SMA
A Journey of Hope & Strength
Receiving an SMA diagnosis is overwhelming, but you are not alone. Medical advancements have transformed what's possible, and a strong support system is ready to help your family navigate this path with confidence.
FDA-Approved Therapies
Targeting the genetic cause of SMA to change its course.
Unaffected Intellect
SMA does not impact cognitive ability or intelligence.
Strong Local Team
Specialized care is available right here in Colorado Springs.
Understanding the Diagnosis: SMA Type 3
For an 11-year-old, a diagnosis is almost certainly SMA Type 3. This is a milder form where children learn to walk independently. While muscle weakness is a challenge, life expectancy is typically normal, and modern treatments can help preserve function.
The Genetic Cause
SMA is caused by a faulty SMN1 gene. This gene is responsible for producing a protein vital for motor neurons—the nerve cells that control muscles. Without enough protein, these neurons weaken.
The "Backup" Gene
Fortunately, a "backup" gene called SMN2 also makes a small amount of this protein. People with more copies of SMN2, like those with Type 3, have milder symptoms. Modern therapies work by making this backup gene more effective.
Key Outlook
SMA does not affect your daughter's intelligence, learning ability, or senses. The focus of care is on preserving physical strength and maximizing her independence and quality of life.
A New Era of Treatment
While there is no cure, SMA is highly treatable. The goal of therapy is to increase SMN protein levels to protect motor neurons and slow or stop disease progression. For your daughter's age, there are two excellent, FDA-approved options.
Shared Goal: Boost Protein
Both treatments work by making the SMN2 "backup" gene more productive, increasing the supply of essential protein for motor neuron health.
Building Your Daughter's Multidisciplinary Care Team
Comprehensive SMA care is a team effort. A group of specialists will work together to support your daughter's health, well-being, and independence. Click each role to learn more.
Click a role to see how they contribute to the team.
Empowering Your Daughter at School & Home
Your Local Colorado Springs Resources
You have access to world-class care and strong support networks right here in Colorado. These organizations are your next step.
Children's Hospital Colorado
The primary hub for specialized SMA care in the region, with a Neuromuscular Program in Colorado Springs. They administer SMA treatments and are involved in clinical trials.
4125 Briargate Pkwy, Colorado Springs
Visit WebsiteCure SMA
The largest nonprofit for SMA. They offer support packets, an equipment loan program, and connect you with a community of other families.
National Support: 800-886-1762
Visit WebsiteMuscular Dystrophy Association
Provides comprehensive care resources and community education. The regional MDA Care Center is located at the University of Colorado in Aurora.
Regional Care Center (Aurora)
Visit Website
A Comprehensive Guide to Spinal Muscular Atrophy for Newly Diagnosed Families
Part 1: Understanding the Diagnosis
A diagnosis of Spinal Muscular Atrophy (SMA) can be an overwhelming experience, but it is important to know that the medical landscape for this condition has changed dramatically in recent years. This report provides a detailed overview of SMA, its underlying science, and a path forward for managing this condition. The goal is to provide a comprehensive, authoritative, and compassionate guide to help families navigate this new journey with clarity and confidence.
The Underlying Cause: A Genetic Overview
Spinal muscular atrophy is a genetic condition caused by a mutation in the survival motor neuron 1 (SMN1) gene.1 This gene is essential for producing a protein called survival motor neuron (SMN) protein, which is critical for the function and maintenance of motor neurons.1 Motor neurons are the nerve cells in the spinal cord that send signals from the brain to the muscles, allowing for voluntary movements. When the
SMN1 gene is mutated or missing, the body produces an insufficient amount of SMN protein, which leads to the death of motor neurons.1 Without the signals from these neurons, muscles cannot contract, and they begin to weaken and waste away.1
Fortunately, humans also have a second gene, the survival motor neuron 2 (SMN2) gene, which acts as a “backup”.2 While the
SMN2 gene produces only a small amount of the full-length, functional SMN protein, it does provide a crucial source of this protein.1 The number of copies of the
SMN2 gene a person has plays a significant role in determining the severity of the condition.1 Individuals with more copies of the
SMN2 gene tend to have a milder, later-onset form of SMA, as their bodies can produce a greater amount of the necessary SMN protein.1 This relationship between the number of
SMN2 gene copies and disease severity is not merely a scientific observation; it is the fundamental principle that guides the development and efficacy of modern SMA therapies.
