Nemaline Myopathy

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    May Shannon

    How to Be a Parent Advocate for Your Medically Fragile Child

    Before motherhood, I used to think of advocacy as big grand movements, loud protests and picket signs in bright colors. My experience so far has taught me that advocacy arrives in many forms. As the mother of a medically fragile child, it can come quietly. In moments where you feel lost in a fog of sleep deprivation and endless appointments, all you hear is the sound of your child’s voice –the only voice that matters. And so you advocate. It happens behind the glare of computer screens. Over sleepless nights where you tirelessly research your child’s conditions and needs. Searching for hope over the internet. It happens while sitting in doctor’s offices, as words tumble out of your mouth that you hope paint a clear picture of your child’s struggles while also lovingly emphasizing their capabilities. At times, it is absolutely heartbreaking. You end up disappointed by a broken medical system that leaves you to fight your way through it. You fight so hard to stay strong in front of your child, only to break down in the privacy of your bathroom, in the shower, or in a solitary drive in your car to the grocery store. Hiding the tears so your child doesn’t see the toll that it has on you. There are days you feel tired to the bone. Moments that can bring you to your knees, leaving you to wonder if you can find the strength to keep fighting. Yet, somehow you do. Sometimes that means you have to retreat back into your shell, to feel the grief, the frustrations, the disappointment. Sometimes that means you have to allow yourself to let the pile of paperwork grow and leave those emails and calls to respond for another day. You need those breaks. Yet, only long enough to give yourself time to regroup and find the strength you weren’t sure you had. A strength that is found rooted in love for your child, that can wash away your worries and bring you back to why you are here. This all-consuming love that turns you into a fierce mama bear when your child is in need, leading you to advocate like a mother.

    May Shannon

    Letter to My 3-Year-Old Child With Nemaline Myopathy

    Photo above by Living in the Light. Ethan, I still can’t believe that three years ago, I became your mother. I’ve watched you grow from this tiny, beautiful and fragile little baby to this larger-than-life little boy. I remember holding your tiny little body, not even 24 hours old, on my chest and feeling overwhelmed with so many emotions. Nervousness, learning to take care of a little baby. Uncharted territory. Exhaustion because, little one, that delivery was one hell of a ride. And complete happiness that you, beautiful baby boy, were mine. I stared at you in wonder, your heart-shaped mouth, your 10 tiny fingers and toes. I felt this all-consuming and indescribable love for you and for your daddy. We went from a couple to a family overnight. I finally knew what they meant when they said that having a child was like forever having your heart go walking outside of your body. My heart was now lying on top of my chest in the form of this little miracle. You were so much a part of me, of your daddy, of everything I loved, and I never wanted to stop holding you, breathing in your yummy baby scent. A little over a week later I all of a sudden couldn’t hold you because my heart was now lying in a hospital crib connected to tubes and lines and sensors. We didn’t know what was going on and why your body was failing you, but I have never felt such anguish. I couldn’t hold you when you needed me most, and one day I cried until your nurse let me hold you. They were scared to move you with all your tubes and lines, but I promised (more like tearfully insisted) we would be extra careful. When I finally had you back in my arms, you fit like a missing puzzle piece. For a while, I had this irrational fear that you wouldn’t know I was your mommy. There were so many doctors and nurses coming and going, and our bonding time was interrupted with the daily routines of the pediatric ICU. You taught me just how strong the bond between a parent and child is, as of course you never forgot me or your daddy. We lived for the moments we could hold and rock you. We still do. We spent every day at your bedside, and every night that I walked away from your sleeping little self in the PICU and walked back to our Easter Seal’s room, I struggled with the knowledge that you would wake up and find us not there. I am forever in debt to the nurses who comforted you on those nights. I’ll never forget the moment your doctor and team brought us into this little, windowless room off the PICU. The picture they painted of your future felt bleak. We had spent our whole experience prior to this optimistic and naive, believing this was all just something you would outgrow. I felt my heart drop to the floor as I listened to your doctor explain your long term situation. I remember thinking to myself, I’m going to quit my job and dedicate my everything to you. I felt the dream I had of what our life would be like starting to drift away as I began to imagine what our new path would be like. A different path but just as special. We weren’t sure what to expect, no one did, as the reoccurring phrase heard from your doctors was, “We will just have to wait and see.” Last night, your daddy and I were looking back on our past three years with you, and he said the one thing that has always stayed constant has been your spirit, your love and your strength. Whether it be a good day, a bad day, through countless appointments and tests, you make it impossible to not feel optimistic about the future. No matter what happens, it’s going to end up OK. You’re going to succeed with whatever is thrown your way. I hope you remember that always. Look at how far you’ve already come. You’re splashing through puddles in your new power chair and driving over your grandparents’ garden. I’ve never been so proud of your mischief! You’re spelling words, “cat, dog, fish, Ethan…” and trying to mimic us when we speak. You’re learning to speak through an AAC app and learning more sign language words than I can count. (We suspect you’re creeping up to 100 words!) You learn things so quickly, and your memory is incredible. Your daddy and I love listening to you hum along to your favorite show tunes and love seeing your curious, funny and sweet personality shine through. You have us wrapped around your little adorable finger. It was heartbreaking to learn that the severe congenital form of nemaline myopathy had devastating statistics, with up to 66 percent mortality rates before the age of 2. Yet, here you are, 3 years old. We treasure every single day with you, and each birthday is precious. You’re still here, still fighting and still showing us love unconditionally. Navigating the rare disease world hasn’t always been easy, but loving you always has. “Making the decision to have a child – it is momentous. It is to decide forever to have your heart go walking around outside your body. ” ― Elizabeth Stone By contributing to research and bringing awareness to nemaline myopathy, we can actually help. I can’t stress this enough. There could be treatments for Ethan and others living with NM within his lifetime. Please consider donating toward A Foundation Building Strength to directly support NM specific research and Ethan’s chances of finding a potentially life saving treatment. We want to hear your story. Become a Mighty contributor here .

