Originally posted by Barbara Garrett, PT, NCS, Amanda Rafel, OTR/L, and Jenette Centeno, RN, for Advance for Occupational Therapy Practitioners on December 4, 2012
Imagine being told that the increasing weakness in your legs and shortness of breath is the result of a rare and progressive disorder caused by a genetic mutation that destroys skeletal muscle.
This rare disorder, known as Pompe’s disease, affects one in 40,000 people and was featured in the recent film “Extraordinary Measures.” It causes an enzyme deficiency leading to glycogen accumulating in and eventually destroying the muscles of the body.
This case study outlines the course of physical and occupational therapy as a component of inpatient interdisciplinary rehabilitation for Michael, a 53-year-old male who was diagnosed with Pompe’s disease in 2007.
Beginning in 1992, Michael was living at home initially despite the symptoms of fatigue, respiratory distress and weakness in his trunk and proximal extremities, as is typical in the late onset variation of Pompe’s Disease. He began to have increasing difficulty breathing and ambulating in 2006.
In March 2007, he was hospitalized and placed on a ventilator, a G-tube was placed for nutrition, and the diagnosis of Pompe’s disease was made based on muscle biopsy. Sadly, his insurance did not allow for 24-hour care as is required with the ventilator. He was placed in a long-term care facility for four years but he never gave up hope of going home, researching options such as a diaphragmatic pacer to assist with his respiratory status. He underwent surgery to place the device in August 2011.
Once he was medically stable, Michael was transferred to Kessler Institute for Rehabilitation. Kessler, located in West Orange, NJ, is one of only 14 centers across the country to receive federal designation as a Model System of Spinal Cord Injury Care. Additionally, Kessler offers a highly specialized 16-bed center for ventilator dependent individuals. As an inpatient, Michael participated in a comprehensive integrated program that included physical and occupational therapy in conjunction with nursing care that resulted in a successful discharge to home.
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