Spinal Muscular Atrophy

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    How Spinal Surgery Affected My Son With Spinal Muscular Atrophy

    I didn’t know that I wouldn’t be able to pick you up again. I didn’t know that your body wouldn’t bend. I didn’t know that my upper arm strength was so weak. I didn’t know that spinal surgery would change everything, not just the shape of your frame. I didn’t know it would be the last day I held you in my arms. I didn’t know I wouldn’t dance with you again to silly songs. I didn’t know it would stop you from sitting in my lap. I didn’t expect everything to change in an instant. If I had known, I would have held you for longer before placing you on the gurney for your procedure. My only regret is that I miss the feel of your comforting weight, but I wouldn’t change the outcome either. It is hard to stay sad when I look at you and see a smiling, relatively healthy, and happy kid, despite having spinal muscular atrophy, doing great. My arms may be empty, but my heart is full and lightweight.

    A Thank You Note From a Mom of Children With Disabilities

    Dear Friend, Thank you. Thank you for accepting me as the hurting and flawed human that I am. Thank you for not making me feel like a social pariah or treating me like I’m cursed because I have disabled children. Thank you for offering help without making me have to beg you for it. Thank you for not making everything a comparison contest. Thank you for finding my family worth your time. Thank you for treating me like a person like anyone else, with regular hopes and dreams. Thank you for letting me cry on your shoulder. Thank you for being willing to defend me when I am not around to stand up for myself. Thank you for not being mean to my children. Thank you for making me laugh! Thank you for calling me to talk about the day and what’s on your mind — it’s nice not to always talk about me. Thank you for just stopping by because you were in the neighborhood. Thank you for the meals you prepared and dropped off for my family while my son was in the hospital. Thank you for always wanting to assist us in any way that you can. Thank you for not being afraid of our circumstances and for supporting my son and spreading spinal muscular atrophy (SMA) awareness every chance you get. Thank you for seeing a need and then silently meeting that need. Thank you for not mocking or minimizing my fears. Thank you for not writing me off just because we had a disagreement. Thank you for making allowances for my hectic appointment schedule, even when it’s not always convenient for you to do so. Thank you for all your prayers and for not trying to pray my daughter’s autism away. Your prayers only ever made my kids and I feel loved and cared for. Thank you for inviting me out to dinner, to the movies, to the salon to get our nails done, etc. I couldn’t always accept the invites, but I always appreciated the offers and that you never stopped making them. Thank you for being willing to listen to me rant and rave about the things that make me mad or the wild things going on in my life. Thank you for visiting my son while he was admitted to the hospital. Thank you for the donations and “love offerings” when my husband and I were fundraising for a wheelchair-accessible van. Thank you for making sacrifices of your own to help my family out. Thank you for every thoughtful word, look, gesture, gift, etc.  They didn’t go unnoticed or unappreciated. “Thank you” could never convey the depth of my love or the magnitude of the gratitude that I feel for you, but please know that I am honored to have someone like you in my life, and I thank God for all the people that I can call “friend.”

