Spinal muscular atrophy (SMA) is a neuromuscular disorder that causes muscle weakness throughout your body. While some SMA treatments focus on modifying the genes responsible for the condition, other therapies focus on relieving your disease symptoms. In particular, many people with SMA have breathing problems that require specific treatments.
Respiratory (breathing) care is very important for people with this disorder. Different types of respiratory equipment can help develop your lungs, clear secretions (mucus and fluid) from your airway, ensure enough oxygen is getting into your blood, and help your lungs take deep breaths.
SMA causes you to have muscle weakness. Often, the muscles located near the middle of your body weaken sooner (and to a greater degree) than muscles located further from your body’s center. In particular, muscles in your chest can quickly lose strength. Chest muscles include your diaphragm (the thin muscle beneath your ribs) and the intercostal muscles (the set of muscles in between your ribs).
During normal breathing, your diaphragm and intercostal muscles work together to move air in and out of your lungs. In people with SMA, however, their intercostal muscles are often too weak to function properly. This causes many problems, including:
It is very important to address respiratory problems in anyone with SMA, but it’s particularly the case for children. Breathing difficulties are the number one cause of illness for children with SMA type 1 and SMA type 2. They are also the leading cause of death for children with SMA. However, many tools and treatments now exist to help support their healthy breathing. Effective respiratory care not only helps people with SMA stay as healthy as possible but it also improves their quality of life.
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There are many different types of equipment that can help with the lung or airway problems that people with SMA might encounter. Not every person with SMA will need to use the same therapies. The equipment that you might use depends on your specific respiratory needs and personal preferences.
Doctors who specialize in diagnosing and treating respiratory problems are called pulmonologists or respirologists. People with SMA should see a pulmonologist in order to come up with a respiratory treatment plan and to get help accessing any equipment they need.
Many people with SMA need help breathing. This help, or support, often comes in the form of ventilation equipment, which uses pressure to push air into your lungs.
There are two main types of ventilation support. Noninvasive ventilation equipment remains outside of your body. It includes either a mask that covers the nose or a mask that fits over the nose and mouth. The mask can be removed when you are eating or talking. Conversely, invasive ventilation equipment goes inside of your body. It usually includes a tube that goes into your mouth or into a small hole in the front of your neck. Invasive ventilation devices stay in place permanently. People can often eat or talk with these invasive devices once they get used to them.
Health care professionals often recommend that children with SMA first try noninvasive ventilation (NIV). For people with SMA type 2 or SMA type 3, this type of breathing support is often effective for managing the condition long-term. Some people only need noninvasive ventilation while they are sleeping or when they are sick, while others need to use the equipment more often.
One piece of equipment that may be used for NIV is the bilevel positive airway pressure (BiPAP) machine. This device uses air pressure to keep your airways open. When a person with SMA uses the BiPAP machine, they can breathe in a larger amount of air than they normally could on their own.
Other devices may also be used to help push in or pull out air during noninvasive breathing support. Some people with SMA may need to use mechanical ventilators or “sipper vents” to get enough air.
Studies have found that noninvasive ventilation has several benefits, including:
If NIV doesn’t provide enough breathing support, invasive ventilation may be necessary. This type of therapy may start with a tube that goes into your mouth and down into your lungs. However, long-term invasive ventilation requires a tracheostomy — a small hole in the front of your throat that goes through your windpipe. Doctors place a small tracheostomy tube through the hole and into your lungs, and that tube gets hooked up to an oxygen machine.
Invasive ventilation may come with more drawbacks than NIV. It can place a large burden on your caregivers and families. Additionally, children who receive a tracheostomy may lose their ability to speak. It can be difficult for children who rely on invasive ventilation to attend school or be social. However, invasive breathing support may be very helpful for some children with SMA and severe breathing problems.
Sometimes, mucus naturally fills your lungs or airways. Coughing helps to clear this buildup of fluid as well as all of the particles trapped inside. This helps get rid of germs that cause respiratory infections. However, coughing is often difficult for people with SMA due to weak chest wall muscles.
Some breathing devices can help people with SMA clear their airways. An insufflator-exsufflator device, such as CoughAssist, can simulate the effects of a cough. This device quickly pushes air into the lungs and then pulls it back out again.
High-frequency chest wall oscillation devices, such as the InCourage system and SmartVest, are another type of equipment that can help people with SMA with their coughing. This device is a vest that makes your chest vibrate, which loosens any fluids or mucus in your lungs, and makes it easier to cough those substances out.
When a person with SMA isn’t breathing as well as they need to, their body may not be getting enough oxygen to function properly. A pulse oximeter can determine if that’s the case by measuring the level of oxygen in a person’s blood. A pulse oximeter is a wrap or gentle clamp that sits on your finger or toe to elicit a reading. Low readings may be a sign that you need other respiratory therapies, such as a cough machine. Determine your exact reading parameters by talking with your pulmonologist.
SMA is a very expensive condition to manage. Health care for someone with SMA can often lead to medical costs that are more than 50 times what people without the condition may pay. However, resources exist that can help you access quality respiratory care.
There are many programs and agencies that help people with SMA and their caregivers access free or inexpensive medical equipment. Several of these programs provide donated devices that have been sanitized for someone else to use. Some programs also loan out devices or provide direct financial assistance if you have to use breathing equipment. The programs that can assist you to get these devices vary by state. Some programs may require people with SMA and/or their families to meet certain income thresholds, while other programs are available to everyone.
Some equipment may not be necessary in order for you to have proper respiratory care. There may be alternative inexpensive (or even free) ways to provide breathing support. For example, high-frequency chest wall oscillation devices can be very pricey. However, cheaper chest physiotherapy techniques may be just as effective at removing fluid from your lungs. One such option is for a caregiver to place a person with SMA into different positions that expose their back or chest. Once in position, the caregiver gently claps on (or pats) certain areas of your chest or back. This is called postural drainage with manual percussion. Your caregivers can learn how to perform these techniques properly with the help of your health care team.
On mySMAteam, the social network for people with spinal muscular atrophy and their loved ones, 1,300 members come together to ask questions, give advice, and share their stories with others who understand life with SMA.
Are you living with SMA? Are you looking into options for respiratory equipment? Share your experiences in the comments below, or start a conversation by posting on mySMAteam.