Gaucher's Disease and Receiving Social Security Disability
Gauchers disease, which is also sometimes referred to as glucocerebrosidase deficiency, is a genetic disease. This means that it is an inherited disease. Gauchers disease is marked by the accumulation of a fatty substance (lipid)that is called glucocerebroside in your cells and certain organs, including your spleen, liver, kidneys, brain, lungs and bone marrow.
Gauchers disease is the most common of the lysosomal storage diseases. It occurs in about 1 in 20,000 live births.
Lysosomal storage diseases are a group of about 40 inherited metabolic conditions that are rare. They result from defects in lysosome function.
Gauchers disease can develop in anyone at any age. It is most common in Ashkenazi (Central and Eastern European) Jewish people.
Gauchers disease is named after the French doctor Philippe Gaucher. He first described this disease in 1882.
There are three types of Gauchers disease. They are:
Type 1 This is the most common type of the disease. This type of Gauchers disease causes spleen and liver enlargement. Sometimes it involves kidney and lung difficulties. It does not affect your brain.
Type 2 This type causes severe brain damage. It occurs in infants. Most children with this type of the disease die before reaching 2 years of age.
Type 3 This type involves spleen and liver enlargement. The brain is affected gradually.
The signs and symptoms of Gauchers disease may vary greatly from person to person. This is especially true with the different types of this disease. Signs and symptoms that you may experience include:
Pingueculae (yellow spots in your eyes)
Skeletal abnormalities that include bone fractures, bone pain and osteopenia (thinning of your bones)
Cognitive deterioration that includes dementia or mental retardation
Loss of muscle coordination
Anemia (decrease in healthy red blood cells)
Abnormal eye movements
Splenomegaly (enlarged spleen) or hepatomegaly (enlarged liver), or both
An increased risk of bruising, which may mean that you have thrombocytopenia (low number of blood platelets).
You or a loved one may have Gauchers disease. Gauchers disease and/or complications that have resulted from this condition may be the cause of your disability and not being able to work.
You may need assistance because of this. You may need financial help.
You or your loved one may be intending to apply for the financial assistance that you need from the Social Security Administration by applying for Social Security disability benefits or disability benefits because of the disability caused by Gauchers disease and/or complications that have resulted from this condition. You or your loved one may have already done this and been denied by the Social Security Administration.
If you or your loved one plans on reapplying or appealing the denial, remember this important fact. The truth is that people who are represented by a disability attorney like the one you will find at disabilitycasereview.com are approved more often than people who do not have a disability lawyer standing with them.