Rubinstein-Taybi Syndrome

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    Vanessa Garcia

    Rubinstein-Taybi Syndrome: What I Want Parents to Know

    For the past several years, I’ve shared various medical facts about Rubinstein-Taybi syndrome (RTS) to raise awareness of this rare condition, especially on World RTS Day (You can read those posts  here  and  here .) While the medical facts are extremely important to know and understand, I’ve also realized sharing our life experiences is equally important, since people will see what life can be really like for individuals with Rubinstein-Taybi syndrome. So this year, I want to go beyond the medical facts. If you’ve followed our blog and Facebook page, you have great insight into our lives and our journey with Rubinstein-Taybi syndrome. For those who are new to our journey or if you’re a parent learning about your child’s diagnosis for the first time, here are just a few things I want you to know about RTS. Rubinstein-Taybi syndrome isn’t terminal, but it is lifelong. Because of the diagnosis, there are challenges our children will face their entire lives with communication, gross motor skills, dexterity, endurance and living independently. But this isn’t something to be pitied. Our children are resilient. They learn to experience their world in ways we might not have ever imagined. It might take them longer to get there, but they do attain skills like walking, running, jumping, climbing and much more. Our children are capable of so much. When I first learned about our diagnosis, words like cancer, developmental delay, musculoskeletal issues jumped off the screen. I immediately began thinking of all the things our son, Braxton, would never get to do. He’d never throw a baseball with his dad, never ride a bike and never play on a playground. But when I joined a Facebook group for families of children with RTS, I found hope. There were families who had children who played baseball, swam, ran and were Special Olympic athletes. I realized that despite what the research said, Braxton had endless opportunities. And look at him now — Braxton played baseball with Miracle League this year, he’s learning to ride his AmTryke tricycle, he loves being in the water and he enjoys swinging with his sister. Our children exude love and happiness. No, not every day is sunshine and rainbows, but most of the time, our sweet kiddo has a smile on his face. Don’t get me wrong, though, Braxton has a temper like no other! I’m willing to overlook that some days when he flashes his big smile and wraps his arms around me for a big bear hug. Braxton knows no strangers. He sees the good in all of us and loves unconditionally. Our son’s medical challenges can be tough and often difficult to handle, especially in the first couple of years when we didn’t have a diagnosis. On top of not knowing what was going on with him, we saw over a dozen specialists, and he had several surgeries and medical procedures. He was hospitalized once for pneumonia, and he was sick constantly with colds, sinus infections and ear infections. But despite these challenges, it does get better! Braxton has been medically stable for the last three years. He’s making great progress, achieving therapy goals and staying healthy. We still have all of our specialists, but our visits are down to annual visits and some doctors have simply said, “He looks great, call us if you need us.” My fears and worries never go away, but they do get quieter. They’re there in the back of my mind, and with every cough, every sniffle and every fall, I wonder if this is going to be the event that turns our world upside down all over again. I hold my breath for a moment, and then I remember to breathe. I can tell you not to worry, but who am I kidding? It’s our parental instinct to worry about our babies. So instead, I’ll tell you that it’s OK to be worried, but don’t let it keep you and your baby from living life. Take chances, hold your breath, but don’t forget to breathe. Follow this journey on Journey Full of Life . Imagine someone Googling how to help you cope with your (or a loved one’s) diagnosis. Write the article you’d want them to find. If you’d like to participate, please check out our  Submit a Story  page for more about our submission guidelines.

