​Neurofibromatosis is a rare genetic disorder that affects the nervous system, leading to the growth of tumours on nerve tissue throughout the body. These tumours can be benign or, in some cases, become malignant. 
The condition is divided into three main types: Neurofibromatosis Type 1 (NF1), Neurofibromatosis Type 2 (NF2), and Schwannomatosis. Each type has its own set of symptoms and complications, but all can significantly impact a patient's quality of life.
According to the Neurofibromatosis Clinics Association, globally, NF1 is the most common form, affecting approximately 1 in every 3 000 people. NF2 is much rarer, occurring in about 1 in 50 000 individuals, while Schwannomatosis is the rarest, with estimates ranging from 1 in 40 000 to as rare as 1 in 1.7 million.
Despite its rarity, neurofibromatosis affects more than two million people worldwide, making it more prevalent than some other well-known genetic disorders such as cystic fibrosis or Huntington's disease.
The symptoms of neurofibromatosis vary widely depending on the type and severity. NF1 often presents in early childhood with skin changes such as café-au-lait spots, freckling in the armpits or groin, and benign skin tumours called neurofibromas. It can also cause bone deformities, learning disabilities, and vision problems. 
NF2 typically appears in adolescence or early adulthood and is characterised by tumours on the hearing nerves, leading to hearing loss, balance issues, and sometimes facial paralysis. Schwannomatosis, the least understood of the three, causes painful tumours on peripheral nerves but does not usually affect hearing.
There is currently no cure for neurofibromatosis, but treatment focuses on managing symptoms and complications. This may include surgical removal of tumours, radiation therapy, and targeted drug treatments such as Selumetinib, which has shown promise in shrinking certain types of tumours in children with NF1. 
Pain management, physical therapy, and psychological support are also important aspects of care. Because the condition can progress and affect multiple systems in the body, patients benefit from regular monitoring by a multidisciplinary medical team.
In South Africa, access to specialised care for neurofibromatosis is limited, and awareness of the condition remains low. However, some public hospitals have developed expertise in managing complex cases. 
One such facility is the Charlotte Maxeke Johannesburg Academic Hospital, which houses Gauteng's only cleft and craniofacial unit capable of performing intricate surgeries for NF-related facial tumours. These procedures are led by Professor Tim Christofides, a highly trained plastic and craniofacial surgeon with extensive experience in managing high-risk cases.
A recent case that has drawn public attention is that of Mahlatsi Marema, a 15-year-old from the West Rand who suffers from a recurring facial tumour caused by neurofibromatosis. Mahlatsi has already undergone two surgeries at Chris Hani Baragwanath Academic Hospital, but the tumour has returned, which is a common occurrence with this condition. 
His case has now been taken over by the specialist team at Charlotte Maxeke Johannesburg Academic Hospital. Due to the complexity of the surgery and the need for a multidisciplinary approach, the procedure is being carefully planned. Mahlatsi's surgical plan will be finalised in the upcoming month.
The Gauteng Department of Health has informed Mahlatsi and his family that his case is a priority, and the surgery will be performed with the highest level of care and safety, given the risks involved, such as facial nerve damage and severe bleeding.
Neurofibromatosis may be rare, but its impact on individuals and families is profound. Continued investment in research, specialised healthcare services, and public education is essential to improve outcomes for those living with this challenging condition.