Trisomy 5q

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    My Child Has Trisomy 5q. This Is What It Means to Be Rare.

    February 29 is Rare Disease Day. February is also Congenital Heart Defect Awareness Month. And the month of Feeding Tube Awareness Week. My child is part of all three. • 80 percent of rare diseases are genetic in origin. • 50 percent of the people affected by rare diseases are children.• 30 percent of children with rare disease will not live to see their 5th birthday. My daughter Naylah’s rare disease is trisomy 5q. Naylah has a heart defect. And global developmental delay. She uses a feeding tube due to “failure to thrive,” poor weight gain, reflux, silent aspiration, coordination issues — not because she is a picky eater. Often we are asked why her tube is there if she can eat some food orally. Truth is, if it wasn’t for her feeding, she wouldn’t be thriving. She has a chronic ear infection and strabismus and microcephaly and experiences slow growth/weight gain. Naylah is rare. Her rare journey started when a cardiologist thought she had more than heart issues; at about 5 months old she got diagnosed with trisomy 5q. That day our rare journey began.That day an uncertain path started for us; fears took over — fears of the unknown. It started with therapies and early childhood intervention and countless doctors to see. Naylah will be 4 years old in May; she’s gone through 11 anesthesia and nine surgeries.I wish I could say we are done, but we are far from it. This is rare; this is our lives. If we’re not at the doctors, we’re in therapy. We live in a routine. She’s finding comfort in the medical world. When at the doctors office, she will go to her nurses and doctors for a hug or to get entertained by them. When in the hospital for a procedure, she plays with the nurses and happily waves goodbye before they take her away from me. This is trust. This is her knowing we are always doing what’s best for her. I’ve had the privilege to hold her twice, while she fell asleep for anesthesia. My heart broke into pieces while holding that small human being grasping for air, looking me straight in the eye. I smiled and sung to her until she fell asleep. I’ve held her hands in a hospital bed when I couldn’t hold her in my arms. I’ve waited for hours while they did a heart cauterization. I’ve seen her heart beat at 250 while she still happily clapped her hands, leaving her doctors’ mouths wide open. Her little body is marked by surgery scars, and I am reminded daily of what she has gone through at such a young age. I’ve heard she will not be able to walk, talk or “do much” by many specialists, and today she is defying the odds by doing exactly the opposite. We communicate through a communication device. I’ve stayed up for hours searching what else I can do and getting ahead of her doctors so I could be the best advocate for my daughter. We’ve reached a point where our doctors listen to my concerns instead of by going by the book. I’ve cried in silence for hours wondering why I couldn’t find a similar case as hers and be able to know what is ahead for her, for us. I’ve cried in fear of what tomorrow would be like and how her life growing up would be. I’ve tried for hours to find another child with the same diagnosis, to know we are not alone. I still type “trisomy 5q” on the Internet to see if anyone else is looking for a child like mine so we can share our fears, our stories, and what our tomorrow might look like. All I see, all I find is our story, our journey. Our journey is written for the next parent who will have a child with the same diagnosis and perhaps will feel less lost like we once did. It’s good to know you are not alone, that there is someone out there who knows exactly what you are going through. We have that with our rare family community — different stories, different paths, some have no diagnosis at all and are still trying to find what makes them so rare. But we share something in common: someone rare, and each one of us is trying to raise awareness. You don’t know the love you have for your child and what you can do for them until it happens to you. You see the world differently; you want people to know the differences and you want them to accept it. I’ve become my child’s advocate. I fight for therapy hours with insurance, to get referrals for new specialists with our medical company. Our home has been invaded by strangers — “strangers” who now love my little one and want what’s best for her. That is what rare looks like. Rare is not knowing tomorrow. Rare is fighting for your child’s rights. Rare is often feeling alone. Rare is crying in silence because you fear no one will understand because they haven’t walked that path. Rare is also crying of joy over your child’s accomplishments. Rare is feeling exhausted because sometimes you wonder what else you can do and feel like you have no more energy left behind. Rare is spending most of your time in the medical world. Rare is trying to find a balance for your child to experience as much of a “normal” life you can offer. Rare is knowing the meaning of loving unconditionally. Oh the love, oh the strength that unconditional word gives you. Rare is knowing your child is happy. Rare is knowing you are doing the best for her. Rare is the rewarding cuddles and kisses and the trust she has in me. You go beyond your limit; you do all you can for that human being. So for Rare Disease Day, I’d like for you to know a bit of my daughter’s journey. It’s rare, and it’s our story.

