Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by progressive degeneration of motor neurons in the spinal cord. The disorder causes weakness and wasting of the voluntary muscles. Weakness often is more severe in the legs than in the arms (National Institute of Neurological Disorders and Stroke [NINDS], 2007). One in 6,000 babies born will be diagnosed with SMA (Monani, 2005), and one in 40 Americans carries the gene that causes SMA. SMA is the most common fatal neuromuscular disease of infancy and the third most common diagnosis of neuromuscular diseases seen in clinics for children younger than 18 years of age (Hirtz et al., 2005). The gene for SMA has been identified, and accurate diagnostic tests exist. There are three common types of childhood SMA. SMA type I, the most severe, has the highest incidence of the three types, and children with it rarely survive past 2 years of age. SMA type II and type III are the more prevalent types (Hirtz et al., 2005).
SMA type I, also called Werdnig‐Hoffmann disease, is evident before birth or within the first few months of life. There may be a reduction in fetal movement in the final months of pregnancy. Symptoms include floppiness of the limbs and trunk, feeble movements of the arms and legs, swallowing and feeding difficulties, and impaired breathing. Affected children never sit or stand and usually die before age 2 (NINDS, 2007).
Symptoms of SMA type II usually begin between 3 and 15 months of age. Children may have respiratory problems, floppy limbs, decreased or absent deep tendon reflexes, and twitching of arm, leg, or tongue muscles. These children may learn to sit but will never be able to stand or walk. Diaphragm muscles often are too weak to sustain adequate oxygenation during sleep, and support may be needed. Scoliosis is common among these children and often warrants surgical intervention. Life expectancy varies depending on the degree of respiratory involvement (NINDS, 2007).
SMA type III, also called Kugelberg‐Welander disease, appears between 2 and 17 years of age and includes abnormal gait; difficulty running, climbing steps, or rising from a chair; and slight tremor of the fingers (NINDS, 2007). Children diagnosed with type III can lose the ability to ambulate later in childhood, adolescence, or adulthood. The loss of ambulation often is associated with growth spurts, illness, or an injury that results in decreased muscle use over a period of time. For example, a broken leg bone necessitating a cast, crutches, or a wheelchair for some time can result in increased atrophy and the inability to regain muscle strength in the affected area.
SMA has received little attention from researchers studying neurodegenerative diseases (Monani, 2005). A literature review revealed no studies that examined any aspect of living with the disease. No previous attempts have been made to describe the experience of living with SMA or to identify strategies for successful living. The nature of this disorder leaves individuals wrestling with an unknown course. It is a progressive disorder, highly individualized, and difficult to manage. Current research is focused on finding a medical treatment and a cure. However, many individuals in our society are living with SMA. Accurately describing the experience of living with this disease and reporting strategies used to maximize that experience are imperative to our understanding of the disease and our attempt to treat this population. The participants in this study have shared knowledge that can help parents of young children who are beginning the same journey. It also may be useful to others diagnosed with SMA and healthcare providers and researchers who are committed to finding effective treatment and an eventual cure for SMA. At present, there is no cure for this genetic disease.
The purpose of this qualitative descriptive study was to describe the experience of living with SMA and identify strategies used by people diagnosed with SMA to optimize living with this debilitating illness.
A qualitative, descriptive design, which is ideal for eliciting straight descriptions of phenomena, was used (Sandelowski, 2000). Five questions were developed to be used as a guide for data collection (Fig 1). These were based on careful reading and consideration of postings by adults living with SMA on the Families of Spinal Muscular Atrophy (FSMA) online discussion forums. FSMA is an international organization dedicated solely to “eradicating SMA by promoting and supporting research, helping families cope through informational programs and support, and educating the public and professional community about SMA” (fsma, 2008). The forums provide an avenue for individuals diagnosed with SMA and their families to discuss the issues relevant to living with this disease.
After having received institutional review board (IRB) approval from the University of Kentucky, we recruited participants through the FSMA Web site (www.fsma.org).