    Vanessa Garcia

    I'm Not ‘Jumping on the Bandwagon’ on Rare Disease Day

    Through the years, I have become extremely passionate about raising awareness of things I never knew existed until I was affected. Also through the years, I have been criticized for “jumping on the bandwagon” to simply share a photo, a ribbon or a video. But it’s about so much more than that. Awareness is simply the first step to so much more. Today I share with you the criticisms and why awareness is so needed. My child is more than a diagnosis. While I do tend to agree with this sentiment, I also struggle because I know my child, Braxton, wouldn’t be who he is without the diagnosis. The very things I love the most about him are tied into the diagnosis. Braxton’s heart-melting smile is actually an almost universal characteristic of all children with Rubinstein Taybi syndrome (RTS). I love how he gets excited and his arms and body tense up as he moves his arms up and down or in and out. I love his big eyes and to-die-for long eyelashes. I love how he has taught me to slow down and see the beauty in the unspoken, not to take life for granted and how to love unconditionally. He may not have had these characteristics were it not for RTS. Just because I bring attention to his diagnosis does not mean I am demeaning who he is as a person. I want you to see Braxton for Braxton. I want you to see he is a mischief-makin’, rough-and-tumble 4-year-old little boy. But I also want you to know what RTS can look like because one day you might run into a family who lives in doctor’s offices trying to understand what is going on with their child, but no one knows. It took us two long years to find a diagnosis, but we know people who were diagnosed within hours, days, weeks of birth. If RTS were more known, we would have had an answer right away instead of the loud voice of the neonatologist saying our son wouldn’t live more than a few weeks. That in itself is reason enough for awareness. RTS isn’t a disease. Technically, it is. Disease is defined as “a disorder of structure or function in a human, animal, or plant, especially one that produces specific signs or symptoms or that affects a specific location and is not simply a direct result of physical injury.” RTS can be the result of mutations in the CREBBP or EP300 genes, which are responsible for making proteins that help control the activity of many other genes. (This is extremely simplified.) Therefore, a mutation in one of these genes is a disorder of structure and function. Unfortunately, the issue is not with the definition of disease, but in the connotation, the meaning implied or associated with the word disease. When most people hear the word “disease,” they think of someone who is sick, dying and searching for a cure. If you use the implied definition of disease, then, no, RTS is not a disease. It is a condition or disorder — but guess what, those words are actually synonyms for disease. You’re just looking for pity. No, actually, we’re not. I don’t want you to feel sorry for me, my son or our family. But I do want you to support the cause. We have met professional after professional whose immediate response after I tell them Braxton has Rubinstein Taybi syndrome is “Oh, I’ve never heard of that,” and these are medical professionals — d octors, nurses, anesthesiologists, x-ray technicians. The very people we depend on when Braxton is sick or needs surgery have never heard of his condition. We want the medical community to know who we are and how to meet our needs. I need someone who understands the risks anesthesia brings to Braxton specifically due to his RTS diagnosis. Someone who understands how to read his x-ray while taking in to account underlying bone issues due to his RTS diagnosis. Someone who doesn’t mistake his silence as rudeness. Awareness is extremely important in receiving proper medical care, services and insurance coverage. Your time could be better spent. Yes, I have actually been told I am wasting my time raising awareness, sharing a ribbon and creating a video. That I should be thinking of ways to actually help people, to understand why our children are affected the way they are, to see what needs are not being met through currently available services. Yes, these are all very worthy and need our attention as well, but that costs money. To fund research, to poll focus groups, to help introduce new disability legislation — that all requires financial backing. And do you know how hard it is to fund something people have never heard of? I do. In the work I’ve done with the nonprofit, U.R. Our Hope, which helps families of children with undiagnosed and rare diseases, I have seen firsthand how difficult it is to garner support for an issue that is widely unknown. But in the last three years, our events have grown, and our reach is spreading. The more awareness we’ve raised, the more money has also come with that awareness. Money that can be used to help families or fund research or fund the creation of an undiagnosed national database to help patients get a diagnosis faster. Awareness is just the first step in making a difference. Awareness without action is pointless. This I do agree with, which is why awareness, for me, isn’t limited to any one specific day. I always try to encourage action. Action can be as simple as taking a few minutes to research a new diagnosis or as elaborate as hosting a fundraising event to address a specific need for a rare disease community. Sharing a ribbon or changing your profile picture is not enough. You need to get out and do something. Teach someone about what you have learned. Raise or donate money to a specific cause. Meet someone with a rare disease and learn about what they like and don’t like. Learn who they are as a person. Play a game with them. You will surely find more common ground than you think. Meet some of our RTS brothers and sisters in our Facebook album. Learn more about Rubinstein-Taybi syndrome at www.rubinstein-taybi.org. Donate to the Special Friends Foundation, which is dedicated to helping individuals with RTS. Follow this journey on Journey Full of Life. The Mighty is asking the following: What’s one thing people might not know about your experience with disability, disease or mental illness, and what would you say to teach them? 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. Check out our Submit a Story page for more about our submission guidelines.

