Your SMA success plan: Creating a personalized care strategy
Setting up your care plan for spinal muscular atrophy (SMA) is one of your first steps toward effectively managing this neuromuscular disorder.
Keep in mind that how SMA affects your or your child’s daily life will evolve over time. For this reason, a care plan should take disease progression into account and address your changing physical and emotional needs.
Managing SMA usually involves a multidisciplinary healthcare team and includes complementary therapies such as physical, occupational, and speech therapy, and respiratory care, along with assistive devices and looking after your mental health.
The level of care needed may vary depending on the symptoms you may be experiencing and the specific type of SMA that you or your child has. The main forms of SMA are type 0, type 1, type 2, type 3, and type 4.
It’s important to speak with healthcare professionals familiar with SMA as soon as possible after your diagnosis. Your healthcare team can determine the right treatment for your SMA type, your condition, and your personal preferences.
“To have someone on your team sitting across from you and or your child, who knows what SMA is, what causes it, the pros and cons of treatments, the non-pharmacological care, the physical therapy aspect, the pulmonary aspect, all add up to the best care possible,” says Edward Smith, MD, a clinical neurologist who ran the Duke University children’s neuromuscular program in Durham, North Carolina.
It’s also important to talk with your care team about planning for healthcare emergencies. This may encompass knowing where to go in a medical emergency, including when you and your family are traveling, and keeping an up-to-date record of your current treatment plan handy.
Setting up an SMA care team
While SMA symptoms can vary from person to person, generally they involve a loss of function in skeletal muscles that are responsible for movement throughout your body, potentially affecting your ability to breathe, eat, and walk.
When you are setting up your SMA care team, your diagnosing doctor may be your medical point person, with other healthcare professionals becoming part of your medical team as symptoms change over time.
The team could involve specialists from disciplines such as:
- physiotherapy, occupational therapy, speech therapy
- respiratory therapy
- orthopedic surgery
- mental health
- social work
John Weber and Corey Brown’s daughter, Kate Weber, has a multidisciplinary SMA care team at Children’s National Hospital in Washington, D.C.
Diagnosed at 4 months of age with SMA type 1 and treated shortly after with the one-time SMA gene therapy Zolgensma (onasemnogene abeparvovec-xioi), Kate is now 2 and able to sit and eat independently. She’s also quite the chatterbox, according to Brown.
The family depends on the hospital’s SMA team to guide them to the experts Kate may need.
“They have a team of physical medicine, neurology, pulmonology, cardiology, PT, OT, nutrition, speech, all under one umbrella,” Weber says. “We have care coordinators who are excellent that we can shoot questions and pictures to at all hours.”
Depending on your or your child’s needs, you may see experts in physiotherapy, occupational therapy, and speech therapy to improve physical function, promote independence in daily activities, and enhance your communication skills.
Physical therapists (PT) can design personal exercise programs to preserve and improve mobility. For example, exercises may try to prevent muscle contractures and joint stiffness, which are common challenges in SMA.
A PT can teach specific muscle-strengthening exercises to address muscle weakness and prevent scoliosis, spinal deformities. Other exercises target balance and coordination to improve stability, foster safer mobility, and prevent falls. Stretching and massage may help manage pain and discomfort.
While they live in Alexandria, Virginia, Weber and Brown also travel with Kate to Cary, North Carolina, and Spring Hill, Tennessee, for treatment by physiotherapists and occupational and speech therapists who are familiar with SMA.
Your relationship with your care team, especially for children, sets up a level of trust and fosters good communication. For example, Kate has formed a great relationship with her regular physical therapist.
“She keeps it fun and creative and focuses on trying to make physical therapy seem like play more than work for Kate,” says Weber.
An occupational therapist (OT) can develop strategies and adaptations for living with SMA, including activities such as dressing, grooming, bathing, and eating. They may also recommend assistive devices and adaptive equipment such as adaptive utensils and dressing aids.
An OT may recommend modifications to your home environment to enhance accessibility. They also can coordinate with your child’s school to create a more supportive environment.
If you are having difficulty breathing, swallowing, or speaking, your care team may suggest you see a speech therapist, who can work with you to strengthen the muscles involved in talking and swallowing.
A speech therapist may suggest strategies for improving or maintaining safe swallowing and reduce the risk of aspiration –– when food or liquid enters the airways instead of being swallowed.
They also may teach exercises and techniques that enhance the clarity of your speech, such as exercises that strengthen tongue and lip movement.
If SMA starts to affect the muscles involved in breathing, your or your child’s respiratory function may need to be regularly checked by a pulmonologist or respiratory therapist.
You may be taught breathing exercises to strengthen your respiratory muscles or be shown how to use pillows to position yourself during sleep to maintain an optimal breathing position.
If you or your child experience respiratory distress, noninvasive ventilation –– including a BiPap machine, cough assist machine, and high-frequency chest wall oscillation –– can help clear mucus from the lungs.
You may be shown how to identify problems that require in-hospital treatment. For example, your care team may discuss how to plan for dealing with a cold or flu, as they can cause respiratory distress.
Pain management strategies should be tailored to your specific needs and preferences.
Emily Jones, a physical therapy assistant in Fort Worth, Texas, says that while everyone with SMA has different goals, increasing proper core strength and stability to ensure safety and decrease pain are the focus of physical therapy.