To be included in the study, participants had to be at least 18 years old, diagnosed with SMA type II or type III for at least 6 months, and have the ability to read and write in English. Participants also were required to have an e‐mail address and computer access. Eleven participants were recruited. The demographics are presented in Table 1.
An invitation to participate, including a brief study description and contact information, was posted on multiple discussion forums within the FSMA Web site. These discussion forums are monitored by FSMA moderators, and all participants are required to follow a set of usage rules. Forum participants remain anonymous unless they send a request to the moderator to have their identity revealed. Interested individuals who read the study invitation contacted the forum moderator to request that their e‐mail and contact information be forwarded to the researcher. Contact was then made between the researcher and the interested participant; after this, all communication between the researcher and the participant occurred privately, using the participant's e‐mail rather than the FSMA discussion forum. After a potential participant made contact, the researcher sent an e‐mail containing eligibility criteria and an invitation including all elements of informed consent. Participants then confirmed their eligibility and desire to participate. Dialogue between researcher and participant began.
This study used the Internet and e‐mail communication to collect data. This method of data collection was used to provide access to a more diverse population group, reduce the cost of the study, and expedite data collection.
Data were analyzed using a constant comparative method (Lincoln & Guba, 1985). The following steps guided the analysis. The initial reply to each e‐mailed question was read and carefully examined to identify data of thought‐provoking importance. Initially, margin notes were made and descriptive code markers were placed within the text to indicate data of rich importance. In an effort to collect rich, thick descriptions and ensure prolonged engagement, the researcher asked for clarification and elaboration pertaining to those responses of importance. For example, the researcher might say, “Tell me more about. …” To ensure that the participant's responses were accurately understood, the researcher would reply with a verbatim account of the participant's words and a request to clarify or elaborate on the particular piece of data provided. For example, the researcher would reply, “In your response to question 1, you said…. Are you saying that …?”
As the data collection progressed, interpretive codes were established. Examples of interpretive codes included caring teachers, strong friendships, the ability to adapt and equip, and feeling loved. These interpretive codes led to the identification of emergent categories. The categories included strong relationships, physical challenges, emotional needs, and productive life. The categories were then collapsed into four common themes used by participants to describe the experience of living with SMA. The themes identified were building strong relationships with family and friends, overcoming the physical challenges in order to normalize and mainstream within society, using an innovative approach to manage symptoms, and developing an optimistic life view, thus ensuring meaningful, purposeful life regardless of the challenges. These themes are depicted in the model “The Ladder to Successful Living with SMA” (Fig 2) developed by the researcher. Participants also described the physical and emotional strategies they used to manage their symptoms. These included conserving energy, making proactive health choices, maintaining social involvement, and maintaining optimism.
Reliability and Validity
In qualitative studies, elements of trustworthiness include credibility, transferability, dependability, and confirmability (Lincoln & Guba, 1985). Lincoln and Guba considered member checking to be the most critical technique for establishing credibility. Participants received and responded to one question at a time. Through e‐mail communication the researcher would send the question, wait for a reply, and then ask for elaboration and clarification. This dialogue not only aided in the process of member checking but also provided rich, thick description of the participants' experience of living with SMA. The researcher communicated with each participant a minimum of seven times.
Credibility also was established when the findings were e‐mailed to 3 of the 11 participants to solicit feedback. The intent of this member check was to establish how well the experience of living with SMA had been described. Participants' responses indicated that the findings reported in this study accurately depict living with SMA.
Lincoln and Guba (1985) used the term transferability to imply generalizability of the study findings to other settings, situations, populations, and circumstances. Transferability depends on thick description of the phenomenon being studied. Prolonged engagement that included a minimum of seven contacts with each participant and diversity among the participants helped to ensure the transferability of these findings.
Dependability of the study can be assessed as how well the researcher has reported and documented any change in the study that might affect the outcome. The researcher made one modification, after having received IRB approval from the University of Kentucky. Originally, a lengthy invitation to participate, containing all elements of informed consent, was posted on the FSMA discussion forums. This invitation was so lengthy that it proved difficult to read online, and people did not respond. The invitation was modified and included a brief statement indicating that the study was planned and that individuals meeting certain criteria were being recruited. This modification was successful in recruiting participants.
