Cornelia de Lange Syndrome

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    Hi, my name is Plurbaybee. I'm here because I have a rare disease called Wildervank Syndrome, I am also the parent of a child with a rare disease called Cornelia de Lange syndrome. His nickname on social media is Warrior Bee. We are here to raise awareness, to spread joy, and help people grow in their understanding of rare disease.
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    Any suggestions on how to adapt a ukulele for this guy to hold/play?

    <p>Any suggestions on how to adapt a ukulele for this guy to hold/play?</p>
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    Jessica Boyko

    Maintaining Hope Amid My Son's Cornelia de Lange Syndrome Diagnosis

    My high-risk pregnancy started when I was 11 weeks pregnant. We went for our first maternal fetal medicine (MFM) scan and were diagnosed with a condition called Hydrops fetalis, a condition in which the fetus is characterized by an accumulation of fluid, or edema, in at least two fetal compartments. Our fetus had fluid in both chambers of his lungs, as well as facial edema. The hydrops worsened as the weeks went on which left our son with only a 1% chance of survival, because they feared the fluid would compress his heart and force it to quit beating. They begged me for weeks to terminate, but I refused. More than I would like to admit, I was told: “He is very sick. He won’t be happy and will not have a good quality of life. Termination should be strongly considered.” I continued getting weekly MFM scans along with one dose of steroid injections to help assist his lung growth. I was heavily monitored for Mirror syndrome, which wasn’t only fatal to my unborn son, but myself as well. I didn’t ever go a day without having hope. On April 18 we went for our normal weekly MFM scan, and were not expecting to leave hearing the words, “His Hydrops has resolved and we have no answer for that, but he is 38 weeks and has had a plateau in growth for a few weeks now. He is healthy and we don’t want to put anymore risk into the situation. You are scheduled tomorrow for a C-section.” The next day before going into surgery, I received the normal prepping for mothers who are going into C-sections, but I also met 25 health professionals who were going to be in the operating room with us too. They were the people myself and my husband gave 100% power to do anything they possibly could when it came to resuscitation and saving our unborn son’s life. We were told to expect the worst. We were told that there was a 50% chance of stillbirth. As my husband left to go scrub in, I was handed a paper to sign. The paper stated that I understood how complicated the situation was and that I would not legally pursue anything if something were to happen to myself, or my son during the surgery. After I signed the paper, I was given a spinal and froze from the neck down. It was at that point where I was powerless. I had to wear ear plugs to focus on my breathing and to help keep my blood pressure down. All I had to do at that moment was pray. Our sweet Preston arrived on April 19, 2018, weighing in at 5 pounds, 2 ounces and 17.4 inches long. I heard a cry, which you think would leave any mother relieved, but not me. I was still worried. Around 20 to 25 people rushed to the trauma room that was attached to the OR with Preston. My husband knew he was not supposed to leave our son’s side. No matter what were to happen to me, he was supposed to stay with Preston. They began to stitch me back up. Although I am sure it was minutes, it felt like hours went by with no update on how Preston was. All I kept asking was, “Is my baby OK? Is Mike still with the baby? Why has no one come to update me yet?” My husband eventually came in and told me that he was fine. He was breathing 100% on his own and they were about to head to the NICU. After about an hour in recovery, they wheeled my bed in so I could go see Preston for the first time. I was only allowed five minutes before I had to be in my room as social workers, doctors, geneticists and therapists were going to come talk to me. It was enough time for me to hold my son for the first time and take a quick picture. The next time I would see Preston would be about four hours later. Our three week NICU stay was full of consults, tests, meetings and scans. We learned Preston was healthy, in and out. Everything came back “normal” or “negative.” Doctors were scratching their heads because in womb, Preston was not healthy. He had 1% to 50% chance of survival due to the fluid