Pinpointing the Diagnosis: SMA Type 3 (Juvenile Onset)
SMA is classified into different types based on the age of onset and the highest motor milestones achieved.5 For an 11-year-old, the diagnosis almost certainly falls under Type 3, also known as juvenile SMA or Kugelberg-Welander disease.7 Symptoms of Type 3 SMA typically begin after 18 months of age, though they can manifest as late as the teenage years.4
A key characteristic of Type 3 SMA is that patients are able to walk independently at some point, which distinguishes it from more severe types.4 However, muscle weakness, particularly in the legs, is a primary symptom, and many individuals may eventually lose the ability to walk and require a wheelchair.6 Other common symptoms include tremors, difficulty with mobility and climbing stairs, and a tendency to fall.6 The progressive muscle weakness can also lead to orthopedic issues like scoliosis (curvature of the spine).5
For a parent, a diagnosis of SMA can provoke fear and uncertainty, especially after reading about the most severe forms of the condition. However, a critical distinction for Type 3 SMA is its relatively positive prognosis. It is considered a milder form, and patients with this type generally have a near-normal life expectancy.9 The later the symptoms develop, the better the overall outcome for motor function.8 Understanding this favorable long-term outlook is an essential first step in moving forward with a sense of cautious optimism.
A Note on Cognition and Intellect
An important point of reassurance for any parent is that spinal muscular atrophy is a motor neuron disease that does not affect sensory nerves or intellect.5 This means that the condition does not cause learning disabilities. On the contrary, it has been noted that many individuals with SMA are highly intelligent.8 The daughter’s ability to learn, think, and engage intellectually is entirely unaffected by SMA. This information is particularly important for an 11-year-old who is at a critical stage of her academic and social development.
Part 2: Navigating Modern Treatments and Hope
The question of whether SMA is “curable or treatable” is a fundamental concern. While there is not yet a complete cure for SMA, the condition is now highly treatable. The loss of motor neurons is irreversible 7, but recent medical advances have introduced a new era of therapies that can stop or significantly slow disease progression, changing the natural history of SMA.7 The goal of modern treatment is to protect the remaining motor neurons and stabilize function, which can lead to a dramatically improved quality of life.7
The Three FDA-Approved Therapies for SMA
The U.S. Food and Drug Administration (FDA) has approved three treatments for SMA that target the genetic cause of the disease.10 Understanding the differences between these therapies is crucial for making an informed decision about a treatment path.
Nusinersen (Spinraza)
Nusinersen, marketed under the brand name Spinraza, was the first FDA-approved medical treatment for SMA and represented a significant breakthrough.11 This medication works by modifying the
SMN2 backup gene to increase its production of the full-length, functional SMN protein.2
Spinraza is approved for use in both pediatric and adult patients with genetically confirmed SMA.10 It is administered via an injection into the spinal canal (intrathecal injection) in the lower back.11 The treatment regimen begins with four initial “loading” doses over the first two months, followed by a “maintenance” dose every four months for the rest of the patient’s life.10 Due to its method of administration, a child may need to be sedated to ensure they remain still during the procedure.11 As with any medication, there are potential side effects, and regular laboratory monitoring is conducted to assess for coagulation abnormalities and elevated urine protein levels.16
Risdiplam (Evrysdi)
Risdiplam, or Evrysdi, is a daily oral medication that also works by targeting the SMN2 gene.10 Its mechanism increases the efficiency of the
SMN2 gene, causing the body to produce a sufficient amount of SMN protein.10 A key advantage of
Evrysdi is its oral administration, which means it can be taken at home after a meal.17 It is approved for use in children and adults of all ages.10 This medication provides a non-invasive alternative to intrathecal injections and offers flexibility in treatment administration.
Onasemnogene Abeparvovec (Zolgensma)
Onasemnogene abeparvovec, known as Zolgensma, is a one-time gene therapy.3 This therapy uses a non-pathogenic viral vector (AAV9) to deliver a new, working copy of the human
SMN1 gene to the motor neurons.3 This allows the cells to produce the SMN protein that is missing due to the original genetic mutation.18 The therapy is designed to be a single intravenous (IV) infusion that takes about an hour.3
A critical point to understand is that Zolgensma’s current FDA approval is limited to pediatric patients under two years of age with SMA.14 While gene therapy is a revolutionary concept, this age restriction means it is not an option for an 11-year-old. It is important to clarify this to manage expectations, as many parents may have heard about “one-time gene therapy” and its promise. This therapy is a groundbreaking milestone for the SMA community, but for a newly diagnosed 11-year-old, the focus will be on the other approved treatments that are available to her.