    Sponsored By
    Angela Wrigglesworth

    Finding New Hope: Living, Learning and Teaching with SMA

    Teaching highly-energetic elementary school students is not the easiest job; but to me, it’s the best job. The kids I teach are curious, intelligent and helpful, so when I explain that I have spinal muscular atrophy (SMA) at the beginning of each new school year, it creates an amazing bond between the students and me. For them, I am proof that they can accomplish anything that they put their minds to. When I was diagnosed with Type 2 SMA in 1979, I was only 16 months old. I could crawl, but couldn’t fully walk, which concerned my family. After a muscle test, SMA was determined as my official diagnosis. SMA is a genetic progressive neuromuscular disease that affects one in every 10,000 babies. As my family researched the disease further, they learned that I may have a shorter life expectancy, and that there were no available treatments. Luckily, I had a remarkable doctor, who told my parents to go home and raise me as they would any other child. And they did just that. Over time, I noticed that people would talk to my mother when trying to address me, instead of directly to me, which my parents also picked up on. My mom would always let people know that I had a voice and was capable of answering on my own. These experiences taught me to advocate for myself at a young age, and it only grew from there. In 1982, when I was five years old, I started attending a camp where I could be around other kids living with SMA. For the first time, I was surrounded by others who shared my experience. Then, when I started sixth grade, I got my first power chair. I was so excited – it gave me a level of independence that I never had before. I remember once when I was eagerly heading to class (a true teacher in the making), I cut a corner and nearly turned it on its side! As I got older, my ambitions continued to grow. In college, I became the first wheelchair user to participate in a sorority rush, and I advocated for better accessibility throughout the entire campus. In addition to pursuing a degree in elementary education, I started competing in pageants in 2004, and won the Ms. Wheelchair Texas title that year. I continued to advocate for others with SMA, and I harbored a hope that science would advance and lead to a treatment. I just didn’t think it would happen in my lifetime. Several years ago, I was invited to speak at a muscular dystrophy science conference in Las Vegas, where I met a lead researcher for a potential treatment. He said that in five years one would exist. I couldn’t believe my ears and will never forget how amazed I felt in that moment. Sure enough, he was right! Within the past few years, scientific breakthroughs have allowed for multiple treatment options for people with SMA. At the start of the pandemic, I began teaching virtually. Around that time, I heard about the approval of a treatment called Evrysdi ® (risdiplam), and after speaking with my neurologist, I decided to start taking it. The medicine was approved in the U.S. for the treatment of SMA in adults and children two months of age and older, and I can take it daily at home. Since starting the treatment in October 2020, I haven’t looked back. I feel like my body is responding well to it based on small changes I’ve noticed, and my neurologist agrees that I am doing well.* When I think about what my family must have felt when I was diagnosed with SMA as a baby, and then look at where I am today, I’m so thankful for the beautiful life I’ve built. As a teacher, an advocate, and someone who has experienced hardships but continued to find new hope, I want all of my students to understand just how much they are capable of achieving. Maybe they will be the next school teacher, or perhaps they will be the next scientist to develop more groundbreaking treatments for people who need them. I hope that by sharing my story, my students and others in the SMA community will feel the same hope that I do for the future. *In one of the clinical trials for Evrysdi (SUNFISH), motor function improved in children and adults with Type 2 and Type 3 SMA after taking Evrysdi for 12 months (average 1.36-point increase on the Motor Function Measure [MFM-32] scale compared with an average 0.19-decrease for those not taking Evrysdi). SUNFISH is a two-part study of children and adults with later-onset SMA. Part two includes 180 people and is measuring the safety and effectiveness of Evrysdi at the recommended dose (n=120), compared with those not taking Evrysdi (n=60). This includes 128 people with Type 2 SMA and 52 with Type 3 SMA. The main measurement was the change in motor function, as assessed on MFM-32, after 12 months of treatment, compared with those not taking Evrysdi. What is Evrysdi? Evrysdi is a prescription medicine used to treat spinal muscular atrophy (SMA) in adults and children 2 months of age and older. It is not known if Evrysdi is safe and effective in children under 2 months of age. Important Safety Information Before taking Evrysdi, patients should tell their healthcare provider about all of their medical conditions, including if they: are pregnant or plan to become pregnant. If patients are pregnant, or are planning to become pregnant, they should ask their healthcare provider for advice before taking this medicine. Evrysdi may harm one’s unborn baby. are a woman who can become pregnant: Before patients start their treatment with Evrysdi, their healthcare provider may test them for pregnancy. Because Evrysdi may harm one’s unborn baby, one’s healthcare provider will decide if taking Evrysdi is right for them during this time Patients should talk to their healthcare provider about birth control methods that may be right for them. Patients should use birth control while on treatment and for at least 1 month after stopping Evrysdi are an adult male planning to have children: Evrysdi may affect a man’s ability to have children (fertility). If this is of concern to patients, they should make sure to ask a healthcare provider for advice are breastfeeding or plan to breastfeed. It is not known if Evrysdi passes into breast milk and may harm one’s baby. If patients plan to breastfeed, they should discuss with their healthcare provider about the best way to feed one’s baby while on treatment with Evrysdi Patients should tell their healthcare provider about all the medicines they take, including prescription and over-the-counter medicines, vitamins, and herbal supplements. Patients should keep a list of them to show their healthcare provider and pharmacist when they get a new medicine Patients should receive Evrysdi from the pharmacy as a liquid that can be given by mouth or through a feeding tube. The liquid solution is prepared by the patient’s pharmacist. If the medicine in the bottle is a powder, do not use it. The patient should contact their pharmacist for a replacement Avoid getting Evrysdi on one’s skin or in one’s eyes. If Evrysdi gets on one’s skin, wash the area with soap and water. If Evrysdi gets in one’s eyes, rinse one’s eyes with water The most common side effects of Evrysdi include: For later-onset SMA: fever diarrhea rash For infantile-onset SMA: fever diarrhea rash runny nose, sneezing, sore throat, and cough (upper respiratory infection) lung infection constipation vomiting These are not all of the possible side effects of Evrysdi. For more information on the risk and benefits profile of Evrysdi, patients should ask their healthcare provider or pharmacist. Patients may report side effects to the FDA at 1-800-FDA-1088 or http://www.fda.gov/medwatch . Patients may also report side effects to Genentech at 1-888-835-2555. Please see the full Prescribing Information for additional Important Safety Information.