that compressed against his lungs, since he was 11 weeks gestation. They kept forcing test after test trying to find something to give them answers. It was starting to feel like he was a science experiment. The first two weeks, no one but myself and my husband were allowed to see Preston due to isolation. Our 2 year-old-daughter wasn’t even allowed to come meet her new little brother. But the day I remember the most during our NICU days, a day that I will probably remember until the last of my days, was our last consult with genetics. It was our last bump we had to pass before getting discharged and being able to go home as a new family of four. Mike, myself, our social worker and her student, our NICU pediatrician and our geneticist walked into this tiny room with two leather chairs, four other chairs they had brought in from the waiting room and a small box of Kleenex on a wooden circle table. Then they closed closed the door. I thought to myself, “These are the tiny rooms they bring people into to tell them something bad.” I was extremely nervous and I sat down in one of the black leather chairs. Everyone looked at me and asked if I was ready, and that’s when I released every emotion I think I had built up inside from my pregnancy until that very moment. My husband grabbed my hand and our social worker asked me what was wrong and I replied, “I am scared you are all going to tell me that my son is going to die.” After a short moment, the pediatrician smiled at me and replied, “Jessica, your son is healthy and has shown us great things since being born. He isn’t dying. He is a miracle.” Our geneticist continued to tell us about how she suspected Preston to have a genetic condition called Cornelia de Lange syndrome. We had never heard of this syndrome before and didn’t have any answers to any of our questions, which was why we decided to send Preston’s blood to Sweden for further genetic testing. Two days later we were discharged and about four and a half months later we got the results — Preston has a “heterozygous NIPBL variant of uncertain significance gene mutation.” To our knowledge, Preston is the only one recorded worldwide (so far) with the change in the region of Exon 31. It is estimated that 1 in 10,000 kids are diagnosed with Cornelia de Lange syndrome. It affects males and females equally and is seen in all races. The severity of CdLS ranges from mild to severe, but those with it share similar characteristics such as small stature, hands, feet and head; joined eyebrows, long eyelashes, an upturned nose and thin, downturned lips. In 99% of cases, the gene change is sporadic, not inherited, which means that change occurs randomly during conception. Many people with CdLS have limb differences or uniqueness of hands. They all have a full head of hair, which naturally grows in a faux hawk. Preston has mild physical features of the syndrome. He does have a few challenges such as mild hearing impairment, nearsightedness, partial joining of his first and second toes, gastroesophageal reflux, and feeding problems. He is also developmentally delayed in certain things, but excels in some other age appropriate areas. He is fed with an NG Tube (a feeding tube inserted through the nose) until my coordination improves and he is able to take in enough daily calories. Since Preston was born he has seen a lot of doctors and specialists and spends most of his time at clinics, hospitals and therapy sessions to help make his dreams become reality! Unfortunately because of his disability, there have been many times when people (family, friends and strangers) have looked at him differently or have treated him differently. They see his feeding tube and assume something is “wrong” with him or he’s “unhealthy.”‘ They see his size and hear that he is almost 2 years old, and they look at us like we’re making a mistake and continue to avoid us like the plague. There are even a select few who mistreat Preston in ways they would never to our daughter, such as not caring to check in, missing out or even lying about why they can’t come to milestone celebrations. To us parents, it makes us feel like Preston isn’t good enough or he isn’t good enough to be loved from others. We knew having kids would help us find out who our true friends and family are, but we never knew having a child with a disability would show us who the real ones are. The stigma is out there and it’s very sad to personally experience. Preston has taught us many things but especially that inclusion matters, patience, seeing things differently matter and having gratitude daily matters.

