Lack of knowledge and awareness make rare diseases hard to spot and treat

Lack off

In 1997, when she was only 12 years old, Mahlatse Mashala started noticing lumps on her arms and legs. At first she thought nothing of it. But soon the lumps grew bigger and covered more of her body. 

“I didn’t know what was wrong with me. I was so scared and confused,” she tells Health-e News. “The tumours were not painful. But they covered my whole body and I was uncomfortable to be around people.” 

At school other children called her names. And her neighbours in Ga Modjadji, one of the 150 villages in Bolobedu in Limpopo, thought she was bewitched. They suggested that she consult a traditional healer. 

Elliot Mqansa Makhathini a researcher in African and Western medicine at the University of KwaZulu-Natal says there’s a stigma around unknown diseases, and some feel the need to consult traditional healers when facing uncertainty. 

“Traditional healers have credibility in their communities and share the same beliefs as the people who are consulting,” explains Makhathini. “Most people go to traditional healers because of the way they contextualise illnesses, causes and prevention. They want to get the ‘why me’ question answered.” 

While Mashala’s parents didn’t take her to see a traditional healer, her father visited one on her behalf. He would come home with different concoctions from different healers for her to drink and bathe in – all with hopes of getting rid of the tumours. 

“Seeing that the concoctions were not working, my father eventually took me to a medical doctor,” she recalls. “By that point, I had a tumour in my back that had grown to the size of a golf ball. It made my life difficult. People called me ‘the girl with a breast on her back.”  

Searching for answers

“My family thought it was cancer, but all the tests came back negative,” Mashala says. 

Her parents took her from one doctor to another but were told the same thing: their daughter has neurofibromatosis type 1 (NF1), a genetic disorder with no treatment or cure. 

 “My father called all the elderly people in my family trying to find the root cause of the disease. My grannies from both my father and mother’s side said they did not know anyone with NF1 in the family.” 

Mashala is the first and only person in her family to be diagnosed with the condition. She knew nobody else with the condition, until she joined a Facebook group called ‘Faces of Neurofibromatosis’ which has more than 13,000 followers.

“When I first heard about my condition, I wanted my parents to tell me that I was going to be fine. I desperately wanted them to tell me that the tumours would go away. 

“The tumours that had grown all over my body – my face included. I could not even look at myself in the mirror,” she says. 

NF1 is a genetic disorder characterised by the development of non-cancerous tumours along nerves and skin. 

“Other symptoms may include cafe-au-lait spots (pigmented skin lesions), learning disabilities and skeletal abnormalities,” says Monica Araujo, a genetic counsellor and lecturer in the division of human genetics at the University of Witwatersrand,. 

Araujo explains that the condition can be challenging to diagnose, especially in milder cases. This is because of  the variability of symptoms. Genetic testing may be needed in some cases which contributes to further delays in diagnosis.

Worldwide, around 1 in 3,000 to 1 in 4,000 people have the condition.  

“Accurate statistics on the number of people living with NF1 in South Africa are limited. This is because of underdiagnosis and a lack of comprehensive data collection,” she explains.    

There is no cure for the condition. 

“Treatment focuses on managing symptoms and complications. Regular monitoring and medical care are essential. Surgical removal of tumours may be considered in certain cases,” Araujo says.  

Since Mashala was first diagnosed in 1997, she’s had 25 tumours surgically removed because of how big they grew. 

Some of the tumours removed left permanent scars

“We were privileged because my father was a policeman, so we had medical aid. This means I’ve been able to get all the treatment I needed in the private sector,” says Mashala.

“At the moment there is no treatment for NF1. It is only when one of the tumours grows bigger that I go to the doctor to have it removed. The recovery period doesn’t take longer than a week.”

Mashala is one of the 8.9 million of the 62 million people in South Africa who belong to a  medical scheme. The rest of the population rely on the state for their healthcare needs. 

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“Disparities regarding access to specialised care and resources between public and private healthcare systems exist,” says Araujo.  

She explains that health services in the private sector are more expedited and personalised. But these come at a monetary cost to the patient. On the other hand, public clinics and hospitals already face challenges of limited resources and long waiting times. Providing specialised care for rare conditions like NF1 will be an added difficulty.

It’s unlikely that a person with NF1 would be able to get surgery for the tumours in a state hospital.

The national health department doesn’t have a policy outlining care for people with rare diseases. The department did however update the clinical guidelines for genetic services in 2021 to improve access to genetic services in the public sector. Genetic services include screening for genetic disorders. However this policy is yet to be implemented. 

Professor Lesley Bamford, a child health specialist in the national health department, says there are a number of challenges when it comes to treating patients with rare diseases in public health facilities.

These challenges include late diagnosis due to lack of awareness among health workers, lack of access to specialised care especially where the condition requires care from a multi-disciplinary team.  

“More common rare conditions are covered in the essential medicines list and standard treatment guidelines. But very rare conditions are not. As a result, patients may not receive correct treatment especially at primary healthcare  facilities,” she says.  

In some cases, treatment may not be available. This may be because the medicines are not registered in South Africa or treatment is not affordable.

Living life to the fullest

Mashala’s illness has had a massive impact on her mental well-being. 

There was a time she thought she was not good enough and that impacted her confidence. She would wear clothes that covered her whole body to hide the tumours. 

But those days are behind her. 

On the day she welcomed Health e-News in her Johannesburg flat, she wore white shorts  and a crop top. Her outfit reveals the tumours that mark her body. The tumours are the size of peanuts and she has visible scars where other tumours have been removed. 

“I have come to accept that these tumours are not going anywhere. I cannot hide myself forever,” she says. “I decided to live my life for a purpose and stop feeling sorry for myself.” – Health-e News


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