Cure SMA

@curesma | partner
Cure SMA is dedicated to the treatment and cure of spinal muscular atrophy (SMA), the number one genetic cause of death for infants. We fund groundbreaking research and provide families the support they need for today.

Spinal Muscular Atrophy Awareness Month: Supporting a Child With SMA

When a person is newly diagnosed with a disability themselves, or becomes a caretaker to a loved one with a disability, they often quickly discover how inaccessible the world around them really is. In regards to dealing with the needs of a young child with a disability, finding ways for my son to participate in holiday activities (e.g., Easter Egg Hunts) has been a real challenge over the years. However, as the saying goes, “If there is a will, there is a way.” An unexpected bonus to having to adapt activities to meet my son’s needs, due to him having spinal muscular atrophy (SMA), is that it has taught me how to think outside the box to come up with workable solutions. Having to constantly modify the world around us so my son can access it has also made me more aware of, and sensitive to, the needs of others. I’d like to think that knowledge has helped me to become a more accepting and compassionate human being overall. Please be encouraged that even though managing a disability can be hard, it does not mean life is no longer worth living. There is value to be gained from the struggle, and joy to be experienced in overcoming obstacles.

Why I Spread Awareness About Spinal Muscular Atrophy

People spread awareness about disabilities in various ways and for a multitude of reasons. For me, the goal of spreading awareness about disabilities, like spinal muscular atrophy (SMA), is to encourage social acceptance and inclusiveness. People tend to fear the unknown, and they respond in kind to that fear. For instance, it hurts to watch both adults and other children act like my son is invisible when he attempts to engage them in conversation from his wheelchair. Either they don’t know how to, and/or they don’t want to interact with a disabled child, which is unfortunate. Kids with disabilities are still kids after all. They have hopes and dreams like any other child their age. They also desire human interaction and connection as much as the next person in this world does. I hate seeing the sadness in my son’s eyes when he tells me that he doesn’t have any friends, but that is a sad reality for many kids with disabilities. It gets lonely being treated like a pariah because people are afraid to ask questions about things that make them sad or uncomfortable. My hope is that one day, people will stop being afraid of my son’s disorder and see that he is a person worth getting to know. A great way to do that is by normalizing disability, in general. How do we, as a society, “normalize” physical or mental impairment? By not shying away from those topics of discussion. Spreading awareness matters because knowledge leads to compassion and understanding. As such, if anyone has questions about SMA or families like ours, please don’t hesitate to reach out and ask me. I’d be happy to answer them from a mother’s perspective.

Cherie Ehlert

Protecting Children With Disabilities During COVID-19

I was talking to a friend today who asked me, “is there a small dark corner of your brain that wonders what it’s going to be like for the rest of us to take a fraction of the chance on our kids health that you have had to?” I have a 10-year-old daughter named Charlie-Anne who was diagnosed with SMA type 1 (like ALS) and given “a few months” to live at 6 months of age. What would the usual cause of death be? The common cold. For 10 years we have lived in COVID 19 mode. We bought out all the sanitizer and Lysol wipes way before it was cool. Like a lot of people I’m reading/hearing about now, sometimes we just had to let our guard down, and take “risks.” It really f***ing sucks when playdates and school and public library outings are considered risks.And, we had to weigh the risks. Is it worth it? Is it important to her? Is keeping her from the opportunity more detrimental than letting her experience some normalcy?  I had to trust my gut and my heart and hope it wouldn’t steer me wrong. So, she went to school, sometimes, and to the library, sometimes, and had play dates , sometimes. We’ve even taken her to Disneyland twice. But sometimes she got sick, really sick. Charlie has been hospitalized many times. She’s almost been taken from us many times. Every time she was attached to those machines and struggling to breathe, I’d go through the Rolodex of people and places we’d been, looking for the culprit, needing something or someone to blame. I punished myself for relaxing too much. I prayed to God to not take her. I promised I would be more diligent in her care and to never expose her again. And then, miraculously, she’d get better. And she’d come home again. And my brain and heart would recover. It buried the hospital stays. It erased details. And then she’d pine for normalcy again, and I would give it to her, in small doses. Sometimes she’d be at school with her nurse and her educational assistant and I’d be at work or running errands and bam — panic would hit me. What if she gets sick? What if she chokes at school? What am I doing? It’s not worth it! And I’d call her nurse, get talked down and relax again. Sometimes I’d put her to bed and go to bed myself and an hour into my sleep I’d sit up and panic, “I forgot to wash her hands after she touched that toy the other kid touched!” And then I’d wait three days in fear for the symptoms to present themselves. I still do all of the above, daily. This has been our life for 10.5 years. I have PTSD from all of the close calls, and I’ve learned I’ll never do the right thing 100 percent of the time, and there will always be fear and guilt. So instead, I look to her to help me make a lot of the difficult decisions. I want to protect her and give her a great life and see her happy. I’m afraid of what that could mean for her, and will always repent for my “sins” of taking too many “risks” each and every time she is hospitalized. But I am doing the best I can do, and you will too. And your kiddos love you for it. I’m sorry this is everyone’s new normal, and fortunately/unfortunately, in my experience, you’ll get great at it. For more on parenting during quarantine, check out the following stories from our community: Please Wash Your Hands Year-Round — Not ‘Just’ Because of the Coronavirus Creative Activities to Try With Your Kids While We’re Isolated at Home How We Can Promote Continuity in Special Education Programs During the COVID-19 Pandemic What It’s Like Parenting a Medically Complex Child During the Coronavirus Outbreak