    'Born for Business' Docuseries Features Disabled Entrepreneurs

    Docuseries from the Emmy Award-winning creators of “Born This Way,” Bunim/Murray Productions, as well as Shopify Studios, begins streaming on Peacock and CRAVE on August 23 A powerful docuseries that spotlights the untold stories of four entrepreneurs with disabilities, “Born for Business” gives viewers an insider’s look at what it takes to launch and run a thriving small business. Just as each entrepreneur is on the brink of success, they must navigate the complications the COVID-19 pandemic presents. Chris Triebes of The Congregation Presents is a single father with spinal muscular atrophy (type III) who is making waves in the music industry with his concert production company, two venues, and music festival ticket service. He said he was interested in appearing on “Born for Business” due to the lack of representation of people with disabilities “who have a disproportionately low voice” in media, especially when it comes to portraying stories of proactive business owners making their own opportunities and succeeding. He laments the often-repeated tropes of pitied people with disabilities who are painted as helpless or unresourceful. “I want to help normalize disability,” he said in a conversation with the disability advocacy nonprofit RespectAbility. “I think I can be someone who’s good for that.” The show also features: Qiana Allen of Culture’s Closet, a fashionista with lupus who opened a plus-sized boutique, which quickly became one of America’s top plus-size clothing stores; Collette Divitto of Collettey’s Cookies, a baker with Down syndrome who owns a successful cookie brand that employs people with disabilities; and Lexi Zanghi of Always Reason, a millennial entrepreneur with anxiety who runs a three-year-old fashion brand that will soon expand to its first physical location. “For too long, people with disabilities have been shut out of the workplace,” said Jonathan Murray, Bunim/Murray Productions. “With ‘Born for Business,’ we are showing how people with disabilities have long been using entrepreneurship to create an economic livelihood for themselves.” According to the Bureau of Labor Statistics, people with disabilities are self-employed at a rate nearly twice that of their nondisabled peers. That is because people with disabilities, by definition, often need to find new and less traditional paths to success. In fact, as of the 2019 American Community Survey, approximately 700,000 workers with disabilities were self-employed, enjoying the flexibility and opportunities that entrepreneurship provides. That leads to determination and innovation – key features of “Born for Business” – and what viewers need as society enters unprecedented times. Approximately 70 percent of people with disabilities want to work and thousands could become entrepreneurs if they can develop their skills and access capital. “Born for Business,” which features talented and diverse entrepreneurs with disabilities, creates a paradigm shift for people with disabilities because it is authentic and shows what people with disabilities can achieve. At the same time, it does not sugar coat it. It shows stories of resilience and innovation that will have universal appeal as they are perfectly timed for a moment when people are struggling to get past the challenges of this time. “We’re creating a world where entrepreneurship is accessible for everyone,” said Harley Finkelstein, President, Shopify. “We are elevating these untold stories of entrepreneurship to show the power of entrepreneurship to make dreams a reality.” “Born for Business” is produced by Shopify Studios and Bunim/Murray Productions, the Emmy Award-winning creators of “Born This Way.” Tobi Lütke, Pam Silverstein, Gil Goldschein, Jonathan Murray, Julie Pizzi, Erica Ross, Jonathan Stern, and Laura Korkoian serve as executive producers and Jacob Lane and Millee Taggart-Ratcliffe serve as co-executive producers. All 10 episodes of “Born for Business” will stream on Peacock (USA) and CRAVE (Canada) starting August 23, 2021.

    Sponsored By

    My Unexpected Journey: Raising Two Girls With Spinal Muscular Atrophy

    In 2013, I accepted a position to teach college English in China. I moved my then-12-year-old son halfway around the world on a temporary, fun adventure. Just weeks after arriving, I began volunteering at an orphanage and my heart quickly started to connect to the children I was taking care of – one in particular, Laila, changed my life. Laila was beautiful. She was 16 months old, and I immediately noticed something special about her. The other kids around her appeared unaware of the meager conditions at the orphanage, while Laila seemed distressed by them. But that wasn’t all that was unique about Laila. She had a visibly weak body, which the orphanage said was cerebral palsy (CP). Even when I wasn’t with her at the orphanage, she began consuming my thoughts and even my dreams. God gave me a passion to serve and help this precious girl, though at the time, adopting her was impossible. What was possible was fostering her. With permission from the local orphanage to foster her temporarily, I petitioned the Chinese government to create her necessary paperwork to make her eligible for adoption. During this time, I prepared my own paperwork as a prospective adoptive parent in the hopes that our paperwork would “meet” at the proper time. During the 22 long months this process took, there was no guarantee that Laila would be my daughter permanently, only that she would be eligible to have “a” family. Thankfully, we were ultimately able to officially adopt her and move back to the U.S. From the moment I began fostering Laila, I spent all my free time researching CP, trying to find ways to help her build strength. Yet as I learned more about CP, I started to question her diagnosis. It didn’t seem to fit with many of the symptoms Laila showed. Eventually, I stumbled upon a documentary