    Anne D.
    Anne D. @anne-d
    contributor

    Cornelia de Lange Syndrome: Advice for New Parents

    Following my daughter Hannah’s birth, I was strongly advised by a doctor not to Google anything. Hannah had a plethora of medical issues, and there was speculation they were linked to a syndrome. Frustratingly, no other information was forthcoming – aside from the usual stuff we parents of children with additional needs often hear, such as “your child may not walk, talk, hear, see,” etc. So what did I do? I completely ignored the “advice” and I Googled. Of course I did; who wouldn’t? In fact, I Googled until my eyes went all fuzzy. I typed in every single medical word that’d been said to me over the previous few weeks (and, believe me, there were a lot!) and three distinctive rare genetic syndromes kept coming up time and time again. Then, when I looked on Google images, I could clearly see Hannah’s developing features in the faces of some of the other children… especially children with one particular syndrome. It didn’t take a rocket scientist to know that this was, most likely, going to be Hannah’s diagnosis. …and that scared me. So when I sat in the office of the Genetics Department and the Professor confirmed Hannah’s diagnosis of Cornelia de Lange syndrome — the words I didn’t want to hear — the room closed in on me. I thought I’d never breathe out again, and that I’d most certainly never smile or laugh again. Even though, for me, it was important that Hannah received a diagnosis, it was physically and emotionally painful to hear. It was completely overwhelming and it felt like both our lives – now so inextricably linked – were over. It felt as if we were destined for a life full of cold grey skies, without any sunshine. I can categorically say that was one of the worst days of my life, and the memory of it is still very vivid over six years on. All those web pages that I’d pored over seemed to paint a pretty scary picture, and didn’t give me any glimmer of hope for the future. I really needed something, anything to hang onto. I didn’t particularly want to read about the gloomy, scary stuff, but I wanted to read the facts. I’m from the forewarned is forearmed school of life. I also wanted to read about what I could do and what, perhaps, not to do. What to look out for. What therapies or diets might be beneficial. I wanted anything and everything. I also wanted some encouragement and optimism. I didn’t just want to read medical research, I wanted to read about life and maybe, a little bit of hope. Perhaps I just wasn’t looking in the right place. Two years ago, once our world had settled down a little and I felt ready to write, I set up my own blog.  I use it to chart Hannah’s journey, as catharsis for me and hopefully helping to reignite my sense of humor, but the core purpose is to try and give families that tiny glimmer of hope – something that I’d so desperately needed but didn’t find. So if your child has recently received a diagnosis just like Hannah’s, please hang on to this: Life may get pretty rocky and test you to your limits. You may have some overwhelmingly challenging times ahead where you’ll shed so many tears, you feel you’ll never get out of the darkness. You might feel like you can’t go on anymore – but if you can manage to change direction from the life you anticipated you’d have, ditch all those aspirations you had before your child was born, and buckle up for the ride of your life, you will get through it. Sure, you’ll have bad days — that’s natural, that’s life! — but you’ll hopefully become stronger than you ever imagined. You’ll be thrown into a whole new world that opens up different opportunities and experiences. You will breathe and smile and laugh again. You will have fun. You can have a beautiful and enriching life with your child — you just need to look at life from a different perspective. And remember, you’re not alone. There’s lots of us out here on our own journey, who have an understanding of what you’re probably going through. Don’t ever be ashamed of asking for help, don’t be scared of expressing how hard this journey is, and don’t hesitate to reach out if you’re feeling lonely. I promise we’ll catch you. Follow Hannah’s story on My Kid Loves Broccoli. The Mighty is asking the following: Write the article you wish you’d found the first time you Googled your or a loved one’s diagnosis. Check out our Submit a Story page for more about our submission guidelines.