    Vanessa Garcia

    When a Nonverbal Child Can’t Tell You Where It Hurts

    My son, Braxton, fell yesterday. I didn’t see how it happened. It’s not the first time he’s fallen, and I didn’t see it. But this time it was different. Only I didn’t know it. Today, I got a call from the school nurse. Nurse: “Have you seen Braxton’s foot?” Me: Panic sets in. “His foot? Um, no? Why?” Nurse: “He hasn’t been wanting to walk today.” Me: “Oh yeah, I told his teacher that. He’s had a sinus infection, and we think his balance is off. He’s been a bit wobblier than usual.” Nurse: “No, I think something is wrong. His foot is swollen. He won’t bear weight, and he cries when we try to move it.” Mommy guilt immediately sets in. How did I not notice? He had therapy this morning, but none of us noticed. How in the world did this happen? Oh, right, Braxton fell yesterday. I didn’t see how it happened. He fell, and I heard a thud followed by a cry. I jumped up from the couch to check on him. He was sprawled on the floor with his head against the wall. I thought he hit his head. I checked for bumps and bruises. I checked his eyes. No vomiting or loss of consciousness. We’re good. But I didn’t check his foot. I didn’t even think to check. He had no words to tell me to do so. This morning he had therapy. He didn’t want to climb the stairs. In fact, he stiffened his leg and planted his feet. We thought he was just being stubborn as he often does. In hindsight, I remember thinking he has sure been crawling around more than usual. I remember realizing his balance was off more than usual. I remember seeing him drag his foot as he walked. I saw it but didn’t piece it together. I should have noticed. What kind of mother doesn’t notice? The kind of mother with a child who cannot express hurt and pain. I believe this is the hardest part of having a nonverbal child. The part where your child’s pain tolerance is so high he doesn’t flinch when the doctor tries to see where it hurts. The part where they end up taking 10 X-rays to check out the whole leg because he can’t tell us what part hurts. The part where I feel helpless. The part where I feel like I failed my child. The part where the doctor says, “Well, we didn’t find anything. Just keep him off of the foot.” The part where I can see there is something more, but he can’t tell me and the doctors. Of all the things I wish for my child, the one I wish for something fierce is a voice. Words to tell me when he hurts. Words to tell me when something is wrong. He’s not proficient with his talker yet, so that can only help so much. Days like today are frustrating. I wish I could say I’m glad it wasn’t worse, but what if it is and we missed it? Braxton is clearly in pain when he tries to walk. His foot turns outward, and he kind of drags it behind him. But the doctor says nothing is wrong. All they saw on the X-ray is a hip issue we knew about where the hip joint didn’t fully form. Is that why he is limping now? Did the fall somehow exacerbate that? I don’t know. The doc thinks so but can’t say for sure. I wish Braxton could tell me. I wish I could make it better like a mom is supposed to. This is the only part of my son’s condition I regularly wish away. Follow this journey on Journey Full of Life. The Mighty is asking the following: What’s one thing people might not know about your experience with disability and/or disease, and what would you say to teach them? 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. Check out our Share Your Story page for more about our submission guidelines.

