Duchenne Muscular Dystrophy - Essay Example

Duchenne Muscular Dystrophy Clinical description of the patient The patient is a twelve year old boy with Duchenne Muscular Dystrophy and is confined to a wheel chair. He showed symptoms of Duchenne Muscular Dystrophy (DMD), as a pre-scholar at the age of 3 his legs were first affected making his walking and balancing a problem. He walked six months later than expected and had problems running. Later his legs weakened and had to push his knees in order to stand. His calves began to swell later with fibrous tissue, which felt firm and rubbery, rather than muscle. He then began walking with adding gait due to the weakened legs. At the age of six, he had already developed contractures with the calf muscles being the most severely affected (Larsen & Lubkin, 2013). By the age of nine climbing stairs and rising unaided was impossible, and at ten years, he was confined to a wheelchair. He has weakening trunk muscles which can easily cause scoliosis. His diaphragm muscles are also weakened which makes breathing and coughing difficult, and increases chances of lung infection. Complications such as sleep disordered breathing; ineffective cough and nocturnal hypoventilation are being experienced. The patient also has difficulties learning through listening and attention span is low (American Thoracic Society, 2010). DMD symptom management The focus of this study is the symptom management of neuromuscular and skeletal muscles. In a review article by a team of 84 practitioners representing the specialists who provide care to DMD patients selected by Centre for Disease control (CDC), they independently rated the interventions and assessments that are used in DMD management (DMD Care Considerations Working Group, 2009). From this assessment, CDC expert panelists came up with management interventions for the neuro and skeletal muscles for a DMD patient at the stage in which this patient is. The first intervention for muscle strength and function is pharmacological intervention to address the progression of muscle degeneration in a DMD patient. The treatment that the review focuses on is the use of the glucococrticoids to optimize strength and function of these muscles. Glucocorticoids slow the collapsing of muscle strength, as well as its function, thereby reducing the risk of scoliosis and stabilize pulmonary function. The initial RCTs of patients on 0.75 mg/kg daily dose of prednisone for six months showed improvement in muscle strength. Prednisolone and deflazacort are other glucocorticoids that were shown to be effective on a daily dose instead of alternate days. These medications were shown also to prolong ambulation and in patients that have become non- ambulatory showed reduced risks of progressive scoliosis and stabilization of pulmonary function. There is no agreed time to start the glucocorticoids therapy since this is based on serial assessments, as well as parental report in the disease’s three phases. However, for a patient who has lost ambulation such as this one, the CDC experts review points the therapy can be introduced or continued in order to preserve upper limb strength, reduce progression of scoliosis and slow down loss of respiratory and cardiac function. The review concludes that other supplements could be used to manage the neuro and skeletal muscles weaknesses such as coenzyme Q10, carnitine, and antioxidants such as fish oils, vitamin E, green tea extracts and amino acids. In another review article by the CDC expert panel on the implementation of multidisciplinary care in the management of DMD, the expert panel of the CDC project addresses skeletal and respiratory management (DMD Care Considerations Working Group, 2009). In spinal management, the earlier management with the use of glucocorticoid treatment is retaliated to curb progression of scoliosis and a small chance of developing vertebral compression fractures caused by osteoporosis. The spinal care should be given and monitored by an experienced spinal surgeon by monitoring scoliosis, support of the spinal or pelvic support and spinal extension through extended wheelchair seating and monitoring of painful vertebral fractures. The article further suggests that spinal fusion can be done to straighten the spine. This prevents deformity from getting worse; eliminate pain brought about by vertebral fracture and slow respiratory decline. Surgery is also an option in patients under glucocorticoids treatment if the curve progression continues. Bone health management is another intervention in a DMD patient as part of life long care. Though two consensus statements have been published on the practice of bone health management, research is still need to establish parameters and therefore the panel did not give further details. In respiratory management, the use of assisted cough and nocturnal ventilation is suggested to prolong survival. Improving the quality of life The concept of quality of life of a patient with DMD in the long term care encompasses the person’s entire well being, including the physical, spiritual, social and psychological aspects of a person (Larsen & Lubkin, 2013). In a research conducted at King’s Collage London led by professor John Weinman on the changing adverse illness beliefs in those with muscle diseases in 2010, he says that muscle disease can reduce the quality of life an individual lives, but the severity of the disease does not wholly reduce the quality of life (American Thoracic Society , 2010). Factors such as how an individual views the illness affect the quality of life. In this light the research sought to find out people’s beliefs about their muscle disease and explore ways of changing negative perceptions that reduce the quality of life in the long term. The findings outline other factors that impact the quality of life as muscle disease patients as social support networks, optimism and personal perceptions of the illness. This according to Weinman, varies widely with the quality of life patients with even similar levels of severity of the disease. The perceptions patients have of the disease are formed from the information they get from their