Gaucher disease is a hereditary, chronic and progressive genetic disease. People with Gaucher disease lack an enzyme called glucocerebrosidase (Bennett, 2013). It is the most common condition among lysosomal storage diseases (Chen, 2008). Glucocerebrosidase helps break down glucocerebside, a fatty substance stored or accumulated inside the lysosome (Enderlin, 2003). This causes the cells to swell and is visible under a microscope. It is estimated that approximately 1 in 40,000 to 60,000 people have Gaucher disease, or approximately 10,000 people worldwide (Hughes, 2013). Additionally, Gaucher disease is more common among Jews of Ashkenazi descent (Eastern Europe): up to 1 in 450 people. There are three clinical subtypes of Gaucher disease. The non-neuropathic form (type 1) is the most common form and does not involve the central nervous system (Hockenberry, 2013). Type 1 Gaucher disease has many clinical signs and symptoms that may begin in childhood and progress over time. A general rule to follow with Gaucher disease is that the earlier in life the first symptoms appear, the more serious the disease is likely to be and get worse if left untreated (Mikosch, 2011). An enlarged spleen is usually the initial sign and the most common sign. Skeletal abnormalities are also very common and are present in most patients at the time of diagnosis. Gaucher disease type 2 is a rare and rapidly progressive form of the disease that affects the brain as well as organs affected by Gaucher disease type 1 (Rossi, 2011). Formerly called “infantile Gaucher disease”, type 2 is characterized by severe neurological damage during the first year of life. Fewer than one in 100,000 newborns suffer from type 2 disease (Mikosh, 2011). Infants with...... in the middle of paper......if their caregiver needs a break. Also talk to family about friends and family they have also reached out to, or organizations they currently use to make daily tasks easier. Typically, the assessment will be based on observation and verbal report from the family and patient of their well-being. Gaucher disease is a rare childhood illness that has many effects on the patient and their family, including financial, spiritual, physical, emotional. , psychosocial, cultural and community influences. The care of a patient with Gauchers disease is complex and individualized. With no treatment available, managing the symptoms of Gaucher disease is the only treatment. Creating a plan, identifying strategies to achieve goals, and evaluating results allows the patient, family, and nurse to identify areas for improvement and what is already working well..