Aimee-Kate Bosch, 31-year old speech-language and feeding therapist, Javaun Theo Van Niekerk, 12-year-old car and rugby enthusiast as well as Eden Green, 5-year old girl, are but three of 3.7 million South Africans living with one of 7 000 rare diseases.
Bosch, Van Niekerk and Green were all diagnosed with a rare disease that affects the liver and spleen called Gaucher.
‘Even though there isn’t a cure for Gaucher disease, a diagnosis is not a death sentence’. This was the sentiment shared by patients and experts alike at a webinar hosted by Rare Disease South Africa with by global biopharmaceutical company Takeda. This webinar highlighted Gaucher patient journeys which falls in line with the I am 15 campaign, where Takeda and Rare Disease SA have been shining a spotlight on rare diseases in South Africa.
Gaucher arises when a specific enzyme called a lysosome cannot complete its function. “The lysosome is responsible for breaking down fatty substrates and converts into glucose,” said CEO of Rare Disease South Africa, Kelly du Plessis.
“The typical symptoms include bruising easily, 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 of Director, recalls the time when her parents received the diagnosis. “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,” she explained.
Although more than ten years have passed since Bosch was diagnosed, patients that are diagnosed today still face similar challenges and progress is still too slow. “We had to visit several general practitioners before Eden was diagnosed. At diagnoses, we were given minimal facts, and medical practitioners spoke in medical jargon, so we didn’t even understand what was actually wrong and what could be done,” Kurt Green, Eden Green’s father, said. Thanks to advances in science and technology, more treatment options are now available for patients with Gaucher. “Most patients undergo the enzyme replacement therapy treatment, but there are other treatments as well, such substrate reduction therapy and mobility aids,” Bosch said.
Despite the strides in treatment options, patients still struggle to access these treatments due to the high cost and the fact that rare diseases are usually not covered by medical aid schemes. “Eden’s treatment is costly, and to make sure she gets the treatment she needs, we had to start fundraising,” he explained.
Speaking to 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/
