April 10, 2024

Limited awareness and understanding pose challenges in identifying and treating rare diseases

In 1997, at the age of 12, Mahlatse Mashala began noticing lumps appearing on her arms and legs. Initially dismissing them, she soon found the lumps growing larger and spreading across her body.
"I was terrified and confused," she shares with Health-e News. "Though the tumors weren't painful, their presence made me uneasy, and they covered my entire body, making social interactions uncomfortable."
At school, she faced ridicule from classmates, and in her community of Ga Modjadji, situated in Limpopo's Bolobedu region, neighbors speculated that she was under a spell. They suggested consulting a traditional healer.
Elliot Mqansa Makhathini, a researcher in African and Western medicine at the University of KwaZulu-Natal, notes the stigma surrounding unknown diseases, often leading individuals to seek guidance from traditional healers when faced with uncertainty.
"Traditional healers hold sway in their communities and share the same beliefs as those seeking consultation," explains Makhathini. "People often turn to them seeking explanations for illnesses, their causes, and preventive measures, hoping to unravel the 'why me' question."
Although Mashala's parents didn't initially consult a traditional healer, her father did so on her behalf, returning home with various remedies from different healers in hopes of curing the tumors.
"When these concoctions failed, my father finally took me to see a medical doctor," she recalls. "By then, a tumor on my back had grown to the size of a golf ball, significantly impacting my daily life. People began calling me 'the girl with a breast on her back.'"
Seeking answers, Mashala's family suspected cancer, but all tests came back negative. Numerous doctor visits confirmed she had neurofibromatosis type 1 (NF1), a genetic disorder with no known cure.
"My father consulted with our elders, hoping to trace the root cause of the disease. However, neither side of the family had a history of NF1," she explains.
Mashala, the first and only person in her family diagnosed with NF1, initially felt isolated until she connected with others through a Facebook group called �Faces of Neurofibromatosis.'
"When I first learned of my condition, I desperately wished my parents would assure me everything would be fine and that the tumors would vanish," she shares. "The tumors, which had spread across my body, including my face, left me unable to face myself in the mirror."
NF1 is characterized by the development of non-cancerous tumors along nerves and skin, often accompanied by cafe-au-lait spots, learning disabilities, and skeletal abnormalities.
Monica Araujo, a genetic counselor and lecturer at the University of Witwatersrand, highlights the diagnostic challenges of NF1 due to its variable symptoms, often necessitating genetic testing.
While Mashala has undergone 25 surgeries since her diagnosis to remove tumors, she acknowledges her privilege in accessing private healthcare through her father's medical aid.
"At present, there is no cure for NF1," she shares. "I undergo surgery when necessary, with a relatively short recovery period."
Yet, for the majority of South Africans reliant on public healthcare, access to specialized care for rare conditions like NF1 remains limited due to resource constraints and long waiting times.
Despite the national health department's efforts to improve genetic services, challenges persist in diagnosing and treating rare diseases in public facilities, often resulting in delayed or inadequate care.
For Mashala, embracing her condition has been a journey toward self-acceptance and purpose. Though once shrouded in self-doubt, she now lives confidently, determined to defy societal norms and live life fully.