featuring a man with spinal muscular atrophy (SMA), and I noticed many similarities between him and Laila. In May of 2014, when Laila was three-and-a-half years old, she was officially diagnosed with Type 2 SMA by a pediatric neurologist. SMA is a progressive neuromuscular disease that affects one in every 10,000 babies. The diagnosis explained so many things for us and began a new chapter for our family. As thankful as I was to have the right diagnosis, I worried about the future because, at that time, there were no available treatments for SMA. It was the #1 deadly genetic disease of children under two. A couple of years into Laila’s diagnosis, we had learned so much about SMA and particularly about SMA in adopted children who had faced life without proper intervention in their early years. That’s why, when we heard about Maizey, another child from China who also had Type 2 SMA, we felt equipped to bring her into our family. She had been adopted by a family in the U.S., but they were unprepared to provide the level of care she needed. At seven years old, Maizey weighed only 24 pounds. Her health was declining, and she had lost her ability to perform everyday functions, such as sitting up or moving. Thankfully for my family and all families affected by SMA, research into treatments has advanced in great ways. Last summer, Evrysdi ® (risdiplam) was approved in the U.S. for the treatment of SMA in adults and children two months of age and older. The girls started treatment with Evrysdi, and we are so thankful to have this at-home daily treatment option. The girls are doing well, and their neurologist is happy with their improvements on their physical assessments, which are based on measurements of motor function.* When first bringing Laila and Maizey into our family, many doctors gave us their apologies that there were no treatments and told us to enjoy the short time we’d have together. But the recent advancements in SMA give me hope. And if my story is any guide, the future can hold wonderful surprises. I could have never anticipated being a mom to five children, four adopted with disabilities, but I’m thankful everyday that I followed my heart to each of my beautiful daughters. * In one of the clinical trials for Evrysdi (SUNFISH), motor function improved in children and adults with Type 2 and Type 3 SMA after taking Evrysdi for 12 months (average 1.36-point increase on the Motor Function Measure [MFM-32] scale compared with an average 0.19-decrease for those not taking Evrysdi). SUNFISH is a two-part study of children and adults with later-onset SMA. Part two includes 180 people and is measuring the safety and effectiveness of Evrysdi at the recommended dose (n=120), compared with those not taking Evrysdi (n=60). This includes 128 people with Type 2 SMA and 52 with Type 3 SMA. The main measurement was the change in motor function, as assessed on MFM-32, after 12 months of treatment, compared with those not taking Evrysdi. What is Evrysdi? Evrysdi is a prescription medicine used to treat spinal muscular atrophy (SMA) in adults and children 2 months of age and older. It is not known if Evrysdi is safe and effective in children under 2 months of age. Important Safety Information Before taking Evrysdi, patients should tell their healthcare provider about all of their medical conditions, including if they: are pregnant or plan to become pregnant. If patients are pregnant, or are planning to become pregnant, they should ask their healthcare provider for advice before taking this medicine. Evrysdi may harm one’s unborn baby. are a woman who can become pregnant: Before patients start their treatment with Evrysdi, their healthcare provider may test them for pregnancy. Because Evrysdi may harm one’s unborn baby, one’s healthcare provider will decide if taking Evrysdi is right for them during this time Patients should talk to their healthcare provider about birth control methods that may be right for them. Patients should use birth control while on treatment and for at least 1 month after stopping Evrysdi are an adult male planning to have children: Evrysdi may affect a man’s ability to have children (fertility). If this is of concern to patients, they should make sure to ask a healthcare provider for advice are breastfeeding or plan to breastfeed. It is not known if Evrysdi passes into breast milk and may harm one’s baby. If patients plan to breastfeed, they should discuss with their healthcare provider about the best way to feed one’s baby while on treatment with Evrysdi Patients should tell their healthcare provider about all the medicines they take, including prescription and over-the-counter medicines, vitamins, and herbal supplements. Patients should keep a list of them to show their healthcare provider and pharmacist when they get a new medicine Patients should receive Evrysdi from the pharmacy as a liquid that can be given by mouth or through a feeding tube. The liquid solution is prepared by the patient’s pharmacist. If the medicine in the bottle is a powder, do not use it. The patient should contact their pharmacist for a replacement Avoid getting Evrysdi on one’s skin or in one’s eyes. If Evrysdi gets on one’s skin, wash the area with soap and water. If Evrysdi gets in one’s eyes, rinse one’s eyes with water The most common side effects of Evrysdi include: For later-onset SMA: fever diarrhea rash For infantile-onset SMA: fever diarrhea rash runny nose, sneezing, sore throat, and cough (upper respiratory infection) lung infection constipation vomiting These are not all of the possible side effects of Evrysdi. For more information on the risk and benefits profile of Evrysdi, patients should ask their healthcare provider or pharmacist. Patients may report side effects to the FDA at 1-800-FDA-1088 or http://www.fda.gov/medwatch . Patients may also report side effects to Genentech at 1-888-835-2555. Please see the full Prescribing Information for additional Important Safety Information.