“You may work on improving flexibility to increase comfort while sitting in a wheelchair all day,” says Jones, adding that physical therapy will be modified as the patient changes along with their goals and their life situation.
Jones notes caregivers are essential when SMA symptoms have progressed to where more assistance is needed, such as for transfers from wheelchair to bed, grooming, or eating and drinking.
“Caregivers will assist in stretching and weight shifting to reduce risk of pressure ulcers,” she says.
Other techniques to reduce pain and increase comfort include:
- applying heat or cold packs to affected areas to provide relief from muscle stiffness and soreness
- gentle massage therapy for muscle tension and pain, and to improve circulation
- regular stretching exercises to increase flexibility and reduce muscle tightness
- proper positioning in chairs or beds, along with the use of supportive pillows or cushions, to help maintain comfort and prevent discomfort or pressure sores
- nonsteroidal anti-inflammatory drugs or other pain medications as prescribed by healthcare providers to manage pain
- compression socks to reduce swelling and discomfort in feet.
To help with the challenges posed by SMA symptoms, you may find that assistive devices and modifications to your living space can help, especially if you’re dealing with muscle weakness, fatigue, and mobility limitations.
Assistive devices can include:
- mobility aids, from walkers to power wheelchairs
- orthotic devices such as braces
- augmentative and alternative communication devices for speech difficulties
- environmental controls fitted with adaptive switches or voice controls
- computers with voice recognition software
- modified vehicles with wheelchair lifts or hand controls.
Amber Bosselman, who lives in Iowa City, Iowa, was diagnosed with SMA type 2 at 18 months of age. After graduating from college in 2019, she completed an online certification program as a life coach and set up her business virtually.
Bosselman uses her life experiences to help coach people through change. This includes discussing the ways technology can make life easier for someone with a degenerative condition.
For example, she relies on a number of assistive devices in her home, including her power wheelchair and a power bed that allows her to adjust her sleeping angle. Other devices include a BiPAP machine at night to assist in breathing and voice-controlled home assistants such as smart switches.
“I have a special cooking station that my dad set up for me that has an induction cooktop, set at just the right height,” she says.
Bosselman likes to refer to an example of forward thinking to illustrate how SMA can change your body and what bearing that has on the choices you make, especially regarding assistive devices.
When she was younger and had better mobility, her parents insisted she leave her power wheelchair at the front door and use a walker in the house. This was to help maintain her strength and flexibility.
“I didn’t understand why they did that. It was so much easier to use my chair. But they reminded me that if I went to a friend’s house that had stairs, I couldn’t use my chair,” she says. “They had to show me a map of my future, that big picture. As I got older, I understood.”
In general, it’s a good idea to follow general nutrition principles such as including enough fruits and vegetables, whole grains, and lean proteins in your diet, while limiting foods that are sugary or processed.
Beyond that, there are some dietary considerations to take into account when living with SMA.
- Because of the difficulties in doing calorie-burning exercises, it may be easy to gain excess weight.
- It may become harder to chew and swallow food if SMA is causing weakness in the muscles of your jaw and throat.
- Gastroesophageal reflux disease may cause stomach acid to flow back into your esophagus, leading to heartburn.
A dietitian can help you put together a menu of nutritious foods that aren’t high in calories, are soft and easy to chew, or find methods of preparation that make foods easier to swallow. A dietitian also can suggest a low-fat, low-acid diet for reducing heartburn.
Progressive muscle weakness and mobility problems can cause physical discomfort and pose challenges in your daily activities.
These physical symptoms may contribute to emotional distress and frustration. Living with a chronic disease and uncertainty about the future can lead to anxiety and depression.
Better mental health can support better physical health, says Smith, adding there are several key ways to obtain both, starting with having a trusted relationship between you and your doctor.
“As a patient, you need to learn as much about SMA as you can. You have to advocate for yourself. And you need to have balance and respect in your relationship with your doctor,” he says. “That way, you can get through your day with less stress.”
Other suggestions to boost your mental health include:
- Counseling and support groups can offer emotional support and coping strategies. For example, SMA News Today has online forums and a Facebook page for making social connections.
- Practicing relaxation and mindfulness techniques, such as deep breathing and meditation, can reduce stress and anxiety.
- Having a strong support system of family and friends can contribute to resilience and coping.
- Setting realistic goals and celebrating achievements can boost your mood.
Brown and Weber say they’ve achieved more peace of mind by reaching out to other parents of children with SMA. When Kate was first diagnosed with SMA, they learned as much as possible from their healthcare team. Then they started connecting with other parents of children with SMA on social media channels.
“They are going through the same challenges that we are and having to make decisions in terms of care,” Brown says. “We frequently reach out to them and see what their team is telling them and share what ours is telling us, and compare notes. It helps us get through the unknowns. It helps us support Kate better.”
Bosselman’s mental health strategy involves finding a balance between living with SMA and living her life. For example, while she’s diligent about doing her physical therapy exercises, she isn’t as good at keeping up with breathing treatments since it isn’t a major concern for her.
“You have to draw the line somewhere between at what point am I living my life for these things, and at what point are these things helping me live a better life?” she says. “That’s the idea of balance and looking at the big picture. If you can get those two pieces in place, I think you’re set.”
SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
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