Read the Conversation
EF: You are celebrating 11 years with Rare Diseases in South Africa. How did this journey start, and what key milestones have you achieved?
KD: It all began with my son's diagnosis. My first-born child was patient zero; he was diagnosed with Pompe disease at 11 months old in 2010. He required enzyme replacement therapy, which was unavailable in South Africa or anywhere on the African continent. The problem was not just about availability; the treatment was not a registered product, meaning medical insurance was not obligated to cover it. I had no idea how severe the access issues were until I faced them.
After his diagnosis, I started advocating for him, and remarkably, he began his treatment just 10 days later. This was almost unheard of, especially for a product that was not registered and extremely expensive, yet we managed to get reimbursed. My reputation in the pharma industry helped get this done. This process made me realize that other patients were likely facing similar challenges. Desperate to find purpose in our painful journey, I began reaching out to others to see if I could help them. This is how Rare Diseases South Africa started. We began our work in 2010 and officially registered in 2013. Initially, we focused on Pompe disease, but soon, it became clear that many other rare conditions had similar stories and challenges.
EF: What is the level of awareness of rare diseases today, and what efforts can be made to increase it in South Africa?
KD: The level of awareness is improving not solely because of our efforts but also due to the ease of global communication through social media and the global citizen effect. This has led to a perception that these conditions are more common now because people engage with a larger community than they did 20-30 years ago. However, in the African context, myths, stigma, and cultural beliefs still need to be addressed. Awareness has increased, and more people now know or have spoken to someone affected by a rare condition, which was not the case when we started.
Given our passion for rugby, the "1 in 15" statistic of people with rare diseases is particularly relevant to us. We have used the analogy that one person in every rugby team could have a rare disease. Even members of the Springboks team have been diagnosed with rare conditions.
We have seen a lot of motor neuron disease cases among our rugby players, which has heightened awareness. Unfortunately, the action following this awareness is still somewhat lacking. People often perceive rare diseases as hopeless due to their high costs, rarity, complex treatments, and intricate nature of the diseases. This perception leads to a reluctance to engage, as it seems like an insurmountable problem.
One of our ongoing challenges is convincing people that addressing rare diseases can benefit the entire healthcare system. If we can get it right for rare diseases, it will also positively impact other disease areas. Working towards solutions for rare diseases raises the bar for everyone and improves other areas of healthcare. This improvement comes through the entire patient journey, starting with diagnostics. Enhanced diagnostic facilities benefit not just rare diseases but other conditions as well. An improved understanding of genetics can have wide-reaching implications, as many other diseases also have genetic predispositions. Furthermore, improving access to high-priced and innovative products will enhance access across all disease areas. There are many different elements to the rare disease discussion that have a positive knock-on effect on healthcare in general.
EF: In 2021, the Center for Epidemics Response and Innovation introduced new sequencing machines. How does this impact access to early diagnoses of rare diseases in South Africa?
KD: We need the capacity, and it needs to be local. Our diagnostic understanding is often hindered because we have novel variants of rare conditions specific to our region. When samples are analyzed and compared to the typical white European male, we miss a lot of localized nuances. South Africa is an intriguing demographic for study as a rainbow nation with a highly diverse genome.
Introducing advanced sequencing machines is a positive step, but my concern is that we lack the necessary expertise to support this advanced testing. We must develop the infrastructure and knowledge base to back up these tests. This includes understanding natural history studies, engaging with patients, and interpreting how genetic changes should influence treatment outcomes. The system will fail if we have advanced infrastructure but lack the expertise to interpret results in our context.
Over 30 years ago, we manufactured around 60% of our medications locally due to import restrictions. That capacity has diminished, and we must find ways to rebuild it sustainably. While the move toward advanced diagnostics is in the right direction, I worry that we are focusing too much on the MedTech diagnostic space and not enough on the supportive services needed to utilize that technology effectively.
EF: What strategies are you using to connect to the community and understand the needs of rare diseases in the specifics of localized efforts in South Africa?
