L1 Syndrome

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L1 Syndrome
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  • About L1 Syndrome
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    Community Voices

    That special needs life

    Shortly after he was born, they did a blood test for genetic disorders, specifically for L1 CAM because they already knew (educated guess) that he had it . #L1Syndrome means there is a mutation of the L1 CAM gene on the x chromosome. His #Hydrocephalus is a symptom of this. Along with all of his other medical conditions. Logan has adducted thumbs, third nerve palsy, cortical visual impairment, a hernia, and this list will grow as he grows. His body just cannot seem to find homeostasis. He will be delayed developmentally. We do not measure his life by milestones but instead by what he shows us. Today he laughs and smiles and reaches to grab my long hair with the sweetest excitement. We do not know if he will walk or talk, but we will teach him as much as we can. Logan has therapies, lots of therapies. We have the dream team of therapists. Occupational, physical, play therapy, with a vision therapist being added soon.

    L1 syndrome is fascinating. It’s horrible too. Here is a link all about it, no reason to explain it all here when my new L1 mom friend wrote a whole blog about it. http://freshlymessy.com/what-is-l1-syndrome/

    Through this journey I have found a whole new network of L1 parent friends. They are going through or have been through everything we are facing. Nothing shocks them. It is an amazing group of people that feel like family already. I have been able to meet one mom and her son with L1. I cannot wait to meet more of them. We all have this amazing insta-connection. I’m so thankful for them. The best advice they’ve given me is that it’s okay to be sad, cry, and have dark days, but you can’t live there. Let it pass by and be happy for the time we have.

    Another interesting thing is how people react to us. Some people just get it. I love those people, but before this I would never have been one of them. They just seem to understand, know what to say, and offer amazing words of advice and encouragement. Then there are those who have no idea what to say so they don’t say anything. That one is okay with me too. Mama always said, if you can’t say anything nice….. My least favorite is the “but he will grow out of it right? I mean, he will eventually be normal?” NO. He will never be typical. He will not grow out of it. This is who he is and we adore him. We hope you will too because he is too super cute. 🙂

    Community Voices

    Sometimes you have to fight. But not what you’re thinking.

    <p>Sometimes you have to fight. But not what you’re thinking.</p>
    1 person is talking about this
    Chani Gryn

    My Son's Disorder Is the (Smelly) Elephant in the Room

    L1 syndrome, why do you have to be the elephant in the room? I’d be OK with a smallish, furry four-legged creature or even better an insect… like a fly. Remember old school Nokia phones? You know, the ones with the limited ringtone options that everyone had? When we were all out on a Saturday night, the phone would ring and all the people with the Nokias would whip out their phones and say hello. And when you were the one who actually got the call, it was like winning the lottery of coolness! L1 syndrome is like that kind of lottery. Only the person on the end isn’t a buddy waiting to meet up with you; it’s more like the secretary calling from your OBGYN office to remind you of your long overdue pap smear… fun fun! (You’re that chick.) Then, of course, all eyes are on you as you take this call — which by the way everyone can hear no matter how hard to you try to lower the volume or jam that phone as close to your ear as possible. The eyes are watching how you take that lottery phone call. The body language, your tone of voice, all privacy gone, you’re under a social microscope. Pair that with the actual life experience of being a mother to a medically fragile preemie with a rare genetic syndrome no one has heard of. The sounds of a level three NICU with all the beeping monitors and machines, teeny tiny babies in these isolates that I affectionately nicknamed “the BBQ on wheels.” The terms no mother should ever understand: “Brady,” “Shunt,” “Echo,” “NG tube,” “TPN,” “D-STAT,” “EEG,” “GERD,” “CSF,” ABCDEFGHIJKLMNOPQRSTUVWXYZ. Underneath all the wires, stickers, tape and tubing is this small beautiful little baby boy. The strongest fighter I’ve ever had the privilege to meet. Fierce, this-is-the-time, bring-it-all-or-you’re-left-with-nothing, do-or-die world-class fighter. The NICU is not for the faint of heart. It will bring the strong ones to their knees with one swift motion, so quickly you’re not even sure what to do next. Thank God we made it out alive. We took our freedom and ran. We never looked back. We were happy to start living our new lives. L1 syndrome, you’re a smelly elephant! We may not be old in age, but we’re well on our journey. We have therapies… all kinds of therapies. Speech, occupational, physical, MEDEK, swimming, Snoezelen, music, oral motor. We have a complex care team overseeing every detail. A rockstar neurologist, siblings, parents, grandparents, social workers, Rabbis, a community and our own L1 worldwide family. You may be that huge elephant we have to learn to face daily, but you will not rob us of our mission to love our sweet little boy, Levi, for as long as we have him. For all of March, The Mighty is asking its readers the following: If you could write a letter to the disability or disease you (or a loved one) face, what would you say to it? If you’d like to participate, please send a blog post to community@themighty.com. Please  include a photo for the piece, a photo of yourself and 1-2 sentence bio. Want to celebrate the human spirit? Like us on Facebook . And sign up for what we hope will be your favorite thing to read at night .

