointment

    I was talking to my husband about how I feel like we walk around with the looming threat of surgery over us all the time. At any appointment we have for our daughter, it seems there is always the possibility of some surgery. Eye surgery, ear tubes, tonsillectomy and adenoidectomy, frontal orbital advancement and posterior cranial vault distraction, or midface advancement distraction, or possibly a foot surgery, other bone surgeries, spine surgery, dental surgeries — and there may be more we haven’t even got to yet. The thing is, no doctor has told us that she definitely doesn’t need a surgery — whatever the surgery of the day is. And I don’t think they ever will. So insert the word “wait.” Leading up to a doctor’s appointment, I find myself holding my breath and anticipating the appointment when we hear she does have to go through another surgery. And every time I hear the word “wait,” I can breathe again. We’ve bought some more time. The funny thing about time is that it is covered by this cloud of waiting. The looming threat, always hovering over us as a reminder of a potential storm that may come. So we find ourselves living our lives in the shadow of the next doctor’s appointment. We make all our plans based on the possibility of surgery. “Vacation? That’s funny! But what if she never gets to see the ocean?” All our conversations, all our decisions, all our plans have something to do with doctor’s appointments and the threat of surgery. But I realized the real threat is letting the possibility of what could happen make us put our lives on hold. Saethre-Chotzen syndrome isn’t going away. Our daughter is likely to have doctors appointments for the next 20 years. What if we get lucky enough to hear the word “wait” at every appointment? “Wait” is the best word we can hear at the doctor’s office. But we have to leave it there. We can’t put our life on hold as we wait for the next appointment, the next report, the next outcome. What if we took our daughter to the beach and she still didn’t have a surgery? What if we took her to the beach and she did end up having a surgery? What if, in the “wait,” we lived like the outcome of a day two months from now didn’t matter at all? What if we lived life today? I think if we can figure out how to do that, then we are close to mastering this thing. And it’s hard! It’s a learning process. And I know we will have better days, better years, than others. But I want to step out from underneath the cloud. I want to walk in the sun. My daughter deserves the sun. Aimee and her daughter. A version of this post first appeared on My Brave Joy. The Mighty is asking its readers the following: What’s one secret about you or your loved one’s disability and/or disease that no one talks about? If you’d like to participate, please send a blog post to Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Submit a Story page for more about our submission guidelines.

    Nell Gow
    Nell Gow @nell-gow

    What I Didn't Know the Day My Son Was Diagnosed With Saethre-Chotzen

    Today, the doctors will tell you that your baby boy is missing part of his DNA, and they do not know exactly how this will affect him. I know you want to meet the news with dignity and grace, because this is not a diagnosis. This is your son, and you enthusiastically accept every part of him. As you sit in front of the panel of experts, you will be commendably cool and calm, nodding at their carefully-worded responses as your stomach knots and your throat aches. They won’t see the ball of emotion that is rising slowly from within. You will securely place your beautiful firstborn in his car seat, hop in the passenger side, and wait until your husband pulls onto the highway before, finally, the tears come. You will sob as a sadness takes over that you have no word for. In the days, weeks and months ahead, that sadness will visit you. It will surround your worries and fears and blur your visions of the future with its salty tears. And the sadness will make you feel guilty, because you never want to feel this way. I am writing you to say: Everything is OK. The sadness that is hurting you — embrace it. You are not a bad person for dreading this challenge. This pain is nothing to be ashamed of or hide from. This journey can chew you up and spit you out, pummel you down and lift you up. You may laugh with abandon and cry with despair, sometimes at exactly the same time. I am not going to lie — this is going to be hard. But… It will also be the most joyful and rewarding experience of your life. You’ll feel gratitude for the smallest things. You will learn a new respect and acceptance for others. You will help spread awareness of rare disorders and craniofacial anomalies. Your community will come together in such unexpected ways to support your son’s journey. Oh, and your son — what an amazing person he is. He will continually surprise and delight you with each of his successes. His personality will be wonderful and unique. He will melt hearts and break down barriers wherever he goes. And dear one, he looks happy. So here I sit, your future self, sending love to you always through this incredible journey and letting you know: Everything is OK. Nell and her son. The Mighty is asking its readers the following: If you could go back to the day you (or a loved one) got a diagnosis, what would you tell yourself? If you’d like to participate, please send a blog post to Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Submit a Story page for more about our submission guidelines.

    Nell Gow
    Nell Gow @nell-gow

    Saethre-Chotzen Syndrome: Responding to People About My Son's Face

    “Why does his face look weird?” She said it with a look as if she were trying to solve a puzzle — all frowns and confusion. This look and similar questions are something we encounter every week, predominantly from children, although an occasional adult asks, too. Some are direct, while others stumble over a few uhms before getting out the intended query. Before I was pregnant, I would think about the children I wanted. And the thought, or fear I guess, that crossed my mind was, “I hope they are OK. I hope they are normal.” I get nervous even typing that sentence because it sounds so completely horrible. I know I wasn’t alone with that fear. My husband, Steve, admitted similar thoughts, and I can only assume most of the human population just want their children to be “normal.” When my son, Boston, was born I fell head over heels in love with him. I wouldn’t swap him for any baby in the whole wide world. But I did have times of absolute grief when I realized he was automatically put in the “different” pile. I worried how it would affect him. His emotions, self-worth, getting ahead in the world, being accepted by others and his love life. Would he be teased or bullied? Would this lead to other problems? And yes, I will admit when I first saw those puzzling looks and heard comments about “that baby’s head,” my mama bear bristles stood on end and my heart ached for him. I just wanted people to see him as Boston, not as the baby with the different head and not as the kid with Saethre-Chotzen syndrome. But guess what? We are humans, and humans need to understand what they see. They need to explain their world in part through this sense, and they’re also fearful of the unknown. To those who don’t know him, Boston will be someone who looks unique. He may be described in this way just like someone is described by the way they dress, the color of their skin, the gait they walk or the height they reach. Model Cameron Russell said it perfectly during a TED talk: “Image is powerful, but also, image is superficial.” What I have come to embrace is that Boston is different. The way he looks is not all of who he is, but it’s a powerful part of him. I don’t want him to feel like he has to hide those differences or try to blend in with everyone else. I want him to be proud of each piece of the puzzle that makes him whole, and I want him to feel confident to express who he is to everyone he meets. What I want for myself is to leave all the prejudices I unconsciously had far behind me. There were times when I was scared of those who were different. They were obviously harmless, but they were still different enough for me to feel uncomfortable and scared. I wouldn’t act correctly or I would offend them. Now I am the one seeing puzzled stares. When someone takes the time to actually voice their questions (in a polite way of, course), I really admire them. I wish we could all feel safe and confident about embracing each others’ differences. Maybe then there would be less fear, less bullying and less trying to hide our true selves. I ask that anyone who can relate to what I am saying or feels moved at all, please practice acceptance of others and teach your children through all you do and say. So how do I answer when someone asks me, “Why does his face look weird?” Well simply, that’s just the way Boston was born. We are all born different, and that’s a really fantastic thing.