KD: One example is the Luvansi Project, a grassroots initiative we are currently launching. Traditionally, there has been frustration with herbal and traditional medicine, often perceived as ineffective compared to mainstream medicine. However, when we started engaging with communities, we learned that 65% of South Africans seek traditional healing techniques before mainstream medicine. This approach meant changing our mindset to recognize that patients can benefit from both conventional and mainstream medicine, and these approaches can work in parallel. Instead of replacing or challenging their belief systems, we aim to expand them, showing that both systems can coexist and complement each other. This has led to more open and productive conversations.
We need to remember that before being patients, we are people. Healthcare often focuses solely on symptoms, neglecting the broader picture of the individual. We must step back and recognize that we treat whole people, not just symptoms. Health is only one aspect of a person's life, including spiritual and mental health. Unfortunately, 95% of rare disease patients are not offered any mental health support. This is a significant oversight. While we cannot solve every problem or provide every treatment, we can improve a patient's day through better pain management, spiritual support, and mental health care. When patients feel understood and better able to cope, their outcomes improve. These interventions often cost nothing but time. Listening is free.
Health literacy is another major issue. Whether from hospitals or industry manufacturers, corporate communication often uses complex, high-level terminology. Many patients do not benefit from a first-world education, and materials are often provided in English, which might not be their primary language.
To improve health outcomes, we must make information accessible to everyone, regardless of their background or education level. What is the biggest barrier to efficacy in drugs? Everyone says compliance. It is not. It is access.
EF: What are your priorities for 2024?
KD: We are in a challenging time, especially with the recent adoption of a new health insurance system and the upcoming elections. Beyond our usual advocacy for rare disease patients, we now face the challenge of understanding what healthcare access will look like in a few years with this new system. It is a completely different playing field. Our focus must include keeping up with general healthcare policy changes. Over the past few years, one frustration has been the government's response that the National Health Insurance (NHI) will eventually fix everything. But what do I tell patients today? "Just hang on, do not die this week; NHI is coming?" It is not practical. We have had to keep working in the present while the government shifts focus to the future, which does not help patients now. We need to ensure patients do not lose their current access while the new system aims to improve things.
There is a real fear that we may regress before we progress. What happens if we lose the access we have now? How will this be funded within the new system? Additionally, we must engage with unidentified patients. Millions need to access services and be accounted for in our system. Developing our registry and identifying these patients is a massive priority. The ethical consideration is whether we should seek out patients without being able to make a change. Even if we cannot offer commercial treatments, providing improved mental health or spiritual support makes a difference and is worth it. Our main priorities are continuous engagement, identifying previously unknown patients, and navigating the new healthcare system.
EF: How are you promoting the healthcare debate in partnership with other stakeholders to ensure you are aligned with how the agenda must move forward?
KD: We have realized the importance of developing our partnerships and actively driving this initiative forward. While there has been a notable emphasis on patient centricity, especially during COVID-19, it often feels superficial, like a mere checkbox exercise.
Despite having strong engagement with commercial, pharma industries, and health departments, there is a lack of communication between these entities. This fragmentation leads to stakeholders approaching solutions solely through their lens, without understanding others' perspectives. Sometimes, bridging this gap simply requires open dialogue. This is where our partnership program comes into play. We urge stakeholders to support our advocacy efforts comprehensively, not just where there is a commercial interest.
We are focused on breaking down barriers rather than reinforcing them, fostering clear lines of communication and openness. This approach is essential for driving real change because, without it, we risk developing solutions that only address our problems and exacerbate others. We have learned from years of experience that this approach is not effective.
EF: What accomplishments are you most proud of, and what can we expect for the next decade?
KD: Our greatest achievement is earning respect in our field without formal training. People are willing to engage with us and recognize us as experts because of our determination, passion, and willingness to seek knowledge. Patient advocacy was not something we planned as a career; it emerged from personal need. Despite our emotional bias, we can engage professionally with a strategic focus.
Moving forward, our goal is to break down barriers and drive sustainable changes in national health systems, both public and private. We aim to improve the patient journey, ensuring patients feel heard, treated holistically, and supported. Achieving this would signify meaningful progress for us.