doctors, family and friends and the media. The information may touch on how this information will progress over time, its causes and effects and the level it can be controlled or cured. The findings showed that some people have negative perceptions about the illness and this undermines the quality of life without considering the severity of the disease. These negative perceptions can be changed through a variety of techniques through education and training in the long term care. These will help patients in that effective drug treatment for DMD is still not available and therefore other alternatives to improve the quality of life for patients. Another article that addresses the quality of life of a person with DMD regards to the understanding learning and behavior of a child suffering from the disease for teachers as well as parents to enhance long term care is discussed by Parent Project Muscular Dystrophy organization (Parent Project Muscular Dystrophy, 2010). The article introduces learning and behavior concerns in children with DMD at different stages and the cognitive issues affecting each stage. It also explores learning issues such as language, intellectual ability, attention and learning and intervention issues that care givers should implement. Behavioral and emotional adjustments in a male child suffering DMD and the various intervention measures are also discussed in details. Interventions The patient has skeletal and pulmonary muscles weakness which made him confined him on a wheel chair and experienced problems with the respiratory system. To enhance the quality of life of the boy in the long term care life threatening or sustaining interventions are needed. One o the intervention measure is Experience Sampling Method (ESM). This entails self report time-sampling developed to study person-environment interactions. This is used in occupational therapy where the patient himself gives subjective accounts of his experiences throughout the day. A PDA or a beeper is used to record data in ‘real time’ on daily activities and does not require him to recall. This way, parents and care givers gauge the quality of life from the boy’s view point and therefore they make informed choices about future therapies (Douglas, Daly, Kelley, O'Toole & Montenegro, 2007). The boy also struggles with social interactions due physical limitations and fatigue during events such as sports, play activities and games. Enrolling the boy to participate in a social skills training program will be very beneficial. This is geared towards teaching positive social interaction in a small-group format through modeling. The boy will be able to engage in a group appropriately, respond to teasing, how to ask about others interests etc. Nutritional support is very important for the patient in improving the quality of life. Antioxidants and anti-inflammatories have been shown to offer some benefits according to (cite). One such supplement is creatine which is used by body builders to enhance strength and endurance of the muscles. This when is released into the muscle cells promotes protein synthesis while at the same time reduce protein breakdown. In this patient, it will imp-rove muscle performance and strength, reduce fatigue and to a small extent improve bone mineral density. Green tea is another supplement that the patient needs due to the benefits associated with it. Beside protection against numerous cancers and improvement of cardiovascular health Parker, Maddocks and Stern, say that protection against neurological decline is another benefit that DMD patients can derive from green tea. Green tea polyphenols such as EGCG have been established as great antioxidants that reduce the oxidative stress in the muscle tissue degradation. In addition to these supplements, the patient will require a daily dose of coenzyme Q10 which is also great as an antioxidant, and as a mitochondrial respiratory chain factor. This helps in energy production in the muscles. Moreover supplements of calcium and vitamin D, glutamine and arginine and utrophin will address the underlying deterioration in muscles. Palliative care The patient has a severe case of DMD, which is life threatening and eventually is fatal. The patient requires supportive care in addition to the treatment received for the disease. Since the disease is advanced and progressively deteriorating I would recommend palliative care. This will ensure management of symptoms such as the respiratory problems and opportunistic diseases; pain is addressed as the young boy receives physical, psychological, social and spiritual support. Palliative care will also offer the boy's family the support they need to cope with the illness. Another aspect of palliative care in regard to DMD is decision making as to the choice of care. Children are very sensitive and should be engaged in choosing of the best care especially when it comes to management of the inevitable respiratory failure. The decision needs should be made early, not during an emergency. All this will ensure quality active life for the boy and the family too (Parker, Maddocks & Stern, 1999). Reference List American Thoracic Society. (2010). Respiratory Care of Patients with Duchenne Muscular Dystrophy. USA: American Thoracic Society. DMD Care Considerations Working Group. (2009). Diagnosis and Management of Duchenne Muscular Dystrophy, Part 2: Implementation of Multidisciplinary Care. UK: Newcastle University. Douglas, S., Daly, B., Kelley, C., O'Toole, E., & Montenegro, H. (2007). Chronically Critically Ill Patients: Health-Related Quality of Life and Resources Use After a Disease Management Intervention. American Journal of Critical Care,5(3), pp. 447-457. Larsen, P., & Lubkin, I. (2003). Chronic Illness: Impact and Intervention. USA: Jones and Bartlett Publishers. Parent Project Muscular Dystrophy. (2010). Learning and Behaviour in Duchenne Muscular Dystrophy for Parent and Educators. USA: Parent Project Muscular Dystrophy. Parker, D., Maddocks, I., & Stern, L. (1999). The Role of Palliative Care in Advanced Muscular Dystrophy and Spinal Muscular Atrophy. Journal of Paediatric. Child Health, 6(4), pp. 245-250. Read More