The experience of living with SMA was described by the participants as challenging and constantly changing. Participants described both physical and emotional strategies for symptom management. One participant shared,
There are many people who really have no clue of the daily struggles there are in living with this disorder…. Some days, I feel (physically) that I've already put in a full day's work by the time I get there (to work)!
People diagnosed with SMA experience a progressive decline in health. A struggle accompanies this progressive loss of strength and consequent fear of losing independence. As one participant shared,
Two of the most significant symptoms of my condition are loss of muscle strength and curvature of spine; the progression of muscle weakness impacts me the most…. I struggle with the fear of what tomorrow, next week, next month, or next year may bring…. I never thought I would struggle feeding myself, and yet today this is a reality I must face.
Another participant observed,
The part that bothers me the most is the progressive nature. If I could just stay stable I would be satisfied with my condition. However, just when I think I've stabilized I go through another period of strength loss that ultimately results in the loss of function. At one point I could transfer myself; I lost that. At one point I could crawl; I lost that. At one point I could roll over in bed; I lost that. At some point I will become too weak to drive, feed myself, etc. That's the tough part of dealing with SMA.
Establishing a Network of Strong Relationships
Participants indicated that having a supportive and caring family made living with SMA more bearable. Participants also described the importance of close friendships and positive relationships with coworkers. A support system that provided encouragement to succeed and the necessary equipment and medical services created an atmosphere that promoted successful living. As two participants shared,
Be socially active, reach out, make many friends, and don't withdraw.
I have an incredible network of family, friends, and coworkers that make my life wonderful, but there are days that I feel so tired it is all I can do to just come home and go to sleep … and hope tomorrow will be a better day.
Normalizing and Mainstreaming Within Society
In describing the experience of living with SMA, participants talked about making an effort to normalize and mainstream within society. To the participants, normalizing meant living independently, engaging in leisure activities, and living like others not affected by SMA. Mainstreaming meant attending college, maintaining gainful employment, and serving as a productive member of society. These were viewed as indicators of successful living with SMA. Participating in organized sports, social events, and family functions also were important to normalizing and mainstreaming. Successfully integrating into a network of people and being able to positively contribute to society were described as part of mainstreaming. Participant responses included the following:
I guess the best advice/strategies I could tell someone is don't let your disability hold you back. Try and do as much as you can on your own so you can still live an almost independent life.
I am self‐directing of my care.
Try to live as normal as possible. I would encourage anyone with SMA to live as normal as possible.
In general, I was never told I was not “normal” and so I never took this SMA issue as a culprit for me not being “normal.” My father was instrumental in encouraging me to be creative and ask questions.
Adopting a Creative and Innovative Approach to Symptom Management
Participants described successful living as requiring creativity and an innovative approach to managing symptoms. Being willing to create a mechanical device or find a way to minimize energy expenditure helped them overcome challenges and improve daily life. For all participants, the ability to think ahead, plan the day, and use available resources improved the quality of their day. Participants indicated that,
Adapting the world around me and finding ways to do what I wanted also probably made me a pretty creative and driven person.
It (SMA) affects everything that I do. I still find a way to do things that need to be done.
Any physical shortcoming can be taken care of by adopting new approaches or gadgets.
I am not afraid to take on gadgets that will enhance my abilities. … I will do what I can to minimize the “orthopedic style” just to make it more fashionable.
Maintaining an Optimistic Life View
All participants described the necessity of developing an “I am in control” attitude. Understanding the effects of SMA and continuing to live a productive life were essential to successful living. Participants wrote about setting reasonable limits and attainable goals. One participant shared,
It has been what my parents have said at such times that sticks in my brain today. Like it's a long way from your heart, it could be worse, or you'll never know unless you try, or if at first you don't succeed, then try, try again, but when all attempts fail then ask for help and wear out the old ones first. It's all these silly phrases that kept me striving ahead and made me feel good even if I didn't get what I wanted.
