What is Gaucher’s disease?

International Gaucher Day was first launched in 2014 and is celebrated annually on 1 October to raise awareness of Gaucher’s disease. 

Rare Disease South Africa explained that this rare disease was named after Philippe Charles Ernest Gaucher who, in 1882 whilst still a student, discovered the 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 and published his findings in his doctorate. It was not until 1965 that the true biochemical nature of Gaucher’s disease was properly understood.

According to the organisation, the development of Enzyme Replacement Therapy in 1991 offered life-saving treatment to many Gaucher patients, however, there remains much unmet medical need and in many countries, patients cannot get treatment as their governments do not have reimbursement programmes in place or are unable to support all patients who need treatment.

Patient associations around the world, including Rare Diseases South Africa, will be supporting International Gaucher Day to:

• Highlight the existence of Gaucher’s disease and its signs and symptoms to create greater awareness among doctors to ensure the patients are at an early stage to prevent misdiagnosis and incorrect treatment
• Inform communities of the existence of available treatments
• Shine the spotlight on unmet medical need particularly the lack of treatment for patients with a neuronopathic type of the disease
• Prioritise the tragedy of countless patients in many parts of the world who are unable to access lifesaving treatments
• Encourage further research into Gaucher’s disease with particular reference to the links that are emerging between Gaucher’s disease and more common conditions such as Parkinson’s disease

Kelly du Plessis, CEO of Rare Diseases South Africa said, “Gaucher disease has been treated in South Africa for in excess of 20 years, and the children who initially started on these treatments years ago are now thriving adults. This shows the importance of early diagnosis and treatment intervention, as this is directly linked to patient outcomes.”

Related Article:

https://fourwaysreview.co.za/298353/sarah08rarediseases/