Grace R.
Grace R. @gracer
contributor

Why I Didn't Walk at My College Graduation

I can walk. Yesterday I did high intensity cardio and made the five-mile roundtrip to see fireworks on the lake near my home. But I can’t tolerate UVA due to my solar urticaria. And because of that — I couldn’t walk at my college graduation. It was one of the harder decisions I’ve had to make due to my rare, chronic illness. I knew I physically could not handle the outdoor graduation ceremony under the May sun. I knew my body would be angry with me for days. I knew that I risked passing out. But I also knew that it felt like I was being cheated somehow — not getting the full experience. I picked up my diploma cover from the president’s office. I got copies of the program and saw my name there alongside the words “BA in Economics and Business Administration, Summa Cum Laude, Phi Beta Kappa.” The administration tried to make the ceremony as accessible as possible. They tried to work within my framework, but I knew it would be a long run for a short slide (and a nasty reaction). My parents did everything they could to make my graduation feel special. We went out and ate an amazing dinner at a restaurant that could accommodate my food allergies. We took a bunch of pictures with the business school sign and one of the big sculptures near campus. We hiked my favorite trails, drank some good wine, and gazed at my diploma cover with all the awe and excitement we could muster. We even got my sister, her husband, and their beautiful newborn baby into the mix on FaceTime. I had an amazing graduation experience, but because of a lack of accessibility, I couldn’t walk at my graduation. And that almost cost me dearly. See, I’d gone on two dates with an economics classmate of mine right before our graduation ceremony. First to get drinks. Then to get coffee. He was going to ask me out to dinner. It was going to be our first real, official date at graduation. But he couldn’t find me. And he wrote off any potential for our relationship until much later. He sent me a letter and I responded. We started texting daily, and three months later we awkwardly declared our affections over Skype. We dated for five months, separated by 700 miles. Then, we finally moved to the same city. We’re still going strong past the 10-month mark now. I’m thankful — so incredibly thankful — that our relationship came to be. But I can’t help but wonder how things would have played out if graduation hadn’t been held in the blazing sun.

Parenting a Terminally Ill Child With a Chronic Illness

Samantha and Millie. I’ve experienced many challenges as a person with mitochondrial disease and chronic illness in my lifetime. In the later part of high school, I struggled with attendance, since most days I felt so awful I didn’t know how I would get out of bed in the morning. During my college years, I struggled with the progression of an unknown disease which included two hospitalizations and many ER visits. Following college, I struggled to work as a charge nurse in a long-term care facility. Eventually, I was unable to continue due to my health. After my husband, Justin, came into my life, things were better in many ways. My illness didn’t disappear, but I had finally defeated my own assumption that because of my illness I would never find someone to share my life with. We were overjoyed to find out we were going to be parents in August of 2015. Though I struggled with several complications during my 39 weeks of pregnancy, I couldn’t wait to be a mom. My sweet girl Amelia was born in April and I couldn’t believe how blessed I was to have such a perfect baby. But, throughout my pregnancy and after she was born I couldn’t shake the feeling that something was wrong with her health. In the following month, we finally were able to get answers about our daughter’s condition. Unfortunately, the top culprit suspected was spinal muscular atrophy, which we confirmed through genetic testing. Because of the early onset, it was very likely our daughter would be terminally ill, and without major intervention, she would not survive past 2 years old. I was not new to the community of disabled individuals, and I’ve encountered many parents of children with disabilities, and even terminal illnesses. Adjusting to life with my daughter’s feeding tube, oxygen, suction machine, and physical limitations really wasn’t difficult. What was difficult was knowing my daughter was going to die soon, sooner than I ever dreamed. Millie didn’t know life without SMA, and she never saw herself as different and knew nothing but love. Caring for myself and my daughter was a constant balancing act. I could be no good to her if I wasn’t as healthy as possible. Her care was very time-consuming, as she needed constant supervision, routine medications and a strict schedule. But there was always time for snuggling and dancing. My girl loved it when people danced with her. I never found myself wondering how my daughter would die. That was fairly straightforward. She taught me that being anxious about how the end would come wouldn’t allow me to enjoy the beautiful and delightful little angel that was right in front of me. Amelia Marie died on July 15, 2016 at the age of 3 months and 10 days. I miss her every day, but I have taken so much from my time with her. I focus on my quality of life, comfort, and happiness. Those are the things I chose to focus on for her as well. For the rest of my life, I will grieve the loss of Millie. She gave me a confidence I didn’t have before, a confidence in my own voice, the ability to advocate for myself and my children, and the beauty of cherishing the moment. It may sound cliché, but it has made all the difference. Follow this journey on Confessions of a Girl With Mito We want to hear your story. Become a Mighty contributor here .