Other descriptions of this optimistic view included the following:
I never grew up using SMA as a scapegoat for anything bad that may have happened to me.
In the long run, it (SMA) has enabled me to weigh my woes fairly and allow me the wisdom to ask for help when uncertain or afraid. SMA still attempts to vote, but it doesn't rule on how I live my life.
Strategies for Symptom Management
Participants described physical and emotional strategies for symptom management. Physical symptom management included energy conservation and healthy choices. The emotional strategies described included social involvement and optimism. Energy conservation was described as the ability to pace oneself, provide adequate periods of rest, and use methods available for limiting physical requirements. Healthy choices participants identified included choosing rest over exertion, eating meals packed with nutritional content rather than snacking, and minimizing exposure during the cold and flu season. As one participant shared,
Do not overexert or fatigue myself, sleep 8‐10 hours, keep my weight under control, plan my day accordingly so that I do not find myself too weak to do something at the end of the day. Keep warm in the winter, keep active.
Other examples of participant responses included, “The only strategy I use … is to be extremely proactive health‐wise especially related to respiratory ailments” and “Avoid colds, take multivitamins, minimize exposure to sick people.”
The emotional strategies described as important to managing life with SMA included social involvement and optimism. Participants described the importance of social involvement in everyday life. Social involvement was described as staying connected to a circle of coworkers as well as a circle of friends and family. Taking an active role in social engagements and enjoying the company of other people was also described. Maintaining optimism was described as making an attempt to see life from a positive perspective rather than a negative one. Participants maintained optimism by focusing on strengths rather than weaknesses. For these participants, maintaining optimism was made easier by accepting the limitation brought by the disease rather than harboring ill emotions. For example, participants shared, “The two main strategies that have helped me cope were an optimistic approach and being very well organized” and “Don't be bitter, think of myself as lucky, have faith in God.”
Advances in medical research have improved life expectancy and ambulatory status for people diagnosed with SMA. People who have a chronic illness have the challenge of incorporating that illness into their lifestyle (Bostrom & Ahlstrom, 2004). Participants in this study provided some understanding of the experience of living with this progressive neuromuscular disease. In order to assist families and individuals diagnosed with SMA, healthcare workers in research and clinical practice need to understand the experience of living with this debilitating illness. For participants in this study, the experience of living with SMA was enhanced by a supportive social network of family and friends, the ability to normalize and mainstream within society, a creative and innovative approach to symptom management, and the ability to maintain an optimistic life view. To assist families and individuals diagnosed with SMA, nurses in research and clinical practice must understand the experience of living with this debilitating illness.
Participants described the need to establish a network of strong relationships. This network included family, friends, healthcare providers, and coworkers. The role of family and social support has been documented in other chronic disease literature. Hwang, Kim, and Jun (2004) reported the lived experience of women with rheumatoid arthritis. In the study, five women were recruited to describe their experiences. They reported a need for strong support from family, friends, and clergy. They reported drawing strength from people around them. The availability of medical assistance and supportive community resources can mitigate or exacerbate the stress of illness in people with chronic disease (Weis, Fisher, & Baird, 2002).
Participants described the need to normalize and mainstream into society. For these participants, normalizing meant living independently, engaging in leisure activities, and living similarly to others not affected by SMA. Mainstreaming meant attending college, maintaining gainful employment, and being a productive member of society. This finding is similar to those previously noted in the cerebral palsy literature (Michelsen, Uldall, Hansen, & Madsen, 2006). In a study of 416 adults diagnosed with cerebral palsy, it was reported that independent life and integration into society are as important for adults with cerebral palsy as they are for other people (Michelsen et al., 2006). Living independently and being employed promote physical and financial independence; employment, cohabitation, and parenting support social participation for people diagnosed with cerebral palsy (Michelsen et al., 2006). Normalization and mainstreaming are important for maximizing the quality of life of people living with SMA and other chronic illnesses.