    Sarah Smith

    Child Loss: What Not to Say to a Grieving Parent

    On August 13, 2015, I went into labor with my second child. At 4:08 a.m. on August 14, 2015, my world was turned upside-down because as quickly as our son, Trevor, came into the world, he was fighting to stay there. He stopped breathing, and before I knew it, an entire squad of medical personnel descended into my room. I couldn’t breathe. Trevor was whisked away to the NICU before I could figure out what was happening. At the same time, I began to hemorrhage and my mother was not only worried about losing a grandchild, she was worried she might lose me, too. Those first few hours were agony, not knowing what was going on and not being able to see and hold my child. Finally, a couple of hours later, I was able to see him and all of the cords and tubes that were keeping him alive. Hours turned into a couple of days and still no answers. We did know that Trevor wasn’t able to move, breathe on his own or swallow and therefore had to be tube fed. I walked around desperately searching for any hope and any treatment options. Trevor was transferred to another hospital that specialized in children, and there were still no definitive answers. We watched our son’s body shake when we held him because he was in pain and would have been crying if it weren’t for the tubes in this throat. His numbers indicated he was in pain when we would touch him. It was my own personal hell. Then we heard news that Trevor wouldn’t make it. Our main goal for him was to be free of pain, and that meant we had to let our beautiful baby go. For the first time, I was able to hold him without fear of unplugging cords. I was able to rock him, hold him and sing to him. My husband and I held Trevor until his heart stopped beating and the last breath left his lungs. At that moment, my world turned upside-down and everything felt foreign. A couple of months after Trevor passed, we found out he had a rare disorder called nemaline myopathy. Nemaline myopathy is a genetic neuromuscular disorder, which affects children and adults’ abilities to walk, talk, eat and breathe. Since losing Trevor, I’ve heard comments I think no one should ever say to a grieving parent. I’ll let everyone in on a little secret I’ve come to believe: You can’t make a parent who just lost their child feel better with words. There is no silver lining to losing your child. There is no “There is a reason for everything” or “This will make you a strong person.” I didn’t think I was strong and nor did I care if I was strong if I could trade that for more time with my son. Despite what people think, there isn’t always a reason for everything. Sometimes things just happen. I have heard from many that they can’t imagine losing a child. It’s a phrase that makes me thankful. I’m thankful you never have to know that deep agony and pain. You don’t want to be sitting next to me feeling what I’m feeling. The pain of losing a child is indescribable. Grief is a never-ending process. I’ll never be able to move through my grief because grief moves me. I can and am learning how to manage my grief. The learning process is one that has held many hurdles, and I’m constantly falling, but I’m also standing back up and bracing for the next wave. I can see that grief is intertwined with love because the grief is a result of the love I have for Trevor and is never-ending. Therefore, I will grieve for him until I leave this world and reunite with him. Sarah and her son, Trevor.