How to Deal With Grief After Losing a Child to Spinal Muscular Atrophy

There are certain situations in life when the phrase, “ It could be worse ” seems absolutely absurd. For parents, losing a child is most definitely one of those moments. In the days, years, even decades after losing a child, this sentence might make most of my fellow angel moms cringe. Cry. Scream. I would be neither surprised nor offended if it quite literally made them want to hit someone, to hit me for saying it. Because I get it. Our daughter was born critically ill, diagnosed with congenital spinal muscular atrophy. She passed away 78 days after her birth, while cuddled in our arms on a small couch in the NICU. Hear me loud, and hear me clear: losing our daughter is without a doubt the worst thing that I have experienced. But in my own moments of grief, I force my mind to dissect the nuances of this thought. I try to distinguish between the worst thing that I have experienced, and the even worse things that could have happened, but didn’t. To overcome my own grief, I tell myself it could be worse. This is admittedly a strategy of self-preservation. One first encountered while reading a transcript of Sheryl Sandberg’s commencement speech at the University of California at Berkeley. As I sat on the couch in my daughter’s NICU room – the same couch on which she would later take her last breaths – one paragraph in particular stopped me in my tracks. Sheryl says: “One day my friend Adam Grant, a psychologist, suggested that I think about how much worse things could be. This was completely counterintuitive; it seemed like the way to recover was to try to find positive thoughts. “Worse?” I said. “Are you kidding me? How could things be worse?” His answer cut straight through me: “Dave could have had that same cardiac arrhythmia while he was driving your children.” Wow. The moment he said it, I was overwhelmingly grateful that the rest of my family was alive and healthy. That gratitude overtook some of the grief.” From that day forward I’ve held on to the idea that at any given moment, genuine gratitude can be stronger than grief – even very real, very deep, very dark grief. Acknowledging what I have to be grateful for instantly and almost unconsciously softens the sadness. And even if the sadness is lifted for only a fleeting moment, when strung together over time, these moments are what help me move forward after loss. So I say it to myself. I say it to myself when a dark day begins to creep up on me. I say it to myself when I’m sitting in the depths of my sadness, struggling to find the strength to stand again. I will say it to myself over, and over, and over again. I will hold on to these words as one of my many mantras that help me maintain a sliver of sanity at a time when it would be so easy to feel otherwise. At first it was difficult for me to think of scenarios worse than my own, but the ideas slowly surfaced. It could be worse. I could have been seriously hurt, or died during labor. Like Sheryl’s moment of clarity, I was immediately grateful my husband and I were both alive and well and able to support one another during this nightmare of child loss. It could be worse. My daughter could have been born into another family. My husband and I drenched our daughter with love every single second of her short life. I was honored and grateful I got to be her mama. That I was able to show her love and happiness. The idea that she could have been born into a family who might not have shown her love like we did, sent searing pains through my body. It could have been worse. We could have never had our daughter. I stared at my beautiful daughter, and felt immensely grateful that she was here. I cherished the fact we were able to get to know her, laugh at her wild hair and sassy personality… that we were given the opportunity to meet and love her. I was grateful for her, no matter what her life’s plan looked like. I was simply grateful for that moment. And now, even as our daughter’s nursery sits silently at the end of our hall, as I spend countless hours clearing up insurance claims, and I realize despite one’s best efforts, the world does not stop when you want it to… I remind myself it could be worse and I force myself to count the ways. Because I know I have so much to be grateful for, and my daughter’s life, love, and legacy sits high on that list. I’ve experienced for myself how genuine gratitude really can be stronger than grief – even very real, very deep, very dark grief. A version of this post originally appeared on Her View From Home Follow this journey on Olivia Luke and Whitney

