Spinal muscular atrophy (SMA) is a neuromuscular disorder that causes progressive muscle weakness and loss of motor function. SMA can affect young children, adolescents, adults, and their loved ones. People with SMA often face obstacles to starting — and sticking with — effective treatment. Understanding all of your options and resources is an important first step in the treatment decision-making process.
The three medications approved by the U.S. Food and Drug Administration (FDA) for spinal muscular atrophy are among the most expensive drugs in the world. Even excluding the cost of these drugs, SMA is already a very expensive rare disease — annual health care costs for someone with SMA type 1 are estimated at $137,627 per year. However, there are programs in place that can help more people access potentially lifesaving SMA treatment options.
It is worth noting that, although a health insurance program may cover one of the medications approved for SMA, some insurance carriers may place limitations on coverage such as proof of symptoms or disease progression, specific genetic testing results, or age limits other than those specified by the FDA label.
In April 2019, the influential Institute for Clinical and Economic Review (ICER) issued a report recommending that manufacturers lower the prices of Spinraza and Zolgensma.
According to one study of 1,476 Americans with SMA, the median distance to the nearest SMA treatment center was just over 54 miles. People with SMA living in rural areas had to travel much farther — a median distance of 200.1 miles. Over 70 percent of those who participated in the study reported a high burden of travel to access their nearest treatment center. The cost of travel can also be a factor, especially for those who require air travel and hotel accommodations.
Cure SMA’s Find a Location mapping tool makes it easy to find the nearest clinic offering treatment for SMA for children or adults. ClinicalTrials.gov offers a simple search tool to locate clinical studies for SMA near you.
Travel can be challenging with SMA due to mobility issues and the need to transport medical equipment, such as BiPAP systems. Here are a few tips that can help make travel with SMA easier:
Many supportive therapies can help people with SMA stay their healthiest and feel their best, but most of them require sticking to a routine, often on a daily basis. Adherence to treatment is defined as following a doctor-recommended course of medications, diet, exercise, or other treatments just as prescribed. However, adherence to supportive therapy can prove difficult for people with SMA due to symptoms like fatigue, sleep disturbances, and pain in the back and chest. In adolescents and adults with later-onset SMA, disengagement from health care is common and can further impact adherence.
For people with SMA, adherence to treatment might include:
Despite evidence that these therapeutic routines are effective, many people with SMA have trouble sticking to them. With the advent of SMA medications that can potentially extend life, adherence to rehabilitative therapies may become more important than ever to restore function, maintain abilities, and improve quality of life.
In chronic conditions in general, 80 percent of people drop out of chronic care management plans prescribed by their doctors. Here are four tips to improve treatment adherence:
Set up a system of reminders to keep you organized. If you’re comfortable with technology, there are smartphone apps designed to help people manage treatment regimens. You can also take a low-tech approach using sticky notes and tying therapy practices to daily activities, such as meals. For instance, you could complete physical therapy exercises before lunch each day.
Scheduling out regular events that happen a few times a year, such as checkups or Spinraza administrations, can help prevent you or your child from missing an important appointment. It may be helpful to keep your calendar scheduled six or more months in advance with two-week reminders as appointments approach — perhaps more notice if a long journey is required.
The ultimate goal of therapy is to maintain function and keep you feeling your best, but it can be hard to stick with therapy if it feels uncomfortable when you’re doing it. If you find it difficult to stick with physical therapy due to pain, or you avoid using your BiPAP due to dry mouth or sinus congestion, ask your doctor for ways to manage the discomfort.
Connect with others who have SMA, either in a face-to-face support group or in online communities like mySMAteam. Set your goals together for therapy and hold each other accountable for following through. Support each other when it’s difficult and cheer each other on when goals are met.
In recent years, researchers have begun to focus on ways to improve quality of life and mental health for people with spinal muscular atrophy. A 2019 study from the journal Disability and Rehabilitation emphasizes the importance of an “autonomy supportive” approach to health care for people with SMA. Ideally, each person with SMA will have access to a patient-centered, multidisciplinary team of health care professionals who support them in setting and achieving realistic goals and overcoming barriers.
According to the Institute for Clinical and Economic Review, the approval of Spinraza is expected to improve access to SMA treatment in many ways. Spinraza provided motivation for the U.S. Health and Resources and Services Administration (HRSA) to add spinal muscular atrophy to the Recommended Uniform Screening Panel for newborn screening. With early identification of babies with SMA, awareness and understanding of the condition will become more widespread among health care professionals. ICER predicts a revolutionary improvement in the infrastructure of care for SMA.
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