Nursing and rehabilitation of the patient with myotubular myopathy. Case study

Abstract

NURSING AND REHABILITATION OF THE PATIENT WITH MYOTUBULAR MYOPATHY. CASE STUDY

Introduction. Myotubular myopathy is a genetic disease causing weakening and atrophy of the muscles, which completely impairs functioning of the body, including the respiratory system disorders. The patients require complete care provided by their family, as they are not capable of independent existence themselves. Due to the long-term programme of home care of children with chronic respiratory insufficiency, families – taking advantage of professional qualified medical assistance and the proper equipment – are able to function in a relatively normal way transferring the whole treatment process to their house environments. Owing to this, children can stay at home, among the loved ones, where they are not accompanied by constant fear, anxiety and hospital worries. On the other hand, parents, to some extent, are able to arrange their daily activities. The most important thing is to provide the best possible physical and mental comfort to family, including the sense of security.

Aim. The aim of the study was to learn and cover with individualized nursing care in home conditions of a child with a genetic disease (myotubular myopathy) and with limited mobility and using home respirotherapy.

Material and methods. The case study method was applied in the thesis. The following research tools were used: interview, observation, analysis of documentation, the measurements of heart rate, saturation and blood pressure were made.

Conclusion. The child with the genetic disease of the muscles and respiratory insufficiency, completely dependent on their caretakers, requires meeting the needs in each sphere of physical and mental life. This child lives the life of his/her own rhythm, in his/her world, setting the rhythm to their parents. Parents also need support, particularly psychological and sometimes financial one, to be able to meet significant needs that the care of the incurably sick child involves.