    Sponsored by
    Juan Morales

    SMA Doesn’t Hold Me Back – It Propels Me Forward

    My name is Juan, but I’m also known to many as a Rebel in a Wheelchair. When I was 2 years old, my parents found out I had spinal muscular atrophy (SMA). At the time of the original diagnosis my parents were told I had Type 1 SMA, the most severe form of this rare genetic disease, and wouldn’t live past age 5. Despite this news, my parents hoped for the best and kept my condition a secret from me – even when physicians later re-diagnosed me with Type 2, a less severe form of SMA. They showed me unwavering positivity, love and smiles, and raised me to believe I could do anything I put my mind to without limitations. As a 36-year-old adult, I now look back and believe that growing up in this supportive environment was part of the reason why I did live past the age of 5. For all I knew, I was just a regular kid, living a regular life. For a bit of background on SMA, people living with the disease do not produce enough survival motor neuron (SMN) protein, which can cause an irreversible loss of motor neurons and progressive muscle weakness. Of the most common forms of SMA, Type 1 is the most severe and can potentially impact breathing and swallowing abilities, and Type 3 being a less severe form that can affect walking abilities. 1 In my personal experience with SMA, I started using a wheelchair when I was very young, though I never saw it as a limitation. I liked to think of it as my personal vehicle for exploring the world – a transportation system to take me wherever I wanted to go, not to keep me from places. Still, it wasn’t always easy for me to keep a positive outlook, especially as I entered my teenage years and began coming to terms with the reality of my disease. I tried talking to healthcare professionals about managing my SMA, but at the time, there weren’t any options available to help slow the progression of the disease. I felt frustrated, sad and even betrayed by my parents for telling me I could grow up to pursue my dreams. I became aware of the fact that my doctors and family felt I wasn’t going to live long enough to accomplish anything worthwhile. Unable to envision my future, I was angry at anyone without a disability who could live a so-called “normal” life. Eventually, my angst turned into a full-blown rebellion that led to a downward spiral. It took hitting rock bottom to realize I needed to make some serious changes and take back control of my life and future. I have since pursued a career as a clinical psychologist, life coach and transformational speaker to help at-risk teens achieve their full potential. Helping these young people overcome their hurdles has brought me so much joy in life. With this positive shift in my outlook, I decided to reinvestigate steps I could take to potentially slow down the progression of my SMA. I had heard about SPINRAZA ® (nusinersen) , the first prescription medication approved to treat children and adults with SMA, but had held off on trying it because initially I worried that it wouldn’t work or that I might experience side effects. Please see full Prescribing Information and Important Safety Information to learn more about SPINRAZA. However, after experiencing a pinched nerve that caused a temporary loss of function in my left arm, I realized that without intervention, my disease could eventually lead to a permanent loss of motor function. That’s when I talked to my neurologist about SPINRAZA. We discussed what a treatment plan would look like and he outlined the potential risks, like monitoring for bleeding and kidney damage and common side effects including lower respiratory infection, fever, constipation, headache, vomiting, back pain and post-lumbar puncture syndrome. For me, the benefits outweighed the risks and I began treatment with SPINRAZA in 2017. Since then, I believe I have maintained motor function and even gained new muscle strength. I feel like I can squeeze my hands tighter and keep my head steadier, even in the car; these small advances have made a world of difference for me. This of course has been my personal experience and individual results may vary. Today, I love my life and feel immensely grateful to my family for supporting me at every step of my journey – even when times were tough. I’m excited about the future, too. I’ve developed wonderful friendships and met my girlfriend, with whom I hope to have a family one day – this is really important to us. I also continue to meet with my physician to track my progress and discuss my treatment plan. My physician also talks to me about the latest data in SMA, which for me is another reason why I stay on SPINRAZA. As a 36-year-old, it is important to me that there are adult data becoming available on SPINRAZA. Over the years, I’ve learned that sharing my story in counseling is one of the most powerful tools for inspiring change in my clients. This led me to write and publish my first book, ” REBEL in a Wheelchair,” which I hope will help me reach even more people. My message to anyone out there living with a disability is this: Try to focus on how the universe has blessed you. If you are already going to stand out, why not stand out in a beautiful way? INDICATION SPINRAZA ® (nusinersen) is a prescription medicine used to treat spinal muscular atrophy (SMA) in pediatric and adult patients. IMPORTANT SAFETY INFORMATION Increased risk of bleeding complications has been observed after administration of some similar medicines. Your healthcare provider should perform blood tests before you start treatment with SPINRAZA and before each dose to monitor for signs of these risks. Seek medical attention if unexpected bleeding occurs. Increased risk of kidney damage, including potentially fatal acute inflammation of the kidney , has been observed after administration of similar medicines. Your healthcare provider should perform urine testing before you start treatment with SPINRAZA and before each dose to monitor for signs of this risk. The most common possible side effects of SPINRAZA include lower respiratory infection, fever, constipation, headache, vomiting, back pain, and post-lumbar puncture syndrome. These are not all the possible side effects of SPINRAZA. Call your healthcare provider for medical advice about side effects. You may report side effects to FDA at 1-800-FDA-1088. Before taking SPINRAZA , tell your healthcare provider if you are pregnant or plan to become pregnant. Please see full Prescribing Information . This information is not intended to replace discussions with your healthcare provider. References: Cure SMA. Types of SMA. Available at https://www.curesma.org/types-of-sma/ . Accessed: March 2021. SPZ-US-4070 04/2021