    His Response to Those Who Made Him Feel Like a Victim to His Condition

    In a Facebook post from photographer Brandon Stanton’s wildly popular “Humans of New York” photo series, a man opened up about his Agenesis of the corpus callosum, a condition in which the structure that connects the two hemispheres of the brain is, in his case, absent. –> “I have Agenesis of the Corpus Callosum. Most people have nerve bundles that connect the two hemispheres of the brain. …Posted by Humans of New York on Thursday, July 2, 2015   The post reads: I have Agenesis of the Corpus Callosum. Most people have nerve bundles that connect the two hemispheres of the brain. I don’t have those. But I don’t like to talk about it. Because when people know there is something wrong with your brain, they think you’re retarded. I had a hard time growing up. I’ve been labeled all my life. I’ve always been told that I’m learning disabled and I can’t do this and I’m not good enough to do that. And it’s hard to hear that stuff all the time without viewing yourself as a permanent victim and learning to be helpless. I’m not a victim. I have a part-time job, nice friends, and my own apartment. All I need now is a full time job and a PlayStation 4. His answer in itself is great, as were commenters’ reactions — in an internet world that tends to be full of negativity and trolls, the responses to this post (and the number of PlayStation offers) truly blew us away. Here are just a few of our favorites: “Bro, both of my hemispheres are connected and I’m half the man you are.“ “My 12-year-old brother has this. I have never heard of anyone else having it. I am so excited to show him this so he knows he too can have a comfortable life.“ “It’s so lovely to hear stories from adults with ACC; my youngest son has the condition and the future feels uncertain at times. Thank you for sharing this man’s story. I hope he sees how much it means to me to read it.“ “With that attitude he should have no problem finding a full-time job. I wish I had that positive spirit all the time.“ “I have Agenesis of the Corpus Callosum as well as several other disorders. I’m rocking life as a single mom despite my disability… I may be missing part of my brain, but I have a FULL life.“ It’s nice to be reminded that 1) hardworking people like this man exist and 2) the Internet is capable of kindness. Spread the Word to End the Word! You can head here to pledge to stop using the R-word. It’s a step toward creating more accepting attitudes and communities for all people.

    Virginia Speer

    Why We Weighed Our Baby in Grams During Her First 18 Months

    When you’re pregnant, you have amazing dreams about your roly-poly baby with cute baby fat rolls and chubby cheeks. But when reality sets in, those dreams change. Bella was born tiny. In fact, she was one of the smallest babies on the neonatal intensive care unit floor. When you’re in the NICU and have a baby who is growing unbelievably slowly, ounces can seem like mountains. So you hope for grams. That was the unit of measurement we used to weigh Bella during the first 18 months of her life. A gram is about the weight of a paper clip. We were ecstatic when Bella gained 10 grams in a week, while other parents got upset if their baby didn’t gain a pound in a month. Trips to the pediatrician were uncomfortable and odd. Other moms sitting there got upset because they thought their 3-month-old babies seemed small at 12 pounds. They would me ask how many weeks my baby was. I told them Bella was 9 months old and weighed 6 pounds. The looks I would get made me laugh. You know you’re in a very special group when you need to continue to weigh your baby in grams after you leave the NICU. There aren’t many of us. Most people use ounces and pounds before they leave the NICU. Staying in grams doesn’t mean anything bad, it just means you get to keep that little baby a bit longer. No one should feel singled out for it. When we decided at 18 months to start using ounces and pounds to weigh Bella, it seemed weird. Learning to convert became a new skill for us. Bella has reached a point now where until she fluctuates within a few ounces most of the time. This is fine with us and her doctors. She is healthy and proportional for her size, so everyone is happy. A version of this post originally appeared on Our Tiny Fighter. The Mighty wants to hear more about relationships and special needs parenting. Can you share a moment on your special needs journey that strengthened your relationship? 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 .

    Virginia Speer

    Cornelia de Lange Syndrome: When People Say 'I'm So Sorry'

