Betty Moleya
Pretoria - People with rare diseases or congenital disorders form a minority in society, and they receive minimal assistance and attention.
Monday was World Rare Diseases Day, which is aimed at making society aware that millions of people living with a rare disease around the world face inequitable access to diagnosis, treatment and care.
It also emerged that in South Africa one in 15 people are affected by a rare disease.
The CEO and founder of Rare Diseases South Africa, Kelly du Plessis, said they had acknowledged and invested in these patients in order to make significant changes to their lives.
The organisation fights to have rare diseases and congenital disorders recognised and treated.
“You may find only a single individual in a country living with a specific disease, making it incredibly difficult for them to find support and assistance, both emotionally and financially.
“We, as a society, need to bridge the gap to improved quality of life for those impacted by rare diseases and congenital disorders through advocacy and empowerment,” she said.
The organisation works to raise awareness and much-needed funds in February each year.
“Awareness through all forms of media and social media is a crucial part of advocacy, and aims to educate, change the mindset, and ultimately change the critical thinking of the public at large when it comes to rare diseases.
“All funds raised during February are used to educate the general public and empower the one in 15 people affected by diseases in South Africa to access life-saving health-care services and support for improved quality of life.”
Du Plessis said the diagnosis process itself was very costly as it often required multiple tests to rule out other possible causes before doctors could diagnose a specific condition through the process of elimination.
“Many medical aids will not cover the costs of diagnostic testing, and for others, the costs of treatments, even with a definitive diagnosis, are prohibitive.
“Early diagnosis and access to treatment is critical, hence the need for collective awareness and patient advocacy.”
Du Plessis said rare diseases were defined as conditions that affected one in every 2 000 people.
“Some of the common but rare conditions in South Africa include sickle cell disease, haemophilia, and systemic lupus.
“There are as many as 7 500 different, registered rare diseases, so while these are diseases we deal with more regularly in South Africa, collectively they are common, affecting an estimated 4.1 million South Africans.”
The challenges faced by the minority group is as a result of a lack of information on those diseases.
According to the World Health Organization, for many rare diseases, basic knowledge such as the cause of the disease, pathophysiology, the natural cause of the disease and epidemiological data is limited or not available.
“This significantly hampers the ability to both diagnose and treat these diseases. To address this challenge, public funding of fundamental research into the disease process remains necessary both at the national and global level.
“Rare disease patients are scattered across countries. As a result, medical expertise for each of these diseases is a scarce resource.”
Du Plessis called on the public to volunteer, donate and raise awareness of rare diseases.
Pretoria News