Alyssa Jones

Having PTSD When Parenting a Child With Special Needs

I know we are not supposed to say the word “normal,” but we all use it in our thoughts. This morning we almost felt normal. We got up, dressed, packed the lunches and loaded the kids up for school. I was off to work and my husband off to take the kids. But it wasn’t normal. I woke up and watched my daughter’s oxygen levels to see how our morning was going to go. We made her lunch and prepped her feeding tube bag. We loaded her into the car using a wheelchair lift. This is our life with a child with a life-threatening illness, specifically spinal muscular atrophy. And we have embraced it, in its non-conformity, its differences and uniqueness. But how has this life taken an unseen toll on us? When your child has a life-threatening illness, it requires you to occasionally save her life. Sometimes it even requires you to face her death, stare into the possibility of a future without her. Paramedics, firefighters and soldiers face issues with post-traumatic stress disorder (PTSD) for the difficult things they witness, but PTSD does not only affect those who fight for our country. What if the child’s life you save, the airway you clear, the heart you keep beating, belongs to your own child? The baby you birthed and nursed in the middle of the night? You just wake up and make lunches and go to work, right? You can do that until you are at the grocery store and there is an announcement over the loud speaker preceded by a loud beep, which reminds you of beeping hospital machines, and suddenly you are crying in the wine aisle (which seems almost fitting). But I pushed past that warning sign. And then a couple days later at work, the copy machine jammed and wouldn’t stop beeping. I started hyperventilating and generally lost it. After a quick Google search, website after website kept referring to PTSD. I saw common symptoms with what I was going through: no sleep, no desire to eat, lack of social interaction. But those come with our in-and-out of the hospital, endless doctor appointment-filled lives, right? Wrong. Because when there is a test of the Emergency Broadcast System and you “flip out” in the middle of a semi-crowded waiting room, it’s not normal. When my child turned blue, I calmly picked her up, carried her to her room and placed a plastic catheter down her throat until her breathing stabilized, yet I fear going to the grocery store. Other people, even those with medically fragile children appeared to be handling their lives well, and I felt guilty for even thinking the letters PTSD. And moms aren’t supposed to have mental breakdowns. They pull themselves together and make appointments, schedule the next holiday and make dinner. My friends and family couldn’t quite understand what I was going through; they thought a professional would be better suited. I was unwilling to take their advice then, just as hard as it still is to admit I need help. But I am nothing if not a problem solver, and as the symptoms got worse, it seemed that was the only way to solve my problem. What was harder than making the appointment or talking to a professional about my experiences, was allowing myself to have PTSD. If there is any advice I could give to other parents or caregivers experiencing something similar, it would be that trying any solution is the best option. And in this case, speaking to someone about your mental health and getting the help you need is the best solution.

Finding Inspiration With Spinal Muscular Atrophy

Precious. Growing up with a neurological disorder, spinal muscular atrophy type II, has never been easy. I have never, nor will I ever be able to crawl, stand, or walk, for my muscles are weaker than the “norm,” and will progress as I get older. Though at times my illness has come in the way of me completing my goals, I have never let it stop me from eventually achieving those goals. I for one believe, in order to achieve, you have to believe. Like any person trying to find their their purpose in life and discover who they are, I also went through a stage where I was lost. I did not care. I did not see a purpose in it, having spent the majority of my life hospitalized. And although I had continued to persevere through my many hospitalizations, and graduated with both my associate’s and bachelor’s with honors, I was still not able to understand my purpose in life. Two years ago, I went to the hospital for a minor surgery, and woke up scared and confused because I was intubated. For a person who struggles with respiratory difficulties, being intubated is a very scary thing. During this scary moment in my life, I did not know if I will be able to breathe or eat on my own again. So, I made a promised to myself, that if I made it through this experience healthy, I will live my life. I promised to enjoy every moment of my life. I will take advantage of every opportunity that comes my way, and I will inspire not only others, but myself. There is only one life — it’s mine, and I deserve it! After this beautiful, tragic event — beautiful because it was a moment of realization of appreciating life — I have held to that promise. I made it my mission to do right by myself. I found an appreciation towards life and everyone in it. During the process of living each day of my life to the fullest, I took an introduction to a special education course during my first semester in the master’s program, and fell in love with it. While studying in this program, it has motivated me to create a blog called “Born to Stand Out.” It is for all people who have felt lost in any way, different, outcast, or unattractive. It is place of acceptance, to find inspiration and motivation, to help others feel comfortable within their own skin. We are all beautiful inside as well as out. So far the blog has been doing well, and I truly enjoy being able to assist those who partake in the blog, for they all inspire me as well. Nothing in life is impossible. As long as you believe, you shall achieve. Follow this journey on Born to Stand Out