    Rebecca Roper

    To the Faulty Gene I Gave My Son

    To the Faulty Gene I Gave My Son, Known as L1CAM syndrome, Unlike most genetic disorders, you’re not difficult to spell or pronounce. But you are difficult to understand. It’s difficult to understand that, because of you, my baby has endured three brain surgeries to date and will most likely endure many others. It’s because of you he’s the size of a child half his age. I pray each time he takes a bottle, he won’t throw it up. It’s because of you that we do three hours of therapy per week and despite that, he still can only sit on his own for a few seconds. It’s because of you that we didn’t come home from the hospital to flowers and balloons but went straight to the neurosurgeon’s office to be told his fate. Because of you, we’re not looking into saving for his college fund but instead looking into creating a special needs trust to protect him. It’s difficult for me to understand how one, tiny change on one gene out of all the others, could wreak such havoc on my child’s body and mind. It’s also difficult for me to understand where you came from. When I talk to other moms of boys you’ve chosen, they usually have brothers or uncles who have known you. They could see you coming, though they might not have wanted to look. No one in our family had ever heard of you before, and we know our family history back to Charlemagne. Why did you pick me, I wonder? Why did you have to pick him? But what’s maybe most difficult to understand is that I think, perhaps, in taking a normal life from him — hell, from us all — I think maybe you gave him something. You see, one thing I’ve always known is in our genes is a tendency toward worry. Let’s face it, we’re a family of anxiety-ridden introverts who can fall to pieces over a funny look. (Well, at least we used to be. We’re having a healthy lesson in perspective lately.) But not my baby, not N. Unlike his brother, who was intense and nervous even as an infant, baby N is the most joyful child I’ve ever met. He has a smile that lights up a room and makes even the sour-faced old biddy in the corner glow. But it isn’t just him. I’ve had the privilege of getting to know parents of boys around the world you’ve taken in your grasp, and they aren’t a bitter lot. They’re easygoing, happy children who beam from their wheelchairs and from hospital beds. See, I prayed every night of my pregnancy for a healthy baby. I did it as insurance, like taking my prenatal vitamin. But there was one night, I remember, after a stressful evening, that I went in the shower and turned the water on high so no one could hear, and I prayed, begged God to make my child a happy child, to spare him the family illness of neuroticism. That was the prayer that was answered. So, faulty gene, if you had anything to do with that, then I forgive you. Because I have a child who doesn’t know he’s supposed to feel sorry for himself, who doesn’t worry about his next hospital visit or realize he’s missing out because he’s not crawling or toddling about. I have a child who feels love, and even though he can’t speak, gives love out without reserve. I have a child who loves life, thinks it’s a miraculous journey and is taking the rest of us along for the ride. And for that, I will always be grateful. For all of March, The Mighty is asking its readers the following: If you could write a letter to the disability or disease you (or a loved one) face, what would you say to it? If you’d like to participate, please send a blog post to community@themighty.com. Please  include a photo for the piece, a photo of yourself and 1-2 sentence bio. Want to end the stigma around disability? Like us on Facebook . And sign up for what we hope will be your favorite thing to read at night .