Observe Rare Disease Day

THERE are 3.7 million South Africans living with one of the 7 000 rare diseases. This is according to Rare Disease South Africa.

International Rare Disease Day is observed annually, on February 28, to raise awareness for rare diseases and to improve access to treatment and medical representation for individuals with rare diseases – and their families.

ALSO read: Celebrate Rare Disease Day and help raise awareness

Local patients – a 31-year-old speech, language and feeling therapist, Aimee-Kate Bosch; a 12-year-old car and rugby enthusiast, Javaun Theo Van Niekerk, and a five-year-old girl, Eden Green – were recently diagnosed with a rare disease that affects the liver and spleen called Gaucher.

“Gaucher arises when a specific enzyme called a lysosome cannot complete its function. The lysosome is responsible for breaking down fatty substrates and converting them into glucose,” said CEO of Rare Disease South Africa, Kelly du Plessis.  She said that even though there is no cure for Gaucher disease, a diagnosis is not a death sentence.

“The typical symptoms include bruising easily, a bigger stomach and nose bleeds. There are three types of Gaucher disease, one being the most prevalent. The type of Gaucher disease depends on the severity and degree of nervous system involvement. Gaucher disease can be diagnosed through a genetic test. However, due to lack of awareness of early signs and symptoms among medical practitioners who do not specialise in Gaucher disease, diagnosis can often be a lengthy process,” Du Plessis added.

Diagnosed in 1996, Bosch, who is also the Gaucher Alliance Board director, recalls the time when her parents received the diagnosis. She highlighted, “I was diagnosed when access to information and treatment was minimal and difficult to access in South Africa. My parents were told I have six months to live.”

ALSO read: Rare Disease Day puts spotlight on research and awareness

Kurt Green, Eden Green’s father, said, “We had to visit several general practitioners before Eden was diagnosed. At the diagnoses, we were given minimal facts, and medical practitioners spoke in medical jargon, so we did not understand what was actually wrong and what could be done.” He explained that Eden’s treatment was costly, and to make sure she gets the treatment she needs, they had to start fundraising.

Speaking about what needs to improve when it comes to diagnosis and treatment of the condition, Bosch said, “We need to educate our young doctors at the university level so that diagnosis is more seamless. Patients need to be aware of their treatment options, and treatments need to be more accessible and affordable.”

Du Plessis hopes that through the ‘I am 15’ campaign, greater awareness will translate to timely diagnosis, more patient support and ultimately improve patients’ quality of life. To learn more about rare diseases and the ‘I am 15’ campaign, visit https://www.rarediseases.co.za/.

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