Those with spinal muscular atrophy (SMA) face psychological and social challenges that often hinder quality of life.1 Even those who are able to live in their homes and participate in school, employment, and leisure activities are burdened with challenges related to their illness.2 One of the most frequently cited difficulties amongst this group of SMA patients is the need to depend on other people throughout the day. This dependence often leads to feelings of guilt and a lack of a sense of control.
Physical assistance represents the bulk of the aid that SMA patients need from others to complete daily activities. SMA type II children can generally sit without assistance but do require help to stand or walk, and SMA type III patients require aid climbing stairs and standing up from a seated position.2,3 Given the need for this regular physical assistance, SMA significantly impacts both patients and those around them.4 Nonetheless, modifications to the home and other public areas, as well as the use of assistive technologies can help these patients to overcome some of the barriers they face and to lead a more normal life of higher quality.
Research into what it is like to live with SMA has demonstrated that SMA patients are fulfilled by school, work, and travel activities and may possess the same goals as those without the disease – including the desire to save money, obtain a stable job, and purchase a home.2 Even traveling locally, such as to the store via wheelchair, is something that helps to make these patients feel autonomous, as they minimize their dependence on others.
Impact on the Home
SMA patients have provided information on how improvements can make life easier for them.2 One of these changes is widening doorways, which can make it possible for those with SMA to travel between rooms of the house in their wheelchairs. Similarly, adjusting the height of beds so that getting from the wheelchair into bed is possible to achieve independently reduces the burden on others and helps SMA patients feel more independent. The inability to go to the toilet on one’s own is a common complaint amongst SMA patients, and the use of bags or buckets in the home can reduce the need to be carried to the bathroom each time one must use the toilet. This small adjustment can be particularly helpful in the night when family members or staff may not be readily available.
Impact on School and Leisure
Children with SMA are susceptible to absences from school, work, and leisure activities due to the severity of their illness and the potential need to be hospitalized. Respiratory failure is a frequent common challenge that keeps SMA patients away from school and other activities. Use of certain assistive devices can improve attendance. For instance, the bilevel positive airway pressure system, BiPAP, has been shown to increase the amount of time that children can attend full-time school.5Â
Though SMA patients may at one time have been able to actively participate in school activities, including sports, and travel without significant difficulty, these once highly feasible activities become harder and harder over time, which can take a psychological toll on patients.2 Nonetheless, the cognitive aspects of education do not seem to be impacted by SMA, so modifications to curriculum to accommodate cognitive difficulties do not appear necessary for SMA children. Indeed, researchers have found that children with SMA, who are limited in their mobility, may actually develop stronger language skills earlier than those without SMA.6,7 Unlike children with Duchenne muscular dystrophy, who appear to suffer a specific cognitive defect,8 studies conducted since the 1990s have shown that children with SMA perform better than controls in certain cognitive tasks.6,9Â
Accommodating SMA Patients in the Future
Though there is little research exploring what it is like to live with SMA, the need for more relevant guidance is becoming increasingly recognized.2,10 Researchers suggest that nurses should be integral to planning and managing how SMA patients and their families approach aspects of living with the disease, and that there should be a booklet created by clinical practitioners to help these patients, their families, and their healthcare providers navigate life with the disease. According to these experts, healthcare professionals should be involved in ensuring that patients have support groups to address psychological challenges of living with SMA and to help patients to participate in activities that help them achieve their goals and establish a sense of integrity.Â
References
1. Wang CH, Finkel RS, Bertini ES, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22(8):1027-1049. doi:10.1177/0883073807305788
2. Ho, HM, Tseng, YH, Hsin, YM, Chou, FH, & Lin W. Living with illness and self-transcendence: The lived experience of patients with spinal muscular atrophy. J Adv Nurs. 2016;72(11):2695-2705.
3. Iannaccone ST. Modern management of spinal muscular atrophy. J Child Neurol. 2007;22(8):974-978. doi:10.1177/0883073807305670
4. Liu, MC & Chen J. Nursing experience of caring for a child with spinal muscular atrophy by the family resiliency model. Kaohsiung J Nurs. 2009;26(2):80-95.
5. Padman R, Lawless S, Von Nessen S. Use of BiPAP by nasal mask in the treatment of respiratory insufficiency in pediatric patients: preliminary investigation. Pediatr Pulmonol. 1994;17(2):119-123.
6. Benony C, Benony H. Precocity of the acquisition of language and type II spinal muscular atrophy in 3-4-year-old children: a study of 12 cases. Eur J Paediatr Neurol. 2005;9(2):71-76. doi:10.1016/j.ejpn.2005.02.001
7. Sieratzki, JS & Woll B. Moving ahead in language: Observations on a report of precocious language development in 3-4 year old children with spinal muscular atrophy type II. Eur J Paediatr Neurol. 2005;9:433-434.
8. Billard C, Gillet P, Signoret JL, et al. Cognitive functions in Duchenne muscular dystrophy: a reappraisal and comparison with spinal muscular atrophy. Neuromuscul Disord. 1992;2(5-6):371-378.
9. Benony, C & Benony H. Organisation cognitivo-intellectuelle et maladie de Werdnig-Hoffman. Rev Eur Psychol Appl. 1994;44:235-239.
10. Lamb, C & Peden A. Understanding the experience of living with spinal muscular atrophy: a qualitative description. J Neurosci Nurs. 2008;40(4):250-256.