Kelley Wiman

Having Hope When Parenting a Child With Dravet Syndrome

Kelley and her son. Everyone always says to appreciate the moments you have with someone, because they can be gone before a tear even hits your cheek. This has been multifaceted  to me for as long as I can remember. I never wanted to envision a day without my parents. So I didn’t. It seemed too big and too painful to fathom. I was right. Millions of times worse than I could have imagined. I have a beautiful family of my own. A sweet wonderful, handsome (very, very handsome) husband who works his fingers to the bone for us. He is the most devoted Daddy. I have a step daughter who I’ve watched grow into an adult. I fell in love with her first, guy aside. We got married and had a beautiful, precious cub. Jayce. My sweet, smart, fierce, fragile, breathtaking boy. He has Dravet syndrome. It’s like trying to be a mother to the ocean. So complex. So powerful. So crucial. And so wise. And quiet. And already he holds the experience of many lifetimes. A million little ecosystems in that body, not always working in harmony. The storms can be violent. Those waves can take his life. We can’t control the ocean. Just roll with the ebb and flow. I can do my part in protecting the environment and climate. But I can’t think like that. I can’t focus on the tsunami and miss the days where the water is smooth. It’s hard to look for tomorrow and appreciate today. It’s hard to fight for that every day and to savor it. But I have boatloads of hope. It’s all I have. My fleet travels this ocean. I know a lot of other oceans. Every one is breathtaking and unique. I know those mothers trying to shoo the clouds away. The distress flares are glowing. The water may seem choppy and the waves are just coming in too hard and too fast. Look farther. Look. Look for one of those boats. It’s there. Hope floats.

How to Cope With Discouraging Doctors When You Have a Rare Disease

I can’t even count the number of times I walked out of a doctor’s office wanting to cry. A lot of doctors just don’t get it, or at least they just don’t try. They have a way of doing things, and your rare diagnosis doesn’t fit into their checkbox. So what do you do when you’re facing yet another discouraging doctor? I’ve grown weary of the discouragement and I’ve discovered three major ways to fight it. 1. Bring someone to the appointment. Having someone with you, who is on your side, is a sure way to increase confidence. When your doctor looks at you and says, “Are you sure it’s not just stress?” you can turn to your confidant and they can back you up. Have them also provide examples of your symptoms.  They’ve been there and they’ve seen your pain. I recommend bringing a family member or someone that you live with because they will have been there in times that you may not recall. I’ve had my mom or husband bring up symptoms that I completely forgot about because of being put on the spot. Don’t let the doctor dictate your symptoms. Your symptoms are yours alone to define. It also helps to have your buddy take notes. There are so many things that I miss when I am in a doctor’s appointment. Request to record the appointment or bring a notebook and take lots of notes. It will amaze you how much you forget by the time you get home. 2. Be prepared! Prepare a list of questions. Every question that’s gone through your mind is worth asking. You are there to pick your doctor’s brain.  Don’t leave without getting your questions answered. There are so many times when I’ve felt shy or overwhelmed and convinced myself that my question was unnecessary. Sure enough, when I get home, I regret not asking. It’s also important to bring a list of the symptoms you experience. Doctors will ask about your symptoms, but the moment you mention one of interest, they’ll ask more about that specific one. And by the time you get through the appointment, you’ll forget to even bring up the four other symptoms you wanted to talk about. It can even be helpful to hand the list to the doctor when you walk into the appointment. Mention that you want to get to all of them. This is your appointment. Don’t be afraid to take charge. 3. Don’t settle for less. You know your body. You know your symptoms.  Don’t let the doctor dictate your opinion of yourself. If your doctor refuses to affirm how you are feeling, don’t settle for it. Stand up for how you’re feeling.  No one can tell you it’s wrong. If you walk out of the doctor’s office feeling discouraged and misunderstood, it may be time to find another doctor. There are amazing doctors, but just like any profession, there are some crappy ones out there too. Don’t settle for the crappy doctors when a great one is just around the corner. I saw a doctor for several years that made me feel invalidated and downright stupid for my symptoms. He told me it was stress and that I should take anxiety meds. He told me I was too worried about it and that I should try and relax. I wanted to give up. In fact, I did for a while. And when I tried again, I discovered there were, not one, but three underlying conditions that were causing my symptoms. Now I have found several amazing doctors who do nothing but affirm every symptom and work with me to discover a way to manage them. There is a great doctor just around the corner. Don’t give up looking! And don’t settle for anything less than what you need.