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Living with Pompe's Disease

A ventilator-dependent patient goes home after four years.

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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 and further a year later.

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.

Developing a Plan Of Care

Upon admission, Michael was evaluated by a physiatrist board certified in spinal cord injury and an admission team that includes a nurse, physical therapist, occupational therapist and speech therapist, all trained specifically in the evaluation and treatment of patients with neurological disorders.

Michael's interdisciplinary team also included a respiratory therapist, psychologist, recreational therapist, case manager, and nutritionist. Based on the initial evaluation, a cohesive plan of care with short- and long-term goals was developed and updated as warranted at weekly team meetings.

The primary objective was to create a safe and effective discharge plan for Michael and his family. Daily communication between the lead PT, OT and nurse was necessary not only to set realistic therapeutic goals, but to initiate the appropriate interventions to successfully meet the following long-term goals (LTGs):

Interdisciplinary LTGs:

  • Michael and his wife will successfully complete training in respiratory hygiene, skin inspection, and weight shifts, as well as proper positioning in wheelchair and bed, wheelchair management and propulsion, transfers, equipment training, communication, transportation options and a home exercise program of stretches and exercises.
  • Michael will be able to instruct others in his care previously listed in this family and caregiver training goal.
  • Michael will maximize his ability to independently perform activities of daily living and functional mobility at wheelchair level as well as limited household ambulation.
Physical therapy LTGs:

Michael will perform the following by discharge:

  • ambulate with rolling walker with moderate assistance for up to 50 feet, and instruct assistance needed for household ambulation.
  • achieve breath control with diaphragmatic pacer as well as with ventilator breaths to allow adequate ventilation for functional activities.
  • be independent in instructing postural drainage positions and stretching of trunk to assist with respiratory hygiene.
  • instruct how caregivers and family will negotiate wheelchair on stairs and curbs to maximize his community access.
  • complete all patient/family training with his wife, including home exercise program execution, wheelchair management and propulsion, and transfer and handling techniques, as well as ambulation with rolling walker.
Occupational therapy LTGs:

Michael will perform the following by discharge:

  • all feeding and grooming tasks with independence.
  • all upper body dressing tasks with modified independence.
  • all lower body dressing tasks with supervision after set-up and adaptive equipment as necessary.
  • rolling and sit-to-stand from supine on bed with modified independence.
  • lateral as well as stand pivot transfers with use of rolling walker to and from all surfaces with contact guard assistance.
  • trial all appropriate durable medical equipment and order as necessary.
  • complete all aspects of patient/family training and education with his wife as appropriate.
Nursing LTGs:

Michael will perform the following by discharge:

  • maintain skin integrity by knowing how to prevent a pressure ulcer, including skin inspections and weight shifting, as well as administering stoma site care.
  • gain the knowledge to maintain proper hydration and nutrition after discharge.
  • maximize his respiratory capacity by instructing secretion removal as well as maintenance of diaphragmatic pacer and ventilator.
  • be able to maintain bladder health, monitoring for signs and symptoms of infection.
  • be able to maintain proper bowel continence by ensuring regular defecation pattern by implementing established bowel program with medications as needed.
  • be able to instruct his wife and visiting nurses in his care as needed in areas including skin care, bowel and bladder care, respiratory hygiene and maintenance of diaphragmatic pacer and ventilator, medication management, nutritional needs and other self-care skills.

Living with Pompe's Disease

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