Spinal Muscular Atrophy

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.

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.

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

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.

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