#RareButNotAlone: International Gaucher Day (IGD) 2020
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International Gaucher Day (IGD) was launched in 2014 and is celebrated annually on 1st October to raise awareness of Gaucher disease.

ABOUT DISEASE:

Gaucher Disease is an autosomal recessive disease and the most common Lysosomal Storage Disorder, with an incidence of about 1 in 100,000 live births.

Gaucher Disease Discoverer: Philippe Charles Ernest Gaucher (July 26, 1854 - January 25, 1918) was a French dermatologist. Gaucher is remembered for his description of the disorder that was to become known as Gaucher disease.

In 1882 while still a student, he discovered this disease in a 32-year old woman who had an enlarged spleen. At the time, Gaucher thought it to be a form of splenetic cancer. However, it wouldn't be until 1965 that the true biochemical nature of Gaucher disease was understood.

CAUSE:

~ Deficiency of a specific enzyme (glucocerebrosidase) in the body, caused by a genetic mutation received from both parents (autosomal recessive inheritance).

~ This leads to an accumulation of the enzyme's substrate, glucocerebroside, which results in it being stored in the spleen, liver, kidneys, lungs, brain and bone marrow.

SYMPTOMS:

Enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions that may be painful, neurologic complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelets, yellow fatty deposits on the sclera.

TYPES:

Type I, the most common, also called the 'non-neuropathic' type is characterized by the problems listed above with no essential neurological symptoms. This is often called the adult form, although the cause is present from the time of conception.

Type II, also called acute neuronopathic Gaucher disease, is very rare and characterised by rapidly progressive neurological problems in babies. Formerly called infantile Gaucher disease, Type 2 is described by severe neurological involvement in the first year of life. Fewer than 1 in 100,000 newborns have Type 2 disease.

Type III, also called neuronopathic Gaucher disease is also very rare but differing from Type II, it is characterized by slowly progressive neurologic symptoms. The signs and symptoms of Type 3 Gaucher disease appear later in childhood than the symptoms of Type 2 Gaucher Disease.

Source: https://gaucheralliance.org
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