Est Read Time: 12 min(s) 4 sec(s)

29 November 2023  

Nthabeleng Ramoeli is the founder of Rare Disease Association Lesotho. Credit: Nthabeleng Ramoeli.

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A coalition of professional human genetics organisations, rare disease patient advocacy groups from six African countries and the health youth cluster of the Southern African Development Community (SADC) has published The Plight of Rare Diseases in Southern Africa: Health and Social Services Policy Recommendations – a position paper that looks into the status of rare disease in the region.  

Lesotho’s Nthabeleng Ramoeli is the co-author of this position paper. Also, Ramoeli is a rare disease patient with a connective tissue disease – Ehlers-Danlos Syndromes (EDS) – a disease that can affect a broad spectrum of the body systems. Her personal journey with EDS motivated her to co-found Rare Disease Lesotho Association in 2017.

In this comprehensive interview, Pascalinah Kabi, editor of Uncensored News, delves into the intricate landscape of African challenges related to diagnosis, treatment, and health equity. She engages in a thoughtful discussion with Ramoeli, an African leader in the rare disease community.

Uncensored: Congratulations on being a co-author of a very informative position paper on rare diseases in the southern African region. What motivated you and your co-authors to write that position paper?

Ramoeli: The authors of this paper, myself included, all belong to the rare disease community in some capacity. Each of us either serves as the founders of rare communities in our respective countries or as medical practitioners within sub-Saharan Africa, covering Lesotho, Botswana, Namibia, Tanzania, South Africa, and Zimbabwe.

We are all touched by rare diseases and have established foundations to represent and address these conditions. Personally, I am the founder of the Rare Disease Foundation in Lesotho, navigating life as both a rare patient and someone diagnosed with a rare disease.

My personal journey led me to recognise the disparities faced by those in Lesotho’s rural areas with rare diseases. Having the ability to travel to different countries for health assistance, I felt a responsibility to assist those who lacked such resources.

In 2017, I returned to Lesotho with a mission to help others facing the challenges of rare diseases. One poignant encounter involved a lady whose child urgently needed a life-saving operation. Witnessing this critical situation prompted the establishment of the Rare Disease Association Lesotho.

Addressing the dire nature of these operations, which often cost one or two million Maluti, became a central focus. Complicating matters, Lesotho lacks the specialists and facilities needed to stabilise rare patients, necessitating trips to South Africa. Unfortunately, South Africa’s own challenges with rare diseases often leave Lesotho patients on waiting lists, without the luxury of time that rare disease conditions demand.

Rare conditions, particularly those invisible to the naked eye, pose unique challenges, as people may not take them seriously. A vivid example is a little girl I assisted with kidney and salt retention issues. An emergency, triggered by a seemingly small incident, could require immediate transfer to Bloemfontein in South Africa, where prioritisation favours South African citizens.

This paper emerged to bring attention to these critical issues. Its essence lies in presenting a perspective not typically considered – one that does not stem from a Westernised viewpoint. Attending international conferences on rare diseases often left me questioning my presence, as the discussions seldom resonated with the distinct challenges we face in southern Africa.

While the physical struggles of rare conditions are universal, our paper emphasises the unique underlying issues faced by individuals in our region. It seeks to bridge the gap and ensure a more inclusive understanding of the complexities surrounding rare diseases. Rare conditions have other underlying issues.

Uncensored: Could you please elaborate more on the underlying issues to which you are referring?

Ramoeli: These encompass social issues with environmental, spiritual, and other dimensions. While logistical challenges exist across Africa, they are not universal to every country. In the case of Lesotho, where access to medical care involves travel, the process demands careful logistical planning.

For instance, despite having Queen ‘Mamohato Memorial Hospital (Lesotho’s sole tertiary hospital), some rare disease patients reside in areas far from this facility. Take a patient in Mokhotlong, where there is no nearby clinic, and access to the village requires a 4×4 van in Ha Rasoloane. In such cases, individuals must make logistical arrangements to see a doctor during emergencies.

This involves hiring a van to transport them to a clinic, which then facilitates their transfer to Queen ‘Mamohato Memorial Hospital in Maseru. The logistical challenges become a nightmare, especially considering that flare-ups are unpredictable and happen suddenly.

Often, villages only have one van, and the owner may require fuel expenses. In situations where funds are lacking, community contributions become necessary. While navigating these logistical challenges, time becomes a critical factor for our patients.

Complicating matters, flare-ups can occur at any time, even in the middle of the night. Unfortunately, Western countries do not experience the same logistical nightmares as we do; these are issues they are unfamiliar with. Their concerns revolve around medical aid not covering specific procedures, whereas, for us, medical aid is often the last thing on our minds.