|
Therapy Name (Brand & Generic) |
Mechanism of Action |
Administration Method |
FDA-Approved Age Range |
Key Considerations |
|
Nusinersen (Spinraza) |
Increases production of functional SMN protein from the SMN2 gene. |
Intrathecal (spinal) injection, administered every 4 months after initial loading doses. |
Approved for all ages.10 |
Requires lifelong injections and regular laboratory monitoring.11 |
|
Risdiplam (Evrysdi) |
Increases production of functional SMN protein from the SMN2 gene. |
Daily oral medication, taken at home.10 |
Approved for all ages.10 |
A non-invasive alternative to injections, must be taken daily.10 |
|
Onasemnogene Abeparvovec (Zolgensma) |
Delivers a new, working copy of the SMN1 gene. |
One-time intravenous (IV) infusion.10 |
Approved for children under 2 years old.14 |
Not an option for an 11-year-old.14 |
Part 3: The Multidisciplinary Approach to Comprehensive Care
The management of SMA extends far beyond medication alone. It is a complex, lifelong condition that requires a holistic, multidisciplinary approach to care.16 This model involves a team of healthcare professionals working together to manage symptoms, maximize function, and improve quality of life. The pediatric neurologist typically acts as the central hub, coordinating the care provided by other specialists.20
Building Your Daughter’s SMA Care Team
The following specialists are integral members of an SMA care team:
- Pediatric Neurologist: This specialist oversees the overall care plan, from confirming the diagnosis to selecting and administering treatment and monitoring its effectiveness. The neurologist is the primary point of contact for the family and coordinates the involvement of other specialists.16
- Physical and Occupational Therapists: These therapists are crucial for maintaining strength, flexibility, and independence. A physical therapist (PT) helps with exercises to maintain range of motion and prevent painful joint contractures, provides gait training to improve walking safety and efficiency, and may recommend adaptive equipment like walkers, standers, or wheelchairs.4 An occupational therapist (OT) focuses on increasing independence in daily activities, such as dressing, eating, and using a computer.20 They may also help with home and school modifications.21
- Pulmonologist and Respiratory Therapists: Breathing difficulties are a common concern in SMA. A pediatric pulmonologist and respiratory therapist will proactively monitor respiratory function and may recommend devices to assist with breathing and clearing airways. These devices can include a cough-assist machine, which helps clear secretions, or a BiPAP machine, which provides breathing support, particularly during sleep.6
- Orthopedic Specialist: As scoliosis is common in SMA, an orthopedic specialist will monitor the spine and joints. They may recommend bracing or, in some cases, surgery to correct severe spinal curves and improve posture and breathing.6
- Dietitian and Speech-Language Pathologist: These professionals address issues with chewing and swallowing, which can be a concern with SMA.6 A speech-language pathologist can evaluate swallowing safety and a dietitian ensures the child receives proper nutrition for growth and energy while avoiding aspiration.10 In some cases, a feeding tube may be necessary.24
- Child Psychologist or Counselor: A diagnosis of a chronic condition can be emotionally taxing for both the child and the family. A psychologist or counselor can provide valuable emotional support and coping strategies.20
Tools for Independence: A Guide to Assistive Technology and Home Life
Assistive technology (AT) and home modifications are vital for helping an individual with SMA live a rich, independent life. The wide range of available devices should not be seen as a sign of loss, but rather as tools that enable greater autonomy and participation in daily activities.23
- Mobility Aids: Mobility devices are a cornerstone of SMA management. A physical therapist can recommend the right tools, which may include manual or power wheelchairs, walkers, or standing frames.21 A power wheelchair, for example, can be a tool for “greater independence” rather than a limitation, and children as young as 18 months can learn to use them.23 Braces, also known as orthoses, can be used to support weak limbs, improve joint alignment, and help with standing.22
- Home and School Modifications: Occupational therapists can assist in identifying necessary modifications to home and school environments. Simple changes like installing handrails or grab bars, or more significant ones like installing an automatic door opener, can greatly improve accessibility and safety.21 The availability of smart home technology, such as voice-activated lights, thermostats, and security cameras, can also provide a greater sense of control and independence.17
- Other Devices: Devices such as an assistive robotic arm or an assisted feeding device can help with tasks that require fine motor skills and strength.25 For respiratory care, at-home devices like a pulse oximeter can be used to monitor oxygen levels, and cough-assist or BiPAP machines may be necessary to support breathing.23
Part 4: Empowering Your Daughter at School and Beyond
An 11-year-old’s life is deeply integrated with school and social activities. Helping her succeed in this environment is a crucial aspect of her care plan.
