What´s the Gaucher Disease

Gaucher disease is an inherited, chronic, progressive genetic disorder. People diagnosed with Gaucher disease lack an enzyme known as glucocerebrosidase (Bennett, 2013). It is the most common condition within the lysosomal storage order diseases (Chen, 2008). Glucocerebrosidase helps break down glucocerebreside, a fatty substance stored or accumulated inside the lysosome (Enderlin, 2003). This causes the cells to become bloated and is visible under a microscope. It is estimated that about 1 in 40,000 to 60,000 have Gaucher disease or about 10,000 people worldwide (Hughes, 2013). In addition, Gaucher disease has a higher frequency among Jews of Ashkenazi (Eastern European) decent: up to 1 in 450 people.

There are three clinical subtypes of Gaucher Disease. Non-neuronopathic (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 likely the disease will be severe and worsen if left untreated (Mikosch, 2011). Enlargement of the spleen is typically the initial finding and most common sign. Skeletal abnormalities are also very common, and they are present in most patients at the time of diagnosis.

Type 2 Gaucher disease is a rare, rapidly progressive form of the disorder that affects the brain as well as the organs affected by Type 1 Gaucher disease (Rossi, 2011). Previously called ‘infantile Gaucher disease’, Type 2 is characterized by severe neurological involvement in the first year of life. Fewer than 1 in 100,000 newborns have Type 2 disease (Mikosh, 2011). Infants w...

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...if the caregiver needs a break. Also, talking to the family about friends and family that they have reached out too, or organizations that they are currently using to make everyday tasks easier. In general, the evaluation is going to be based off observation, and the family and patients verbal report of their well being.

Gaucher’s disease is a rare childhood disease that has many effects on the patient and family including, financial, spiritual, physical, emotional, psychosocial, cultural, and community influences. Caring for a patient with Gauchers disease is complex and individualized. With no treatment available, managing symptoms of Gaucher disease is the only treatment. Creating a plan, identifying strategies to achieve the goals, and evaluating the outcome allows the patient, family and nurse to identify areas of improvement and what is working well already.