26 July: Gaucher Day
The World on 26 July 2014 observed first International Gaucher Day (IGD). The day was observed to mark the 160th birthday of Philippe Gaucher. Slogan of the day was Rare but Not Alone.
The IGD day has been established by the European Gaucher Alliance (EGA) to raise international awareness about Gaucher disease.
Gaucher Day 2014 in India
To observe the International Guacher Day and seek financial support from the government to help the patients of the Gaucher disease, a silent rally was organised in New Delhi. The rally was conducted at Race Course Road by Lysosomal Storage Disorder Support Society (LSDSS).
The participants included, seven-year-old Mohammed Ahmed, the first patient to be awarded free treatment at AIIMS following a verdict from the high court in April 2014.
About Philippe Gaucher
Philippe Charles Ernest Gaucher was a French dermatologist who in 1882 became the first person to describe the signs and symptoms of Gaucher disease. Gaucher discovered the disease as a student, which later became famous as Gaucher disease.
He was born on 26 July 1854 in the Bourgogne region at a time when France and Paris in particular, was a world leading centre for medical research and teaching.
He discovered this disease in a 32-year old woman who had an enlarged spleen. But at that time, he considered the disease as a form of splenetic cancer. However in 1965, the true biochemical nature of Gaucher disease was understood.
About Gaucher Disease
The Gaucher Disease is a life-threatening autosomal recessive disease called as Lysosomal Storage Disorders (lipid storage disease). This disease is reported in only 1 person in 1 lakh. It is caused by deficiency of specific enzyme (glucocerebrosidase) in the body. It is generally caused by a genetic mutation received from both parents (autosomal recessive inheritance), which leads to accumulation of the enzyme’s substrate glucocerebroside. Persons affected most seriously may also be more susceptible to infection.
Some symptoms of the disease includes
• 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
• Low blood platelets
• Yellow fatty deposits on the sclera
Where: across the world
What: was observed
When: on 26 July 2014