    Vanessa Garcia

    When People Ask If My Child Will Ever Speak

    When my son, Braxton, first got his G-tube at 2 weeks old, the first question I was inevitably asked after explaining his tube to family, friends and strangers was, “So will he ever be able to eat by mouth?” For the longest time, my response was, “I don’t know,” and we genuinely didn’t know. Once we started working with a speech therapist and making progress, “I don’t know” turned into “Yeah, more than likely he will be able to eat like you and me, but he’s still learning.” Nearly three years later, you would never know there was a time he couldn’t eat. He still uses his tube for liquids, but he eats all of his meals by mouth. He still only eats purees, and we continue to work towards table food, but he is eating. Our journey to communication has been similarly riddled with questions and uncertainty. When we learned of his hearing loss, we quickly began learning sign language. Family and friends asked, “Do we need to learn sign language, too?” I didn’t know. Braxton didn’t pick up sign language as quickly as we had hoped, and it seemed almost pointless to make our family learn, too. Instead, we encouraged them to continue speaking to Braxton just as they would any other child. That constant exposure to language was still just as critical. We hoped for verbal language but were never sure if it would come. When we finally received the diagnosis of Rubinstein-Taybi syndrome (RTS), we learned from other families that many of the children are nonverbal and use sign language or a communication device to speak. There are many who have at least some words, and a few who are quite verbal. Where would Braxton fall on that spectrum? I don’t know. By that time, we had already started on the path to high-tech Augmentative and Alternative Communication (AAC), and the diagnosis confirmed this was the path we needed to pursue, always holding onto the hope of verbal speech. We saw little progress at first, but we saw enough to keep hope alive and to continue this path. My dream for him has always been (and will always be) verbal speech, but the goal is communication. Communication using whatever means necessary. Since we’ve been using Speak for Yourself, a communication app on the iPad, quite heavily in the past year, the inevitable question has been, “So will he ever speak?” I don’t know. I don’t know if he’ll ever speak. I don’t know if we’ll ever hear his precious little voice. I don’t know if I will ever have the chance to tell him to stop talking. (But I don’t know if I would ever want to say that after waiting so long to hear him.) I don’t know what the future holds. We simply hope for the best. Here’s what I do know… I know that by pursuing AAC we’re giving him a way to communicate with us now. I know AAC is giving him the best chance to succeed. I know exactly when he wants hugs and kisses, because now he can tell me with his talker. Follow this journey on Journey Full of Life. The Mighty is asking the following: What’s one thing people might not know about your experience with disability and/or disease, and what would you say to teach them? 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. Check out our Share Your Story page for more about our submission guidelines.

    Vanessa Garcia

    What I Hate Most About My Son's Rare Condition

    Here is our love/hate ode to Rubinstein-Taybi syndrome a la “ 10 Things I Hate About You“ (I might have read too many Buzzfeed nostalgia pieces recently). To my child’s rare diagnosis: I hate that no one’s ever heard of you and that you’ll always be around. I hate the way that blue tag in my car hangs down. I hate the way you make others stare. I hate when my child hurts, and I can’t read his mind. I hate that so much it makes me sick; it even makes me rhyme. I hate the ways he’ll always be delayed. I hate it when you make me cry. I hate that you stole my child’s voice — even worse that I have to fight to get him a device. I hate it when his basic needs aren’t met and the fact that my answer to all developmental questions is “not yet.” Mostly, I hate the way I don’t hate you. Not even close… Not even a little bit… Not even at all. You see, you’ve made me change my perspective. I see there’s so much life to be lived. The smile we’ve come to love is one of your many hallmark traits, and that infectious laugh warms the hearts and souls of all acquaintances he makes. I appreciate the way you make me take a closer look and celebrate the inchstones not found in any baby book. We say that you don’t define him, but the him we know and love? Well, without you that him, he would not have become. We’ve made peace with your existence, and we know this path will be met with resistance. Armed with faith, hope and love this, too, we shall overcome. They told us not to expect much, but they didn’t know his spirit. The nevers became maybes, the maybes became soon, the soon became now, and now we know he has no limit. We have the courage to dream again without fear of the unknown because now we have a community of support, and my how it’s grown! We have people in our life we might not otherwise have known had we not started on this journey feeling so alone. Every challenge faced has made us stronger, and now it’s more clear than ever: a hold you have on us is no longer. Follow this journey on Journey Full of Life. 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 .