    This post is meant to give the bare-bones raw truth for what myself and my husband, as well many other parents to differently-abled children, think and feel. I hope everyone can understand. When we go out in public with a child with special needs, we meet many people. Seven out of 10 will address us with something like, “Oh she is so cute,” “How adorable,” or “She’s doing so well and looks great.” These people are polite and tend to show a genuine concern. Two out of 10 people are the rude and disrespectful ones. Their comments go more like, “What is it?” “What’s wrong with it?” or even “Why did you have it?” These are the ones we can completely do without. We’ve learned to just say, “God bless” and walk away. The last type of person is the “I’m sorry” person — the one who walks up to ask how old our baby is and then immediately says, “Oh, I’m so sorry.” This is the comment that actually still hurts. These people feel sorry for us; they pity us. Why? Telling me you’re sorry is like a slap in the face. You’re sorry because I was given a gift, a special loving baby who I got to keep after I begged God to let us keep her. You’re sorry because she doesn’t have 10 fingers or two whole arms. But technology today can make bio arms better than anything we’ve ever seen. You say sorry because she’s small, but we get a ton of use out of clothes, and we get to keep our baby smaller longer, like every one always wants. You say sorry because you assume she’s sickly and dying. News flash! Not every human who looks different is terminal. Yes, you don’t know our story, but it hurts when someone assumes we’re burdened with this sick kid, that we cant enjoy life because of our baby. We love her! We don’t see her as a burden; she’s a joy to have. We go places and do things with her and have the time of our lives dong it. She’s a happy, healthy little girl who you choose to mourn when she’s sitting right in front of you. When we first began hearing “I’m sorry,” we’d smile and say thank you and then move on, but after so many times, you realize you cant just let it go. Saying, “No, don’t tell me you’re sorry. She’s happy, healthy and growing,” has become a first reaction. Sometimes I’ll even ask a person, “Why?” to see what their response is. Normally, they stumble or even come right out and say, “Well you daughter is like that, and it must be so hard.” I always tell them, “No harder than it is for your kids.” My daughter is a kid. No child is perfect. Every baby and child has flaws — colic, purple crying, not wanting to sleep, mood swings, not wanting to eat, wanting to eat too much, acting out, having social delays, etc. So why should my daughter be looked at differently than anyone else’s child just because she is unique? I know people will always look at her differently because of her arms and size, but why look at her with pity and sadness? How would you feel if someone walked up to you in public, put their hand on you shoulder and said “Oh, I’m so sorry.” You’d be left feeling lost and wondering, “Why? Was it something I said? Is it something I’m wearing? Did someone tell them something about me?” That’s how we feel when this happens. You assume something about my daughter before you even know her name. So please, the next time you see a unique, special, differently abled, atypical, exceptional, adorable, unconventional and original baby, child or adult, do not say you’re sorry. Ask a question if you want to know something, but don’t assume their life is unfulfilled. You don’t know them. Thank you. This post originally appeared on Our Tiny Fighter. Sign up for what we hope will be your favorite thing to read at night .

    Rachel Wardrip

    What My Daughter’s Disorder Should Know About Her Biggest Cheerleaders

    Dear Cornelia de Lange Syndrome, I will never forget the day we first met. Before September 5, 2014, I never even knew that you existed… that is, until you made your presence known within my sweet, new baby girl. You chose her. And you know what? I’m glad you did. You see, when you chose my beautiful Maya, you failed to evaluate the entire scenario before jumping into her. You completely underestimated me as her mama. You had no idea that I would run to the ends of the earth for my girl if that is what she needs. You had no clue the immense love I have for her which empowers me daily to fuel Maya into being the best that she can be. Maybe you thought I wouldn’t be able to handle what you had in store for her? Well let it be known that I can and I will always be there, cheering her on and holding her hand, as long as I believe that God grants me breath. You did not meet her daddy first, who loves his girls more than life itself. So each and every day, our Maya is covered in love, kisses and hugs, and wrapped in the strongest arms possible. You failed to get to know the immediate circle of people Maya has in her life. You must have not known how much they would love her and treat her as their very own daughter, ensuring her the best physicians and therapists to learn more about you each and every day that they can. You should never mess with a big sis, either — I know that from personal experience. Instead, her big sis, Mallory, has become her mother hen and will set anyone straight that may make fun of any characteristics you gave my Maya. But better than that? You chose a little girl with a big sis who talks to God quite often. Our Maya is showered in prayers constantly, especially from her Mallory. I must thank you. Growing up, I always wanted to be a nurse. Although I have no degree to adorn my walls, you have enabled me to become one for my Maya. You have given me the opportunity to be a self-taught, full-time nurse, speech therapist, OT, PT, nutritionist and a stay-at-home mommy for her first seven months of her life. So thank you. You’ve given me the opportunity to become more than I ever thought I could be. It wasn’t always this easy to say thank you to you. The constant fear and worry you introduced me to felt so unfair. The amount of sleepless nights that I experienced in the last seven months have most certainly taken their toll. And those still continue as I lie awake wondering about her future and all of the unknowns. I have constant fears about Cornelia de Lange restricting children’s abilities to learn, eat and speak. Some children don’t have children’s fingers, hands and arms because of Cornelia de Lange syndrome. That did not happen to Maya, but Maya does need help feeding and controlling her GERD. But remember when I said I’d do anything for her? I did. And thankfully, she’s grown so much and done so well since her G tube was placed. I still find my heart aching every day for her. I still cry enough to create an ocean. But I’m comforted in believing that God is bottling my every tear. But I actually owe you a tremendous thanks on behalf of all the mamas with little ones whom you’ve touched. I truly believe that special children will always have a place in the Kingdom of God. So I believe that means no worries for us mamas and that they will be in Heaven some day! You almost broke my heart, Cornelia de Lange syndrome. But… you’re just not strong enough. 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.

