|Eye on Psi Chi: Winter 2017|
Eye on Psi Chi
Summer 2017 | Volume 21 | Issue 2
What Is Spinal Muscular Atrophy and Why Does It Matter?
When my brother Stephen was in kindergarten, he used to take the bus to and from school, but it wasn’t the same bus most of his classmates took. The bus my brother rode was, well, special. Stephen has a disability called Spinal Muscular Atrophy (SMA). His muscles are abnormally weak and degenerate over time, so he has been in a wheelchair for most of his life.
Because the bus for disabled students was wheelchair accessible, it allowed Stephen a small taste of independence even at such a young age. But as Stephen was riding the bus one afternoon, the bus driver hit a bump that was forceful enough to cause Stephen to fall forward in his wheelchair, his chest hunched over his legs, unable to even lift his head back up. Stephen tried to call for help, but it was impossible to call loud enough for the driver to notice, so Stephen spent the long bus ride home hunched over in discomfort and anxiety.
When Stephen finally arrived home, our mother asked the driver why he never helped Stephen. The driver said he was afraid to touch Stephen because he thought he was having a seizure. The driver was afraid not only to give help, but to simply ask Stephen if help was needed. Ironically, it was the driver’s fear of doing the wrong thing that led him away from doing the right thing.
It isn’t difficult to understand the hesitance displayed by the bus driver. He lacked knowledge about SMA and feared that helping would only make matters worse. But my brother, a young child at the time whom the driver was, in that moment, responsible for, needed to be helped. I would have needed help too. Like Stephen, I also have SMA.
What Is SMA?
SMA is a degenerative neuromuscular disease, in which motor neurons in the spinal cord deplete over time. One in 6,000–10,000 individuals are born with SMA and one in 40–60 people are carriers of the disease (D’Amico, Mercuri, Tiziano, & Bertini, 2011). Next to cystic fibrosis, SMA is the second most fatal autosomal recessive disorder.
An autosomal recessive disorder is a mutation caused when a person has two copies of an imperfect gene. For SMA, approximately 95% of cases are connected to a flaw in the survival motor neuron 1 (SMN1) gene. The SMN1 gene supplies instruction for producing the SMN protein, which is present throughout the body, particularly in the spinal cord, and is necessary for maintaining motor neurons, which underlie muscle movement (National Library of Medicine, 2016). The mutation on the SMN1 gene is the result of an incomplete strand of the SMN1 gene, as well as gene conversion of SMN1 to SMN2. Similar to SMN1, the SMN2 gene helps produce motor neurons, however SMN2 tends to produce less stable SMN protein (Kashima, Rao, David, & Manley, 2007).
Although, a deficiency in SMN1 can be partially compensated for by the SMN2 gene, there is still the potential for atypical motor neuron development. Additionally, the degree of symptom severity is related to the SMN2 gene—the fewer copies one has, the more severe the SMA diagnosis will be.
Four Types of SMA
Across all types of SMA, gross motor muscles, such as those used for walking, typically degenerate more rapidly than fine motor muscles used for hand dexterity, among similar movements. No two individuals with SMA, however, show symptoms in exactly the same way. Because symptoms of the disease vary, it is easy to understand the uncertainty and confusion that people sometimes experience when in the company of someone with SMA, or any disability. Although there are a wide variety of physical symptoms, people with SMA generally have an excellent quality of life and don’t tend to experience chronic pain. Additionally, individuals with SMA do not experience cognitive deficits as a result of the disease. It is merely a physical condition and interaction with an individual can be as normal and intellectually stimulating as it would be with anyone else. For example, I enjoy learning about the science of human behavior and thrive on the joys and challenges of tutoring fellow students in psychology.
Why It Matters
Researchers have found that interaction with disabled individuals sometimes draws avoidant reactions from nondisabled individuals including the tendency to avoid physical contact (Park, Faulkner, & Schaller, 2003; Snyder, Kleck, Strenta, & Mentzer, 1979). Some studies have determined that this kind of negative reaction may be due to uncertainty and ignorance about the needs of the disabled individual (Kaye, Jans, & Jones, 2011; Makas, 1988). Kaye and colleagues (2011) conducted a study in which they surveyed 463 employers who were reputed by a regional Disability and Business Technical Assistance Center to be reluctant to hire or accommodate disabled workers. Participants were asked to determine possible explanations for why employers might not accommodate, retain, or hire workers with disabilities. Eighty-two percent of participants believed that one reason employers don’t retain disabled workers is because they don’t know how to address the needs of the employee with a disability. Specifically, better training for managers and supervisors on disability concerns was the highest rated strategy for improvement with 74 percent of participants rating it as very helpful for fixing employment, retention, and accommodation of disabled workers.