Normalization and mainstreaming are important for maximizing the quality of life of people living with SMA and other chronic illnesses.
According to the participants in this study, living successfully with SMA requires creativity and innovation. A similar finding was reported in a study of adults diagnosed with multiple sclerosis (Courts, Buchanan, & Werstlein, 2004). In a focus group study consisting of 10 adults, participants reported using creative solutions to manage their disease. Although multiple sclerosis continuously caused challenges and changes that interfered with their life goals, participants described creative solutions. These solutions included learning to deal with the denial, refocusing priorities, planning activities, and choosing to deal carefully with the controllable issues (Courts et al., 2004).
The participants in this study defined innovation as a creative tool to be used when coping with disease progression. At this point, no other study has reported this finding. For these participants, innovation meant creating new devices to meet specific physical needs. For example, one participant described ordering a custom neck brace from a local welder; the custom brace would be used to prevent hyperextension of the neck when driving or riding in a vehicle. Innovation also meant thinking outside the box and using avenues other than healthcare providers to assist in managing symptoms. When disease progression presented new physical challenges for which there was no mechanical device to support or assist with the problem, participants developed an innovative new tool or piece of equipment. This innovation involved a continual process of problem solving. Learning to adapt to the progression of this disease was reported as the most difficult part of living with SMA. In order to live with SMA, participants acquired an innovative approach to disease management in an effort to maintain a certain level of functionality.
Participants described an optimistic life view as a necessity for living successfully with SMA. The personal resource of optimism has been shown to play both a direct and indirect role in adaptation to medical stressors (Fournier, de Ridder, & Bensing, 1999).
Living with SMA requires determination, positive attitude, supportive family and friends, and an ongoing approach to dealing with the progressive nature of the illness. Having a creative nature and a willingness to seek innovative solutions to symptom progression is essential. The data gathered contribute to our knowledge and understanding of people living with SMA. The findings support nursing interventions that teach self‐management techniques and a sense of empowerment.
A limitation of the study is the lack of face‐to‐face data collection; however, by using an Internet‐based method to gather data, the researcher was able to access an otherwise unreachable population. This disease is rare, and people diagnosed with SMA are scattered throughout the world. Very few medical clinics have been developed to specifically treat this disease. As demonstrated in this study, Internet and e‐mail methods of data collection have the potential to help researchers access participants who might not otherwise be accessible. Qualitative researchers can apply longstanding principles of recruitment and interviewing to this new setting (Hamilton & Bowers, 2006). Advantages of Internet‐based data collection in all fields include reduced time, lowered cost, ease of data entry, flexibility in format, and ability to capture additional response set information (Granello & Wheaton, 2006). Rhodes, Bowie, and Hergenrather (2003) identified additional advantages that included having the ability to reach large numbers of potential respondents, connecting with respondents from hidden populations, and reducing error and bias. Despite these advantages, concerns about this choice of method are inherent. Potential limitations include ensuring sample representativeness, assumptions about the “digital divide” or people who are unfamiliar with technology, anonymity and privacy, informed consent, and malfeasance (Rhodes et al., 2003).
Nursing implications can be derived from the description of people living with SMA. The rich description provides recognition of the challenges inherent to living with SMA and to the learned strategies the participants in this study use to manage day‐to‐day life. The qualitative data gathered in this study reflect the physical and emotional aspects of living with SMA as experienced by the participants. Nurses need to teach the progression of the illness and the importance of using prevention strategies to stay healthy. Nurses need to support people diagnosed with SMA as they develop innovative solutions to problems by encouraging adaptation to disease progression. People diagnosed with SMA need to be able to recognize concepts central to their emotional and mental well‐being. Care for people diagnosed with SMA must include holistic assessment.
Additional research is needed to examine how patients and families cope with SMA in the long term. Children living with SMA face different challenges, such as issues surrounding school and normal growth and development. Studies addressing the perception of the child are needed to add significant information to the knowledge base. Understanding the life experiences of family members and people diagnosed with SMA will provide a basis for appropriate clinical interventions.