    Sponsored By
    Maylan Chávez

    How Living with a Disability Made Me an Advocate for Inclusivity

    I love going to concerts, but it’s been extremely difficult to experience them from the front row. I have a rare genetic disorder called spinal muscular atrophy (SMA) that causes severe and progressive muscle weakness. I need to use a power wheelchair to get around, and most concert venues don’t even offer accessible seating on the floor near the stage. While this may not affect me every day, it has always been an example of the many small luxuries people living with disabilities don’t have the opportunity to experience. My love for music has inspired me to start a nonprofit that will help make concerts more accessible for fans like me – and it is just one of the many things I hope to accomplish despite the challenges of my SMA. My journey with SMA began around the time my family immigrated to the United States from Cuba, when I was just over 1 year old. When I came down with a bad case of the flu, doctors ran a series of diagnostic tests that revealed I had SMA Type 2. SMA is a progressive, degenerative disease that affects one in 11,000 births 1 and can cause an irreversible loss of motor neurons. Those living with SMA don’t have a healthy amount of survival motor neuron (SMN) protein in their bodies. SMN protein is critical in maintaining motor neurons that allow people to sit or walk and is also responsible for supporting basic functions like breathing and swallowing. Despite the shock of my diagnosis, my mom went to the library to learn everything she could about SMA and the resources available to our family. She became a strong advocate for me, overcoming language barriers while fighting to ensure I was included in general education at school – even physical education – rather than segregated in special programming. She even worked with my elementary school to build ramps and fix sidewalks so I could get into the building. While I couldn’t always do things like other children my age, my mom still found ways for me to be involved. She taught me to advocate for inclusivity from a young age, and I’ve carried this mindset with me into adulthood. Up until 2016, there was no treatment for SMA. That changed with SPINRAZA ® (nusinersen) , the first approved treatment for children and adults who live with SMA. Please see full Prescribing Information and Important Safety Information for more information about SPINRAZA. I was naturally excited when I heard about SPINRAZA but wanted to learn more from my doctor about how it is administered, the side effects I could experience, and how I’d be able to access it through insurance. My doctor explained that SPINRAZA is administered via intrathecal injection, which means that the treatment is given in the lower back and goes directly in the central nervous system. Then my doctor also outlined the potential serious risks and common side effects, including lower respiratory infection, fever, constipation, headache, vomiting, back pain and post-lumbar puncture syndrome. Taking all of this into consideration and knowing that if I didn’t slow down the progression of my disease, I would continue to lose motor function, I decided the potential benefits outweighed the risks. I attended my first SMA conference in Orlando, where I met a variety of amazing adults with SMA who already had experience with SPINRAZA, and this was encouraging to me. While I started treatment in 2019 to preserve my motor function and slow disease progression, I’ve also noticed that I’ve gained muscle strength to do things like opening food containers and drawing a straight line without lifting the pencil off the paper. Of course, as individual results on SPINRAZA may vary, keep in mind that your experiences may be different than mine. Some may see my SMA as a setback, but I disagree. I have big dreams about what I want to accomplish in life and continue to make them a reality. I graduated from college with a degree in psychology, and through my studies and work in disability and inclusion, I’ve come to understand that all us humans share a mutual experience. I believe that every person desires to live and be loved, be happy and pursue their dreams. Unfortunately, the disabled community is still very limited when it comes to these simple truths. I am determined to play a role in creating more equality for the disabled community in terms of job options, salaries, the type of personal care assistance one receives, among many other things. Although there is no cure for SMA, I am inspired by those I have met with SMA and hope to focus on accessibility issues as my way to help others. Just as my mother did years ago at my school, one of my goals is to work with concert venues to help fans like me access front-row experiences when seeing their favorite bands. I know this is one area where I can help make a difference. INDICATION SPINRAZA ® (nusinersen) is a prescription medicine used to treat spinal muscular atrophy (SMA) in pediatric and adult patients. IMPORTANT SAFETY INFORMATION Increased risk of bleeding complications has been observed after administration of some similar medicines. Your healthcare provider should perform blood tests before you start treatment with SPINRAZA and before each dose to monitor for signs of these risks. Seek medical attention if unexpected bleeding occurs. Increased risk of kidney damage, including potentially fatal acute inflammation of the kidney , has been observed after administration of similar medicines. Your healthcare provider should perform urine testing before you start treatment with SPINRAZA and before each dose to monitor for signs of this risk. The most common possible side effects of SPINRAZA include lower respiratory infection, fever, constipation, headache, vomiting, back pain, and post-lumbar puncture syndrome. These are not all the possible side effects of SPINRAZA. Call your healthcare provider for medical advice about side effects. You may report side effects to FDA at 1-800-FDA-1088. Before taking SPINRAZA , tell your healthcare provider if you are pregnant or plan to become pregnant. Please see full Prescribing Information . This information is not intended to replace discussions with your healthcare provider. SPZ-US-4068 04/2021 Reference Cure SMA. About SMA. Available at https://www.curesma.org/about-sma/ . Accessed: February 2021.

