The quality of life of children suffering with spinal muscular atrophy

The scope of this dissertation focuses on issues related to the quality of life of children suffering with spinal muscular atrophy (SMA) and their carers and the associated social impact on families affected by this progressive and incurable disease. It describes ethical aspects of help to families with SMA and serious decisions in relation to the need to connect to artificial ventilation. Spinal Muscular Atrophy - SMA is a motoneuron disease i.e. disease of neurons, which are responsible for conscious movements of muscles e.g. running, head movement and swallowing. The prevalence is approximately 1 newborn for 6000 live births and approximately 1 person of 40 people is the carrier of the disease. SMA affects all the bone muscles i.e. proximal muscles are often affected the most. Everyone affected is in some point in life, depending on stage and type, reliant on mechanical or electrical wheelchair, in many cases also on artificial ventilation and permanent 24hr care. Families affected by this illness accept the fact of this progressive and incurable illness differently, this dissertation reflects upon such different perceptions on quality of life of the affected children, the carers. It forms a contribution in building a foundation for organising multi-discipline teams of experts with sole purpose of therapeutical interventions, to support the child and his/hers family. The World Health Organization (WHO) defines palliative care as "improving quality of life of patients facing life-threatening illnesses, and their families, through the prevention and relief of suffering by early identification and treatment of pain and other problems, whether physical, psychological, social or spiritual." Palliative care prepares families for these situations and should be provided along with whatever treatment options families choose. This dissertation is a comprehensive information base to support children affected by SMA and their families in early care in Czech Republic and in the process of inclusive educational integration into mainstream society