Uncensored: When you mention someone from Mokhotlong, they are not familiar with the concept of medical aid.

Ramoeli: Indeed, medical aid is the least of our concerns. We have numerous hurdles to navigate before even delving into discussions about medical aid. The fundamental question is whether a patient can reach the doctor. Matters concerning medicine and finances will be addressed only after we have tackled the primary challenge of ensuring that a person can access medical care.

Uncensored: You bring to mind a mother with two sons diagnosed with Batten disease. Initially residing in Matsieng, an urban area in Maseru, she had to relocate and rent a house closer to Queen ‘Mamohato Memorial Hospital to be nearer in case of complications. The point I want to emphasise is that while Mokhotlong may be understandable, even in Maseru, people go through significant challenges.

Ramoeli: Look, I was just providing an example of an extreme situation, but I am glad you grasp that our issues extend beyond hospitalisation and dealing with rare conditions. What I have observed with Westernised perspectives is that when they discuss rare conditions, it often comes from a position of privilege. Do not get me wrong, I am not diminishing the legitimacy of their issues; they are real, and their definitions and research are invaluable due to their longer engagement with rare disease.

However, they often fail to engage with us on our terms. I often use the analogy of someone delivering 40 computers to a village without electricity. The better approach is to ask what we need, allowing us to express that we require solar-powered classrooms or connections to a generator. Sometimes, solutions are offered to problems that are not immediate.

The entire motivation behind writing this paper is to shift the discourse on rare conditions to an African perspective. Medical books and revelations often describe symptoms based on certain features, like red or pink flashes on the cheek. But what about symptoms for dark-skinned individuals? That description would not apply to us; we are not pale.

There needs to be an alternative prognosis, such as a rash below the eyes or darker eyes, something entirely different that aligns with our appearance. We are too melanated to exhibit the same symptoms, and there is not a medical study replicating our physical characteristics. That is why we initiated this effort—to highlight the necessity of writing papers from our unique perspective.

Uncensored: The paper suggests the necessity of a rare disease definition that spans the Southern African Development Community (SADC) region. What has been the response from the regional governments?

Ramoeli: We are making an effort; we will see. There has not been much response thus far, and we are hopeful for a positive outcome. In September, during the United Nations gathering, governments and other stakeholders pledged to prioritise people with rare diseases in each of those countries. We aim to hold them accountable for this commitment made openly.

In previous attempts to secure funding, we were often told that our rejection was due to our small numbers, a claim we dispute. The math speaks for itself. With over 20 000 types of rare conditions, affecting one in 2,000 of every population, the numbers are there. The challenge arises when focusing on a single condition, but when considering all rare conditions collectively, the numbers are significant.

Many people had not realised the extent of those affected by rare conditions. The launch of the Rare Disease Association Lesotho and the subsequent five months saw a consistent rise of 50-100 patients only in Maseru, as our campaigns have yet to cover all nine remaining districts. These are individuals who sought us out through word of mouth.

Just imagine the impact of comprehensive community-based campaigns, reaching people with rare diseases, helping them overcome stigma, and aiding in diagnosis—especially considering that many individuals are sitting undiagnosed.

This is in stark contrast to the lady you mentioned who is fortunate to have a diagnosis for her kids. I am curious about where her kids received their diagnosis.

Uncensored: The kids received their diagnosis in Bloemfontein after a South African good Samaritan doctor paid, from their own pockets, for the samples to be shipped to America.

Ramoeli: Batten is one of the most challenging diseases to diagnose. I do not know about her ancestors, but that lady is truly blessed; not many people can claim such a fortunate outcome. She stands among the fortunate few because many individuals perish while seeking such a diagnosis.

Uncensored: When you come together as a community with rare conditions, what are some shared experiences in your journeys as rare disease patients?

Ramoeli: The stigma is beyond comprehension, and everyone feels its weight. Despite having support, there are instances when in-house support falls short. I have heard people say countless times, “Are you sick again?” It’s chronic, not curable. It never goes away; there are just better days.

The abuse that accompanies being rare is extraordinary. Young children share stories of mockery and abuse at school, while working individuals speak of mistreatment by co-workers because rare condition patients cannot perform as fast as others can. During a flare-up, movement becomes impossible.

There is an unspoken fear in rare communities that deserves attention. Many individuals diagnosed with rare diseases at a young age ponder their future, questioning if they will ever find a spouse. It is a genuine concern that needs addressing. Imagine living with the constant doubt of your worthiness of love due to illness.

In my global journey joining various groups, I have encountered people sharing their experiences of abusive relationships. Due to the rarity of their conditions, some lower their standards and end up with narcissistic partners who assert, “You should be grateful someone like me can love you.” People are told they are unlovable because they are sick. These are challenges faced by young kids.