    Anne D.
    Anne D. @anne-d
    contributor

    Cornelia de Lange Syndrome: Mother's Letter to Child's Rare Disorder

    In “The Godfather: Part II,” Michael Corleone shares some wise words gleaned from his father: “Keep your friends close but your enemies closer.” Well, I’m keeping you closer. Closer than I’ve ever kept anything before. I’d never even heard of you, Cornelia de Lange syndrome, until five years ago when my daughter, Hannah, (and you) came into our lives. Ever since then, each and every day I’ve been keeping a close eye on you. I’ve probably read everything there is to know about you right now and, as a result, have been able to educate the professionals involved in Hannah’s care and put things in place to elude some facets of your persona that I can suppress – like ensuring she has a healthy, well-balanced diet. Sure, you’d thrive off junk food, but you ain’t getting it here at Broccoli HQ! As long as I breathe, I’ll never, ever forgive what you’ve done (and are doing) to my baby. You weren’t invited to the party, but you gate-crashed… and it looks like you’re here to stay. I want to make it clear to you that you’re not welcome and never will be. But while you crushed my aspirations, completely turned our lives upside down and almost broke my heart, you’ll never beat us. You’ll never have the upper hand. Because you’ve made me stronger than I ever imagined I could be. Initially, you tortured me and kicked me around until I felt I could take no more. Then, when I managed to come up for air, I got right back up and stared you in the face. Because this special needs mama never goes down in a fight. Not when it involves my baby girl. Once I’d afforded myself the time to grieve for the life I assumed we’d have, I now realize you didn’t ruin our lives at all. Bizarrely, you enriched them. I have a child. A beautiful, quirky, scrumptious kid who makes my heart melt every single day. A child who I never thought I’d be blessed to take care of. She is my love, my world. She completes me. I’ve seen this kid in her five years of life being put through stuff no one should ever have to go through. She’s been given so many labels: Cornelia de Lange syndrome, global developmental delay, hearing difficulties, no speech and extremely limited communication skills, a heart defect, a cleft palate, skeletal “abnormalities,” sensory processing disorder, autistic traits, self-harming behaviors – the list is endless. I won’t allow any of them to define her, because she’s a kid. In our world, kids are kids, regardless of whether they have a disability. While you affect Hannah in so many ways, you’ll never be able to take away her sense of humor. Sure, you stop her from speaking or sometimes communicating effectively enough to tell us how she’s feeling or what she wants, but boy, she’s funny. So funny. She has the potential to leave a trail of chaos wherever she goes. She’s defiant and a little bit naughty sometimes too. She sticks her finger up her nose when she’s tired, she blows raspberries and laughs when she farts… like kids do. Hannah has a zest for life that I’ve never seen in any other person. She’s fearless. She throws herself into every new experience with an enthusiasm that astounds me. She’s unforgettable – she doesn’t blend into the background – she makes her presence known. And wow, even though I’m her mama, I can’t help but mention that she’s so cute! It’s evidently clear that you’re not defeating her. For now, anyway. Five years ago, you threw us into a strange new world — a world that was initially pretty scary, without any blue sky. But it’s a world that moves at a much slower pace, one that allows me to notice all those little developments in Hannah that I may have just taken for granted otherwise. Through you, I’ve met some wonderful, beautiful, awe inspiring children — children who in their short lives have experienced far more than anyone should ever have to endure and, as a result, I’ve met (and become friends with) a whole load of other parents in a similar position as me. They made me realize I’m not alone. You helped me realize what actually matters in life. You helped me prioritize. Our lives may be affected by extra conundrums – more so than the average parent – and there’ll be days that will be challenging and stressful and downright frustrating, I realize now this world can be magical and beautiful at times. This world, our world, does have sunshine and blue skies. Sure, if I could find a cure that’d eradicate you, I’d do it in a heartbeat. I want the best for my baby. I want her to be happy and healthy. But as she grows older and transitions into adulthood, “happy and healthy” isn’t going to be enough; she has to be able to survive too. She has to be able to protect herself, and right now that’s something she can’t do. Right now, that’s my job. We’re on a journey, and who knows where it’ll take us. No one can predict it. But like the musician Edwyn Collins rightly said following his cerebral hemorrhage, “The possibilities are endless.” And I’ll continue to seek out opportunities that’ll enrich her life. Hannah’s path may not be an easy one, but hopefully she’ll have me to hold her hand along at least some of the way. And between us, we make a formidable team! 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.

