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Living With A Disability From The Perspective Of A Little Person

4581 words - 19 pages

Living with a Disability from the Perspective of a Little Person
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Living with a Disability from the Perspective of a Little Person
Ms. L.K., a charismatic 22-year old female, presented a first hand account of living with pseudoachondroplastic dysplasia, a rare inherited disorder of bone growth causing short stature (McKeand, 1996). From an early age her family made minor assistive concessions in order to mitigate physical limitation, but otherwise encouraged independence and instilled self-reliance. Following Bryan's example (1996) the family, comprised of average sized members, ...view middle of the document...

Despite short stature and a little over two decades fraught with challenges, L.K. proved to be a productive endearing member of society.
Physiological
Anatomical & Physiological Perspective
Around two years of age Ms. L. K. was diagnosed with pseudoachondroplasia, a rare inherited disorder that primarily affected the growth of long bones. Approximately 1 in 30,000 Individuals with the disorder are characterized by diminutive stature with an average adult male height of 3 feet 11 inches, and an average adult female height of 3 feet 9 inches (Horton et al., 1982). Respectively, Ms. L.K. was measured to be precisely 3 foot 8 inches as her maximal adult height. Pseudoachondroplasia is not visibly evident at time of birth and can virtually go unnoticed and undiagnosed until the age of two or three years of age (Davies et al., 1986A). Similarly, L.K.'s average sized parents were unaware of her condition until she was approximately two years of age, as they noticed an inhibited developmental growth pattern. Reference suggests that anatomical characteristics be defined as a person having proportionate head, facial features, and trunk (Davies et al., 1986B). In addition, limbs and appendages comprised of long bones are distinctively short in length (Davies et al., 1986C). Our client exhibited these particular anatomical features, which are key to distinction between similar skeletal dysplasia disorders. According to Briggs and Chapman (2002A) the extremities and appendages are shortened due to COMP gene mutations essential to cartilage to bone conversion, resulting in malformed COMP proteins. The abnormal proteins aggregate within the bone chondrocytes facilitating cell death. Dying chondrocytes cause diminished bone development resulting in shortened long bones of the extremities and appendages (Briggs & Chapman, 2002B).
Other physical characteristics include a shuffling gait, limited range of motion at both elbows and hips, bowed legs, as well as abnormal curvatures of the spine. Moreover, persons with pseudoachondroplasia often develop wide-ranging complications such as orthopedic problems, or possibly an early onset of osteoarthritis (Wirtz et al., 2000). Comparatively, the client revealed a number of secondary medical complications, such as lordosis, two hip-replacement procedures, vertebral procedures to correct compressed discs, as well as chronic joint pain due to development of bilateral osteoarthritis in her lower weight bearing joints.
Diagnosis of pseudoachondroplasia is based upon clinical findings, and radiographic procedures both performed around two years of age when a definitive skeletal growth pattern is established. Yet, diagnosis is difficult during early infancy to about two years due to normative values such as: average birth weight, length, and circumference proportions. Furthermore, it is often difficult to predict if no clear-cut inheritance pattern is evident. However, if a...

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