Navigating School: From IEPs to Accommodations
For a student with a chronic condition like SMA, proactive communication with the school is essential. It is “imperative that educational professionals who work with students with SMA be aware of their diagnosis, needs and abilities”.27 The federal government mandates a free and appropriate education for all children with special needs, which is facilitated through an Individualized Education Program (IEP) or a 504 Plan.17 As a parent, input in this process is invaluable.28
The IEP is a formal document that outlines the child’s educational goals, the specific services they will receive, and the accommodations needed to ensure their success.28 The report will likely detail the related services from physical and occupational therapists, as well as adapted physical education, where the goal is recreation rather than competition.27
Specific accommodations that can be requested through an IEP or 504 plan include:
- Providing an extra set of textbooks to be kept at home to prevent the child from having to carry heavy books.27
- Ensuring easy access to elevators in multi-level schools.27
- Arranging a modified class schedule that minimizes walking distances between classes to reduce muscle fatigue.27
- Utilizing assistive technology for written assignments, such as voice dictation systems.27
- Implementing preferential seating in the classroom to improve accessibility.27
- Developing a specific Emergency Evacuation Plan that accounts for the child’s physical needs.27
The parent’s role in this process is that of a legal advocate, ensuring the school fulfills its obligations. It is important to know that a parent does not have to sign an IEP they do not agree with.28
Fostering Independence and Advocacy
The ultimate goal of all care and support is to enable a person to live a long, independent life.29 As an 11-year-old, this is the perfect time to empower the daughter to understand her condition and become her own advocate.
Practical strategies to foster independence include encouraging her to participate in her own care decisions, such as which adaptive devices she finds most useful, or which adaptive sports she would like to try.17 As she becomes a teenager, she may be able to manage her daily medication herself if she is taking an oral treatment like
Evrysdi.17 Looking ahead, it is also important to note that IEPs and 504 plans do not extend to college, so preparing her to advocate for herself in a higher education setting will be a key skill to develop.17
Part 5: Local Resources in Colorado Springs and Colorado
Accessing high-quality medical care and community support is crucial for managing SMA. The Colorado Springs area and the broader state of Colorado have a number of excellent resources.
SMA-Specific Clinical Care in the Pikes Peak Region
The most significant local resource is the Neuromuscular Program at Children’s Hospital Colorado. This hospital is the “only hospital in the region with this type of clinic,” making it the primary hub for specialized SMA care in Colorado Springs and the surrounding area.30 The program has over 30 years of experience and follows national consensus care guidelines.30 The team is actively involved in clinical trials for new SMA treatments and is currently administering
Spinraza.30 The hospital also has a nationally recognized pathway for scoliosis surgery, which is a key consideration for many individuals with SMA.30 The presence of providers who serve on national advisory boards, such as Anne Stratton, MD, a pediatric physiatrist, and Melissa Gibbons, a genetic counselor, confirms that the care at Children’s Hospital Colorado is on the leading edge of SMA research and clinical management.31
For local care, the following medical professionals are affiliated with the Neuromuscular Program and are located in or near Colorado Springs:
- Dr. Mario Coleman, MD: A pediatric neurologist with a primary location at Children’s Hospital Colorado Specialty Care at 4125 Briargate Pkwy, Colorado Springs.32
- Dr. Kathleen Currey, MD: A pediatric neurologist with locations at Children’s Hospital Colorado, Colorado Springs and Memorial Hospital Central.33
Community and Support Networks
A strong support network can provide invaluable guidance and a sense of community. Several national organizations have a strong presence and resources available to families in Colorado.