    What Was Impossible to See on Diagnosis Day, I See Clearly 3 Years Later

    It’s been three years since we stood in a front of the geneticist who gave us a diagnosis we never heard of: trisomy 5q. All sounded so unreal. I kept repeating that word in my head. Trisomy. It was nothing I’d imagined hearing. Then again, what exactly did I want to hear? Even today I’m unsure. What she has doesn’t have a cure, and we didn’t know how it would impact her life. I remember my head spinning, my heart racing, staring at her, tear after tear falling and the specialist handing me one article from the internet as an explanation of her diagnosis. She had a copy in one hand and read it out loud to us. My daughter’s diagnosis came from a printer. One article was found about it. Stepping out of the office, I was at lost. Where do I go from here? Where do I go from “your child has heart issues” to “your child has a rare trisomy”? How do I tell others? Do I have to tell others? Trisomy means delay; it means people not accepting differences; it means many health issues. I could only see the bad while holding such a beautiful human being in my arms. I couldn’t imagine the worst, but at the time, I believed I had to. When I heard she may not walk or talk, and she may be severely delayed, I didn’t know what to expect. It wasn’t just a parent’s job anymore; we had to have a team of specialists. Our home was invaded by strangers who wanted my little one to succeed, too. Strangers to this day I can count on when in doubt of something. This month marks three years with an actual diagnosis. That little girl who wasn’t going to walk according to some doctors is now trying to run. Next month it’ll be a year since she started walking. That little girl who woke up at all hours to eat just like a newborn now gets 12 hours of sleep. Today I can be thankful for her feeding tube, when originally I doubted if we made the right choice and if by placing it, if she would ever eat orally. I once was ashamed to tell her story, afraid people wouldn’t get it. Afraid of her differences and acceptance from others. Today I can tell her story without any hesitation. Today I’m trying to make a difference for the next parent who gets the same diagnosis so they don’t ever feel lost. If you Google trisomy 5q today, you won’t find just one article — you can find several. This is because of those who believe our story is worth sharing, those who believe being different is beautiful. I’ll be forever thankful to amazing organizations that believe in our children’s differences and do everything for those kiddos and the world to know about them. I’ll be forever thankful to amazing photographers for taking the time to capture my little one’s magic. I’ll be forever thankful to the specialists who believed in my child and made sure her needs were met. Unless you’ve lived it, you can’t imagine how difficult it is to hand your child into a surgeon’s arms, spend nights in hospital while holding your little one’s hand and praying things will be OK. Unless you’ve lived it, you can’t imagine how hard is for some people to see your child the way you see your child. She’s simply amazing. Despite all the health issues, the delay, the fights to eat food orally or to get a sound from her, she is happy, and today, I truly know this is all that matters — k nowing she’s happy. I couldn’t see all of this three years ago. I imagined the worst. Today, I make sure she’s heard. I am her voice until she can be her own. I am her nurse, her therapists when they’re off-duty, agenda-keeper, tear-dryer, her arms she comes to when needed, the one who protects her and makes sure she knows no matter what difficulties she may have her way, things will be OK. I couldn’t ask for a better child to guide me through motherhood. Today, I can’t picture her any differently than her own little self. It would be a lie if I told you my heart doesn’t ache when a typical 3-year-old comes to me and tells me stories when she isn’t able to yet. But in her own little way, she tells me what she wants, and I can only be thankful for that. I know her favorite songs, I know what she wants by a simple gesture and I know what makes her happy — you can’t beat that. I wish I’d known three years ago when I left that office in tears that things would be OK, that the road will be long, that she would go through more than most people go through in a lifetime — but that our lives with a miracle would be pure joy, that I would be proud of all she has accomplished. That day, I apologized for her diagnosis, I apologized for all the things she may or may not be able to accomplish on her own. Today, I just want to apologize for ever doubting her, because she isn’t defined by her trisomy 5q — she’s just who she was meant to be all along. Happy three years of diagnosis, baby girl. My life is just way better with you in it. You’ve taught me way more than I ever thought you would. You’ve been my best teacher all along. The Mighty is asking its readers the following: Describe the moment someone changed the way you think about disability and/or illness. 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.

    Strangers Give Birthday Surprise to Young Girl With Trisomy 5q

    Daniella Ferreira and her daughter, Naylah, live in Austin, Texas. Naylah has trisomy 5q, a rare chromosomal disorder that has landed her in and out of the hospital throughout most of her life. She has undergone heart surgery, a feeding tube placement and numerous other medical procedures — all before she was 3 years old. Naylah’s third birthday was coming up, and one of her favorite things in the world is Snow White. Ferreira wanted to find her a Snow White dress to wear, but because Naylah is smaller than the average 3-year-old, finding a dress that fit was impossible. So Ferreira reached out on an online message board for a local community group to see if anyone could help her find a suitable costume. That’s when an incredible stranger stepped in. Jennifer Bowen Soto, another woman in the community group, responded to Ferreira’s message and said she would be happy to make Naylah a Snow White outfit for her special day. The two finalized details, and soon, Naylah had a beautiful handmade Snow White blouse and tutu to wear on her birthday. Bowen Soto didn’t stop there. She contacted Lindsay Jo Allen, a lifestyle photographer also based in Austin, Texas, and arranged Snow White photoshoot for Naylah in the park — free of charge. Bowen Soto and Allen brought all kinds of props, including a mirror, wand, apple and even a bubble maker, to make the afternoon more fun for Naylah. Photo via the Lindsay Jo Photography Facebook page “They didn’t see her differences. They captured her beauty of being different,” Ferreira told The Mighty in an email. “When I look at the images, I remember those moments when two extraordinary women made my daughter feel like the most important human being on earth.” Ferreira says the moment she most cherishes from the day is when Naylah got up to hug Allen at the end of the photoshoot. “She hugged her for so long,” she told The Mighty. “It was like she knew what they did was beyond amazing.” “I’m not sure if they realize this was a big deal for us,” she added. “This was a huge act of kindness from someone who didn’t even know us but was still touched by my daughter’s journey.” To learn more about Lindsay Jo Photography and see more of her work, visit her Facebook page. 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 .