    May Shannon

    Nemaline Myopathy: What I Fear Most About My Child's Disease

    When I was pregnant, I obsessed over every little thing to prepare for our first baby. I downloaded several pregnancy apps and read the popular pregnancy books. I worried about which parenting methods we would use, what baby products were the best and which sleeping position would be safest for our newborn. I worried about the food I ate and the vitamins I took to ensure my baby’s best chance at a healthy start. Nowhere in these books and apps did they prepare me for what to do when your baby is born with a rare disease. Or what to do when you’re told your child’s disease has no cure. The first time I sang “You are my sunshine” to Ethan as a newborn, I was rocking him on my chest in a chair in the PICU. His little body was connected to so many lines, tubes and monitors. When the line “Please don’t take my sunshine away” came up — I choked up. All of a sudden this song had turned into a personal prayer request. This sweet song I had heard so many times had taken on a whole new meaning. We didn’t have a diagnosis at that point, but the fear of the unknown was troubling. I live with this intense fear that quietly follows me everywhere I go: the fear of losing my baby boy to this disease. I spend all day listening to him breathe, trying to stay one step ahead of a choking episode or breathing emergency with his suction machine never far from us. It’s the thing I am most afraid to talk about. It tears me up inside to even think about it. I don’t even like to entertain the idea. Life isn’t guaranteed for any of us, but a rare disease can make it more of a concern. Being a part of the world of rare diseases, I see all too often babies, children and adults taken from their families way too soon. Unfortunately, it’s a part of the rare disease world that few people want or know how to talk about. Because a part of this world is loss, we are driven to look for answers and hopefully a treatment. These families who have experienced loss from a rare disease are more than statistics. I’ve been blessed to have become friends with a few of these families. They are beautiful, loving individuals who have touched our lives. Every single one of them made our world a better place with them in it. We honor these angels by pushing forward. This is why it’s our mission to bring awareness and hopefully interest in research for a cure for our loved ones and future generations. Without a doubt, we have been blessed to be Ethan’s parents. He came into our world with a bang and he fought like a warrior to get through the first few rocky months. This beautiful little boy has and continues to teach me so much about life and the world. He works so hard and inspires me daily. He is my miracle baby. As a parent, all we dream for our child is the best life we can provide for them. To see them smile, laugh and explore their world and to never experience pain or sadness. Of course this is inevitable, but I desperately want there to be a solution to his everyday struggles. I want to know that he can have a chance at a longer and healthier life. The idea of a “cure” to a rare disease seems so obscure and almost like a fairy tale. How often do we see muscle diseases/disorders that have treatments that work? Rarely. That’s why I think this is where we lose focus. We sit on the sidelines and hope someday someone will magically find a cure. We need to do more. A treatment or cure is rare but possible. Take myotubular myopathy (MTM) for instance. A community came together and, with dedication and the right resources, they have made great strides in gene therapy for this myopathy. This shows that there is hope for congenital myopathies, and I have hope we can do this for nemaline myopathy (NM), too, with the right support, commitment and resources. Time is of the essence because this process takes years, and we need to find something for Ethan and his NM family now.   So even though I’ve shared my biggest fear, I want you to know my fear will never outweigh my love for my child. Instead, it will push me to strive for the best life possible for him. Ethan brings an incredible amount of hope and faith into our lives. We are told there is no cure for this disease, but we will not give up hope. Like every parent, our child Ethan is the world to Scott and I, and we will do absolutely anything for our son. For more information on research for NM, take a look here. F or our T-shirt fundraiser, click here. To look into the amazing work happening for MTM, visit their site here. Follow this journey on Super E – Our Little Panda. 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 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.

    May Shannon

    When I Feel Inadequate as a Special Needs Parent

    Today I want to share a side that isn’t easy. I think we spend a lot of time criticizing ourselves and comparing. Facebook makes it easy to show the best and hide the worst. I often kick myself for not doing as much as the next parent, especially in the special needs parenting community. I look at the next parent and think, “Wow, I don’t do as much as they do. Maybe I should be doing more therapies and so forth with Ethan.” Most days our place is a mess, I barely make meals for myself and I focus on just getting everything needed for Ethan done. Sometimes it takes me days and weeks to reply to text messages and emails because I get so distracted. (Sorry friends and family! I’m really not ignoring you!) There are often big medical worries floating around in my head that I push to the back because I want to get through each day and be strong enough not to break down. I often try to focus on the positive, but then there are days like these where I plop Ethan in front of the TV, I drink my coffee and I cry. I cry because I can’t make his problems go away. I can’t just kiss a skinned knee and know it will scab over and heal in a few days. I Google “nemaline myopathy” and often find the search engine suggestion for “life expectancy.” I remind myself that each case is unique and our kids continue to amaze us with what they accomplish and overcome. When he cries and chokes, images of our last hospital stay often pop into my head, and I pray this doesn’t lead to another one. Those are images that don’t ever go away. I spend a lot of time Googling the next best supplement or therapy to try to help Ethan. I wonder if there was something I could’ve done months ago that would have helped him now. If the therapy choices and medical choices were the right ones. I often don’t feel good enough to be a good partner and mother. I smile and I remain positive, but sometimes the doubt creeps in. I post a video of Ethan doing something amazingly huge for him, and then I cut out the part where he chokes and needs to be suctioned because I want to focus on the good. But this is our reality and a part of what makes Ethan, Super E. The daily struggles he overcomes are what makes him my inspiration. It makes all my other problems so small and insignificant to see what he fights through each day. Then he does so much to make us smile, like when he learns a new sign and his eyes brighten because he can finally express himself. Or each time he moves his arms and legs and coordinates them to do what his mind is telling them. It may be slower or weaker, but he is determined. Or each day we’re home and away from the hospital is a blessing, and we get the honor to love and care for such a special little human being. Watching him learn to hug his daddy and kiss him is absolutely amazing. I try to remind myself that his dad and I do everything in our power to help him and get through our own hurdles. And that needs to be good enough. I think this is a good reminder to everyone — your best is good enough. And don’t compare yourself to anyone else. Life isn’t perfect, and we each have our own struggles, but we all have the ability to move forward and make the best of each situation. There’s always something to be thankful for, and I’m thankful for Ethan and the many people in our lives who support and love us. Today I’m going to be in my PJs, and we’re going to do what we do. I’m not going to feel bad that the dishes aren’t done. I’m going to enjoy the moment because he won’t be this little always. Make a promise not to be hard on yourself today. Take pride in what you do. Follow this journey on Super E – Our Little Panda. 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.