    Virginia Speer

    What I Wish I'd Known When My Baby Was Born the Size of My Hand

    If I had the opportunity to turn back time, to give myself hope when I didn’t think there was any left, I’d do it in the blink of an eye. I’d stop the clock right before the doctors took away our tiny, different bundle and tell myself she’s OK. Yes, she’s small for 32 weeks — 1 pound, 12 ounces is unreal for that age — but she’s breathing on her own, and even though you can’t hear her, she’s crying. I would hug myself and keep saying, “Just a bump in the road.” But mostly I’d sit down with myself and have a talk about her syndrome. Cornelia de Lange syndrome. Yes, it’s rare, and yes, there are many stories we’ve found and pictures that tell sad and difficult stories. That doesn’t have to be us. We know she can’t hear us, but she looks at us, and she snuggles when we hold her close. I would tell myself, “Don’t take for granted when she eats. G-Tube surgery at 9 months for a 5-pound baby is terrifying, but we make it through. Hearing aides and a prosthetic arm will give her opportunities to do more. Don’t let doctors and other parents get in your head; she will do everything you help and push her to do. She will love you no matter what. She doesn’t feel that her being different is your fault. She’s just a happy baby. You will learn to celebrate milestones other parents take for granted –sitting up alone, lifting her head during tummy time, even every small sound she makes. Your normal will never be the same, and so many people will not understand. But that little one will be your whole world.” I’d make sure I understood that my daughter being born early, severely small with arm anomalies, deaf, and with a rare genetic syndrome was not a punishment. It’s an amazing adventure with a one-of-kind handmade personal angel. I’d let myself know that things can change and doctors aren’t always correct. A determined little girl will do whatever she wants, regardless of what people say she can’t do. She’s still tiny — 18 months old and only 9 pounds — but she’s sitting up alone, trying to stand alone, taking steps with help, babbling like crazy. She has improved hearing in one ear. I would want myself to know that a diagnosis is just words — words that don’t and will not define who my daughter is and will be. For all of January, The Mighty is asking its readers this question: 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 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 .