In the United States, there have been two integral acts: the Individuals With Disabilities Education Act and the Americans With Disabilities Act (ADA) that have promoted the acceptance and integration of disabled individuals into everyday society. In particular, the ADA, passed in 1990 and amended in 2008, has been essential in making employment, education, and accessibility available to people with disabilities by providing state and government services to help individuals find and maintain employment, access to transportation, and make modifications to public buildings (e.g., elevators, access to bathrooms), among other accommodations.
However, in spite of federal laws in support of disabled citizens, there is still disconnect with daily individual needs (Kaye et al., 2011; Lengnick-Hall, Gaunt, & Brooks, 2014; Makas, 1988). For example, I’ve experienced difficulty with accessing public transportation and several-story buildings with no elevators. It’s important to be aware of how everyone can help disabled individuals at work, school, and within their everyday lives, and to recognize just how much they have to offer. The challenges of the disabled citizen’s day are nearly constant, and when a helping hand is shared, it makes every difference in relieving not just physical stress, but emotional anxiety as well.
As a society, we cannot afford to let fear of doing the wrong thing prevent us from doing the right thing, like it did for Stephen’s bus driver. It is necessary that information about a variety of disabilities is not only explored by those within employment training programs, but is accessible to and sought out by us all. As humans, it’s our responsibility to be as informed as we can be about how to help one another. In the meantime, we can start by reading and sharing articles that seek to inform us about disabilities, asking others if help is needed, saying a kind word, or even smiling at someone. These are simple ways that we can make deeper connections with each other and improve quality of life for everyone.
D’Amico, A., Mercuri, E., Tiziano, F. D., & Bertini, E. (2011). Spinal muscular atrophy. Orphanet Journal of Rare Diseases, 6. http://dx.doi.org/10.1186/1750-1172-6-71
Kashima, T., Rao, N., David, C. J., & Manley, J. L. (2007). hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing. Human Molecular Genetics, 16, 3149–3159. http://dx.doi.org/10.1093/hmg/ddm276
Kaye, H. S., Jans, L. H., & Jones, E. C. (2011). Why don’t employers hire and retain workers with disabilities? Journal of Occupational Rehabilitation, 21(4), 526–536. http://dx.doi.org/10.1007/s10926-011-9302-8
Lengnick-Hall, M. L., Gaunt, P. M., & Brooks, A. A. R. (2001). Why employers don’t hire people with disabilities: A survey of the literature. College of Business, University of Texas at San Antonio. Retrieved from http://www.cprf.org/studies/why-employers-dont-hire-people-with-disabilities-a-survey-of-the-literature/
Lunn, M. R., & Wang, C. H. (2008). Spinal muscular atrophy. The Lancet, 371, 2120–2133. http://dx.doi.org/10.1016/S0140-6736(08)60921-6
Makas, E. (1988). Positive attitudes toward disabled people: Disabled and nondisabled persons’ perspectives. Journal of Social Issues, 44, 49–61. http://dx.doi.org/10.1111/j.1540-4560.1988.tb02048.x
National Library of Medicine. (2016). SMN1. Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/SMN1
Park, J. H., Faulkner, J., & Schaller, M. (2003). Evolved disease-avoidance processes and contemporary anti-social behavior: Prejudicial attitudes and avoidance of people with physical disabilities. Journal of Nonverbal Behavior, 27, 65–87. http://dx.doi.org/10.1023/A:1023910408854
Snyder, M. L., Kleck, R. E., Strenta, A., & Mentzer, S. J. (1979). Avoidance of the handicapped: An attributional ambiguity analysis. ,i>Journal of Personality and Social Psychology, 37, 2297–2306. http://dx.doi.org/10.1037/0022-35188.8.131.527
Magdalyn “Maggie” Fiore Fiore was born and raised in California. Now living on the east coast, Maggie is attending Mount St. Mary’s University in Emmitsburg, MD. She is a senior psychology major studying to receive her bachelors of science with the hopes of attending graduate school in the coming year to pursue a future in science writing. Maggie is the vice-president of her Psi Chi chapter, edits for her campus literary journal, and is also involved in MSMU’s Peer Tutoring program. Currently, Maggie is working on a research project under the supervision of her department faculty to study the influence of physical activity on impulsivity using rats as an animal model and a method of delay discounting. She hopes to present her research at a conference in the spring.
Copyright 2017 (Vol. 21, Iss. 2) Psi Chi, the International Honor Society in Psychology