    Sponsored by
    Alyssa Jones

    Celebrating the Small Wins on My Daughter’s Journey With SMA

    My 11-year-old daughter Lucy is many things: an artist, a writer, an inventor. She also happens to have spinal muscular atrophy (SMA), a genetic disorder affecting the motor neuron cells in the spinal cord, which are key for muscle development and movement. Like many people who have not been personally affected by SMA, I had no idea what this disorder was until Lucy was diagnosed at 18 months old. Since that day, my husband and I have done everything in our power to help our daughter live the most “normal” and loving life possible. Getting to where we are now has been a learning process for all of us. In the first year of Lucy’s life, my husband and I went about our days just as any new parents would – excited, exhausted and filled with joy. It wasn’t until Lucy was around 9 months old that her daycare teacher mentioned something seemed off. Lucy wasn’t crawling or trying to stand like the other infants her age. At first, we didn’t feel too worried about it; we were new parents and didn’t know what to expect in terms of baby milestones. However, we started watching her at home and noticed she wasn’t putting a lot of weight on her legs, so we took her to the pediatrician. He told us that everything was fine, but we decided to get a second opinion. That second opinion landed us in physical therapy (PT), where we were told that Lucy’s symptoms were only an issue with muscle tone. When we stopped PT after a few months, Lucy’s condition drastically declined. We knew then something was seriously wrong and brought her for tests at our local children’s hospital, where doctors finally diagnosed her with Type 2 SMA at 18 months old. SMA is a rare genetic disease that causes severe, progressive muscle weakness and affects one in every 11,000 live births. 1 The most common form of SMA is caused by inheriting a mutated survival motor neuron 1 ( SMN1) gene from each parent, of which my husband and I both happen to be carriers. Individuals with SMA do not produce enough motor neuron (SMN) protein, which is critical for the maintenance of motor neurons that support sitting, walking, and feeding. Lucy’s diagnosis was incredibly challenging for our family, and I still tear up thinking about that time. But as parents, we had to power through and provide Lucy with what she needed to live her fullest life. At the time, there was no treatment for SMA, so this meant years of working with the specialists that we were seeing regularly to find a viable option to help preserve her motor function for as long as possible. After Lucy’s diagnosis, I joined several SMA groups and heard about SPINRAZA ® (nusinersen) , the first prescription medication approved to treat children and adults with SMA. Please see full Prescribing Information and Important Safety Information for more information about SPINRAZA. Although it was still in clinical trial phase at the time, I was excited about the future prospect of a treatment for Lucy. So, I reached out to her neurologist expressing our interest in SPINRAZA. When it was approved by the Food and Drug Administration (FDA) in 2016, I was ecstatic. From that point on, I made daily calls to everyone on Lucy’s care team, from her doctors to the insurance carrier. Sometimes, it can be difficult to get a treatment approved by insurance companies, which can require additional testing or documentation. Luckily for me, as a medical billing specialist, I understand the ins and outs of insurance as a part of my job and knew what the process would entail. We knew there were some risks in pursuing SPINRAZA as a treatment option for SMA; Lucy could experience side effects from the medication and from the procedure to receive it, along with increased risk for bleeding and kidney damage. The most common side effects of SPINRAZA include lower respiratory infection, fever, constipation, headache, vomiting, back pain, and post-lumbar puncture syndrome. However, even with these risks, the alternative was much worse for our family – if Lucy’s SMA was untreated, she would continue to lose motor function. So, we persisted. I needed to get this treatment for my daughter, and eventually, I succeeded. The three years since Lucy started on SPINRAZA have been a journey marked by small wins. Lucy opened a door for the first time. She has been able to push through her legs and lift herself off her seat. By October 2020, Lucy had gone one full year without hospitalization for the first time – a huge milestone for us. Of course, this is just our experience – others may vary. As Lucy has gotten older and curious about her SMA, we have started talking more openly with her about the side effects surrounding her disease. To accommodate her around the house, we recently installed a smart speaker system and were surprised to hear her asking increasingly tough questions to research SMA. She’s a very intelligent girl who understands the breadth of her disease, even if she keeps her emotions close to the chest sometimes. My husband and I did not get tested before having Lucy, however, once we got pregnant with my son Lucas, we tested in utero. We confirmed that Lucas is a carrier but does not have SMA. Growing up, Lucas has always helped care for Lucy and comes up with ways to include her in his playtime without being told. As parents, we know he will have different milestones than Lucy – like tying his shoes or showering on his own – but it feels like Lucas raised himself to be a brother to someone living with SMA. Lucas and Lucy even have a special phrase they created to help in conversations with their friends and kids their age. They just say that Lucy’s muscles don’t work the same as other kids’ muscles; that’s why she needs a wheelchair. My advice to parents who may find themselves suddenly confronting their child’s SMA diagnosis is to consider all options. As hard as it is to accept, don’t fight recommendations for intervention. It can be hard to say that your child needs help. We fought against it at first, and I only wish we had started sooner for Lucy. Lucy doesn’t feel stigmatized by her wheelchair; she sees herself as an 11-year-old who likes drawing and art, unicorns and galaxies – someone who gets excited to spend the summer at science camp. For Halloween, I used to think of ways to incorporate her wheelchair into our family costumes. Recently, she told me her wheelchair is just a wheelchair; it doesn’t have to be a costume. As a parent, you can’t ask for more than the opportunity to see your child grow into someone who loves and accepts herself. INDICATION SPINRAZA ® (nusinersen) is a prescription medicine used to treat spinal muscular atrophy (SMA) in pediatric and adult patients. IMPORTANT SAFETY INFORMATION Increased risk of bleeding complications has been observed after administration of some similar medicines. Your healthcare provider should perform blood tests before you start treatment with SPINRAZA and before each dose to monitor for signs of these risks. Seek medical attention if unexpected bleeding occurs. Increased risk of kidney damage, including potentially fatal acute inflammation of the kidney , has been observed after administration of similar medicines. Your healthcare provider should perform urine testing before you start treatment with SPINRAZA and before each dose to monitor for signs of this risk. The most common possible side effects of SPINRAZA include lower respiratory infection, fever, constipation, headache, vomiting, back pain, and post-lumbar puncture syndrome. These are not all the possible side effects of SPINRAZA. Call your healthcare provider for medical advice about side effects. You may report side effects to FDA at 1-800-FDA-1088. Before taking SPINRAZA , tell your healthcare provider if you are pregnant or plan to become pregnant. Please see full Prescribing Information . This information is not intended to replace discussions with your healthcare provider. References: Cure SMA. About SMA. Available at https://www.curesma.org/about-sma/ . Accessed: February 2021. SPZ-US-4066 03/2021

