Rare Diseases Lesotho Association: revolutionising rare disease care and raising awareness in Lesotho

15 December 2022

Nthabeleng Ramoeli is the founder and CEO of Rare Diseases Lesotho Association. Here, she explains how her own experiences with Ehlers-Danlos syndrome led her to establish the organisation. She also shares her hope that the UN Resolution on Persons Living with a Rare Disease will bring positive change to her region

An array of painful and unexplained symptoms

Nthabeleng was born in Lesotho in southern Africa in 1991. For the most part, she seemed like any other child, but she was unusually flexible and found sitting cross-legged during story time really uncomfortable.

“When I was 11 or 12, I started realising that my body really didn’t like me! Especially in winter, when I was always in pain—mostly with my joints. But I also had extreme eczema and an intolerance to any skin product. My skin would just start peeling off on its own,” she says.

One day, in a tussle with a classmate, her jaw suddenly dislocated, causing her excruciating pain. From then on, dislocations and subluxations (partial dislocations) became a frequent and unwelcome part of Nthabeleng’s life. Sadly, they also led to accusations that she was attention-seeking and lazy.

The reality was that each dislocation was flooding her body with pain—“a pain that hit the centre of my brain and spread out from there. I think if it was anchored in one area, you’d probably just go mad,” she says.

“The more dislocations I got in a certain area, the weaker my body got. It got to the point that I was almost constantly in pain. Actually, not being in pain was the rare part.”

As well as dislocations, Nthabeleng started to experience serious gastric issues. In one instance, she tasted a soup and within seconds her stomach had ballooned. Scans revealed how her intestines were twisting out of position, but surgery was ruled out, for her body is slow to heal, and there was also no guarantee a repair would be permanent. The only way forward was for Nthabeleng to methodically eliminate foods from her diet—a challenging process that left her afraid of everything she ate.

When she began university, Nthabeleng started experiencing neurological issues too, collapsing for no apparent reason. “I didn’t take it seriously,” she says wryly, “I just added it to the list of problems that I have.” When testing found no cause for the collapses, Nthabeleng was told that it was all in her mind.

Just two days later, Nthabeleng collapsed again. This time, she fell into a coma that would last for two weeks, during which discussions took place about withdrawing her life support.

When she woke from the coma, she was admitted to a mental hospital where there were facilities for a thorough neurological investigation. It was clear that she was having seizures, but her doctors couldn’t find a specific cause for them. Nthabeleng began looking for answers herself.

She met a Canadian doctor online, who suspected she had a rarer type of Ehlers-Danlos syndrome (EDS). Soon afterwards, Nthabeleng received her official diagnosis of type 3 and type 11 EDS. Diagnoses of several other rare neurological, gastric and cardiovascular conditions would follow. After so many years of having her health issues ignored and even dismissed as figments of her imagination, this breakthrough brought her great relief.

The new challenge though was getting effective care: doctors had little to no knowledge of the condition, or its treatment.

Rare Diseases Lesotho Association

Nthabeleng soon learned she was far from alone in having struggled to get a diagnosis and effective treatment. “There were many people in Lesotho facing the same issues but lacking the resources I had,” she says. Feeling compelled to help them, Nthabeleng started a non-profit organisation called Rare Diseases Lesotho Association (RDLA).

“Raising awareness for EDS wasn’t going to work because the population of Lesotho is only about 2 million people. When it comes to advocacy and getting people to listen, numbers speak, so I thought I could advocate for rare conditions as a whole.”

“Our problems may not be medically identical, but psychologically and socially, the experiences are the same,” Nthabeleng adds. She believes there is not enough rare disease education for health care professionals and not enough awareness in wider society either. This means that, even now, families in the region can feel stigmatised by a diagnosis.

“Parents often struggle with the knowledge they passed a genetic condition on—this is one of the biggest problems. We need to pay attention to them as well as to their children: if the parent isn’t 100%, they can’t be as supportive for the child,” she says.

Nthabeleng is hopeful that society will soon become more accepting of rare disease, just as it has for AIDS. She heralds the UN Resolution on Persons Living with a Rare Disease as a transformative opportunity. She hopes governments will now work towards achieving a greater awareness of rare disease, stronger health infrastructures and better access to medicines.

RDLA is now proudly forming partnerships with others, including Southern African Development Committee (SADC) and Rare Diseases International, to help drive change for rare disease patients.