- Cure SMA: This is the largest nonprofit organization dedicated to SMA.34 Cure SMA offers a nationwide support system and has local chapters that provide personalized support and opportunities to connect with other families.34 The organization provides newly diagnosed families with information packets and care packages, which include age-appropriate toys and helpful resources.36 Cure SMA also hosts educational events called “Summits of Strength” that bring together national and local experts to discuss the latest in treatment and care.34 For assistance, a support team can be reached at (800) 886-1762 or communitysupport@curesma.org.36
- Muscular Dystrophy Association (MDA): The MDA is a major voluntary health organization that provides comprehensive care and resources for people with neuromuscular diseases.29 The MDA Care Center for the region is located at the University of Colorado, Denver, in Aurora, and its staff can assist with nutritional and medical issues.13 The MDA also provides a national resource center and offers recreational programs.29
- Online Support Groups: Peer-led support groups on social media platforms like Facebook can be a valuable way to connect with other families. Cure SMA lists several treatment-specific groups for SMA.12
|
Resource Name |
Type of Resource |
Location/Contact Information |
Key Services Provided |
|
Children’s Hospital Colorado Neuromuscular Program |
Clinical Care |
4125 Briargate Pkwy, Colorado Springs, CO 80920. Phone: 720-777-2806 |
Diagnosis and management of SMA, administration of Spinraza, clinical trials, and nationally recognized scoliosis care.30 |
|
Cure SMA |
Patient Advocacy and Support |
National offices at 800-886-1762 or communitysupport@curesma.org |
Information packets, care packages, equipment loan program, local chapters, and educational events like Summits of Strength.34 |
|
Muscular Dystrophy Association (MDA) |
Patient Advocacy and Support |
Regional Care Center at University of Colorado, Denver, Aurora, CO. Phone: 720-848-2080 |
Care centers, resource hub, community education, and recreation programs.13 |
Conclusion
The diagnosis of spinal muscular atrophy marks the beginning of a new journey, but it is a journey now filled with far more hope and possibility than ever before. While SMA is not curable, it is highly treatable. The development of three FDA-approved therapies has created a new paradigm of care, where the focus is on preserving motor function and stabilizing the condition.
The most critical first step is to consult with a neurologist to determine the most suitable treatment path. Concurrently, assembling a multidisciplinary care team will be crucial for managing the varied aspects of the condition and maximizing the daughter’s independence and quality of life. This includes physical and occupational therapy, respiratory care, and nutritional support.
For a parent of an 11-year-old, the focus on empowering her at school and in daily life is paramount. By leveraging an Individualized Education Program (IEP) and adaptive technology, she can continue to thrive academically and socially. Finally, the availability of specialized clinical care at Children’s Hospital Colorado and robust community support networks from organizations like Cure SMA and the MDA means that a strong, informed, and compassionate support system is available locally to guide the family every step of the way.
Works cited
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- Genetics – Cure SMA, accessed August 13, 2025, https://www.curesma.org/genetics/
- Mechanism of Action | ZOLGENSMA® (onasemnogene abeparvovec-xioi), accessed August 13, 2025, https://www.zolgensma-hcp.com/about-zolgensma/moa
- Spinal Muscular Atrophy (SMA) – Lurie Children’s, accessed August 13, 2025, https://www.luriechildrens.org/en/specialties-conditions/spinal-muscular-atrophy/
- Spinal muscular atrophy (SMA) – NHS, accessed August 13, 2025, https://www.nhs.uk/conditions/spinal-muscular-atrophy-sma/
- Signs and symptoms of spinal muscular atrophy (SMA), accessed August 13, 2025, https://www.togetherinsma.com/en_us/home/introduction-to-sma/sma-symptoms.html
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- Medical Management – Spinal Muscular Atrophy (SMA) – Diseases, accessed August 13, 2025, https://www.mda.org/disease/spinal-muscular-atrophy/medical-management
- Spinal Muscular Atrophy | ASGCT – American Society of Gene & Cell Therapy |, accessed August 13, 2025, https://patienteducation.asgct.org/disease-treatments/sma
- Treatments for Spinal Muscular Atrophy – Northwestern Medicine, accessed August 13, 2025, https://www.nm.org/conditions-and-care-areas/neurosciences/neuromuscular-program/spinal-muscular-atrophy/treatments
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- Type 3 SMA: Helping Your Child Stay Independent – WebMD, accessed August 13, 2025, https://www.webmd.com/children/t3-sma-independence
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- The SMA Community | ZOLGENSMA® (onasemnogene abeparvovec-xioi), accessed August 13, 2025, https://www.zolgensma.com/connecting-with-the-sma-community
- Care Approaches, accessed August 13, 2025, https://hcp.togetherinsma.eu/en/home/what-is-sma/care-approaches-what-is-sma.html
- Occupational Therapy for SMA – mySMAteam, accessed August 13, 2025, https://www.mysmateam.com/treatments/occupational-therapy
- 5 Types of SMA Physical Therapy and Tips for Success | mySMAteam, accessed August 13, 2025, https://www.mysmateam.com/resources/physical-therapy-for-sma-how-to-get-the-most-out-of-pt
- Specialized equipment for spinal muscular atrophy – SMA News Today, accessed August 13, 2025, https://smanewstoday.com/specialized-equipment-for-spinal-muscular-atrophy/
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- University of Colorado, Denver – Muscular Dystrophy Association (MDA), accessed August 13, 2025, https://www.mda.org/clinic/university-of-colorado-denver