    Siblings of Medically Complex Children Are Awesome

    I read a Facebook post today that stated, “Siblings of medically complex children are extraordinary.” I agree wholeheartedly with that sentiment, especially when I think of my daughter. As the oldest of two children, my daughter takes on responsibilities that her brother doesn’t, either because of his age or due to the severity of his disability. But that doesn’t seem to bother her. She once told me, “I’m your biggest helper,” and she was right. However, I don’t think my daughter, or anyone else for that matter, knows the extent of the ways she positively impacts her brother’s life or mine. For instance, my daughter has brought me tissues and tried to dry my eyes [for me] many times over the years, even though I was attempting to grieve in private. She worries and seeks to comfort me when I am in distress — even if I am crying in the shower. My daughter has told me, with the confidence of innocence, on countless occasions, mostly when her little brother was at his sickest, “Don’t be sad, Mom. Everything will be OK.” My daughter once confessed, “I prayed to God because I was so scared!” because she didn’t know if her brother was going to survive his latest hospitalization or not, but she believed in the power of prayer and that God would answer hers. He did. My daughter has spent so many days hanging out at the hospital with her brother and me that she has memorized all the floors and walkways to get to the various clinics and wards in the massive facility. Hence, she takes pride in pushing the buttons on the elevator or directing us to our destinations. My daughter quietly listens as I speak to her brother’s doctors, and then, when we are alone, she asks me questions to gain further understanding of the confusing and serious things the doctors and I discussed that day. My daughter still plays with dolls, and sometimes I catch her doing “medical play” as she tries to process her life out loud. Her use of medical jargon is impressive in its scope and accuracy. My daughter always responds with, “That’s OK, Mom, it’s not your fault,” when I have to cancel another fun outing or break another promise to her because something with her brother came up that took precedence over our previous plans or because I was just too tired to do anything above the bare minimum that day. She understands our life is often exhausting and hard on the heart, mind, body and soul. When the 8:00 p.m. alarm goes off every night, my daughter jumps up from the couch to grab her brother’s bedtime medications and the container of water to mix with his overnight G-tube feeds to take them back to his bedroom for me. My daughter has always enjoyed being part of her brother’s care whenever and however she can, even if she doesn’t want to play with him anymore because she is a teenager now. My daughter has developed an anxiety disorder due to all that she has seen and experienced firsthand, and she has a morbid fascination with and fear of death. The last time she brought up death, she said, “When you die, you’re just gone, and then no one talks about you anymore.” It hurts to know that my daughter’s childhood has been just as traumatic as her brother’s, especially because my daughter has disabilities of her own, like autism, to deal with. But, I am grateful to see how our life has helped to shape my daughter into a kind, compassionate, helpful, protective and tender-hearted person. May that never change. I said all that to say this: siblings see and go through so much, and they deserve to be recognized for what they endure and for the sacrifices they make too.

    How Rare Disease Day Helps to Destigmatize Disability

    “ Your retarded boy is lucky that you don’t put him away [in an institution]. That’s what they do in my country. ” Shocked speechless by the comment and unsure if it was supposed to be a compliment or not, all I could do was stare after the elderly man as he got up and walked away from the bench we had been sitting on, side by side. That was my first encounter with someone that viewed disability as a shameful disgrace that needed to be hidden from polite society, but sadly, it was far from my last. Living on an island, far away from home, made me have to reach out to other military spouses for support after my son’s diagnosis. Unfortunately, when the rubber met the road, and I took people up on their offers of help, I discovered that most people we knew were afraid to get involved. One friend in particular flat out told me, “ Your life is too sad. I cannot be friends with you anymore.” I appreciated her honesty, even though it hurt because I would have been even more devastated if she would have disappeared from my life without an explanation. However, I cannot help but wonder how different our relationship would have turned out if she had taken the time to learn that regardless of my son’s visible disability, he was still a normal kid on the inside. My son has the same hopes and dreams as other little boys his age and is worth getting to know as a person. Over the years, I have had multiple disturbing run-ins with people who were afraid of, didn’t understand, or were unable to recognize disability. For instance, once, I had an angry note left on the windshield of my van stating, “ Don’t look physically handicap to me. Have a nice day! ” I couldn’t help but burst into tears when I read those words. The person that watched me lift my terminally ill and completely disabled child out of the vehicle parked in the accessible parking spot overlooked an important detail that day. I was strapping my son into an adaptive stroller (i.e., a wheelchair) when children his age usually walked independently — I guess they didn’t know that kids could be disabled too. Likewise, strangers have had no qualms stopping me while shopping to tell me that my son was too old to be in a “stroller” and that I should not encourage his laziness. Little did they know that my son would like nothing better than to walk on his own, but that’s wasn’t possible no matter how many times people reprimanded him or scolded me. Even well-meaning church members have not hesitated to dish out painful and unsolicited advice like, “ If you believed enough, then your son would be healed ” without considering for a second the mental or spiritual damage that those words could cause. There is nothing wrong with my faith. If I did not have the hope that Christ offers, then I would have become lost in grief a long time ago. However, I know that sometimes bad things happen to good people, even kids, and not everything can be prayed away. Also, “No” is an answer too. I think people forget that fact. Now that my son is older and his physical disabilities are more pronounced, the number of harsh parenting critiques I get has lessened significantly. Unfortunately, people have switched gears and gone the opposite route by choosing to avoid looking at or talking to my son or me instead. Why? Why do people’s responses to disability have to be so unpleasant and extreme? Why is society, to include the military population, repulsed by or ashamed of people with disabilities? Also, how do we change that? I think the answer is simple — exposure. People only know what they know. They cannot grow as individuals or gain new perspectives if they are never introduced to topics that make them think. As such, I have made it a personal goal to help destigmatize disability by talking about it with people of all ages, whether verbally or through my writings. Speaking of advocating for the disability community, I like to use opportunities like Rare Disease Day (which takes place on the last day of February each year) to raise awareness about conditions that most people have never heard about, like my son’s condition, spinal muscular atrophy. Unique calendar events like Rare Disease Day allow me and others like me that are involved in the disability community to initiate conversations that will hopefully positively impact the hearts and minds of those that hear our words. I want to appeal to anyone else directly or indirectly associated with the disability community to use opportunities like Rare Disease Day to do the same. Do not be afraid to speak up and share your stories. The only way to change the narrative that disability is ugly is to show your friends, family, or strangers how it can be beautiful, too, despite the challenges. Silence breeds shame; let’s stop shame from spreading and infecting the next generation by doing our part as fellow human beings to support the inclusion and acceptance of people with disabilities or rare conditions across every spectrum of life.