Society fails to provide a comfortable space for individuals to live their lives. Mockery is prevalent. I vividly recall a disturbing encounter with an older man. My condition affects my joints, muscles, and organs. During a flare-up in my leg, I limped.

While waiting in line at the print shop in Pioneer (Mall in Maseru), I thought the man was genuinely inquiring about what happened. Before I could respond, he began laughing and mocking me in front of others, making inappropriate comments about sex-related issues. It was a disgusting and unforgettable experience.

Uncensored: Rare or not, no one should have to endure that.

Ramoeli: That is a violation in so many ways, and people do not recognise it as such. I felt deeply violated by this gentleman. I did not even get a chance to explain that I am sick. Initially, I thought it was a joke, and I was about to say, “These joints of mine…” I had my medical card with my disease information, ready to show it.

But then, I realised that this man was not genuinely interested in knowing or helping; he was just being insensitive. I think this is one reason why many of us avoid public spaces.

I consider myself lucky as an introvert, but I can empathise with extroverted individuals who now feel compelled to stay indoors. It is a complex issue, and there is not enough time in the day to fully explain. However, regarding your question, there are overwhelming challenges: stigma, delayed diagnosis, and similar mistreatment by both professionals and those around us. Feeling lonely in a crowded room is a common sentiment in the groups.

However, during our gatherings, it is beautiful because we are all on the same page, and no one has to justify themselves. For instance, if I mention fatigue, I do not need to elaborate to the rare disease community. When you say you have a flare-up and feel fatigued, they instinctively say, “Go and rest.” No questions asked.

You are not seen as a burden because that community comprehends you at your core. When a person with a rare condition expresses tiredness, it is not the same as regular fatigue. It is not due to an exhausting activity; it is because their body is constantly fighting against itself, trying to survive each day.

The disparity is significant. Even though they live daily lives like everyone else, their bodies are engaged in a perpetual struggle for survival. Whatever fatigue you experience, multiply that by ten for individuals with rare conditions.

Uncensored: Let us discuss health equity; once a person is diagnosed, the struggle to afford life-saving medication becomes a daunting reality. Could you address this issue?

Ramoeli: Firstly, no average human being—regardless of nationality, I am just being realistic—can afford the cost of being rare. Let me break down my expenses during my university days. I consulted five different specialists. My diet alone cost over M2,500 ($134). I engaged with a medical fitness professional to help maintain my strength to walk. These specialists, mind you, I have to see monthly and they are not the same doctors I see just to stay alive.

Sometimes, I even have to travel to different countries to see certain specialists. Neither I nor the average person has that kind of money; I still have bills to pay.

Consider my special diet bread, which costs M50 ($3) and is only half the size of a normal loaf. Now, think about a local child with the same condition whose parents cannot afford it. A significant aspect of my condition involves adhering to a strict diet to avoid hospitalisation. Yet, my monthly diet expenses during my university years were around M3,000 ($161). Realistically, nobody has that kind of money lying around.

So when you talk about equity, what equity exists when there is no equality?

Unlike some places where the government subsidises essential items, we lack such provisions. Do not talk about equity when there is no foundation for equality, where basic foods should be met without becoming part of your expenses.

If people with rare conditions had access to transport coupons, it would be helpful. In other countries, there is a disability card granting free travel on trains and buses, along with discounts on certain foods.

I recently learned that blind individuals get discounts at McDonald’s overseas; unfortunately, such systems are absent in our (African) countries. While the Lesotho government’s disability grant attempts to assist, let us be honest—it is something, considering Basotho have nothing, but it does not offer substantial help.

Uncensored: Finally, what is your message to Basotho and the entire world regarding rare diseases?

Ramoeli: That is a challenging question. When it comes to rare diseases, I believe people need to embrace more compassion. Basotho should cultivate an open-mindedness to learn. Honestly, it does not require much for an individual to broaden their understanding and acknowledge that everyone is unique, fostering compassion.

If someone shares their struggles, it simply takes active listening and an attempt to empathise with their perspective. Compassion does not necessitate personal experience; it is about acknowledging and understanding another person’s pain. If we evolve into a society that supports one another, we can build a better, more compassionate community.

I have encountered people expressing food shortages, and when I inquire about local assistance, they respond by saying there are people in the village, but they are not relatives. Why should help be contingent on relation?

That is my message – people should strive to be kinder and more considerate because, in most cases, rare diseases are incurable. While I can not really say something to that, I believe kindness can make a significant difference. Demonstrating patience and love towards these individuals, without constant reminders of their illness, can be incredibly impactful. Sometimes, all we need is someone to be present.

Commencing today, we are launching a four-part story series on rare diseases in Lesotho and southern Africa.