RareX Conference in South Africa

By Rageema Livingstone,
President of the South African OI-association (Associate OIFE member)

For four days, Johannesburg pulsed with the collective energy of hope and collaboration as RareX unfolded, hosted by Rare Diseases South Africa (RDSA). This pivotal event, held from February 14th to 17th, 2024, brought together a diverse tapestry of voices – patient groups, healthcare professionals, government representatives, and international advocates – united by a single, powerful purpose: empowering individuals living with rare diseases in South Africa and the African Continent.

African Woman in colorful dress in front of conference poster

A platform given to patient voices

The conference buzzed with a unique energy. One of the conference’s most powerful and unique facets was the platform given to patient voices. For many attendees, it was the first time they could connect with others facing similar challenges, fostering a sense of belonging and shared understanding. Patient groups, representing a spectrum of rare conditions, shared their lived experiences, challenges and triumphs.

Young adults diagnosed at a young age, radiated resilience and determination to forge their own paths. Tears flowed during emotional testimonials, while laughter erupted during sessions exploring the unique joys and struggles of living with a rare disease. The air crackled with the shared understanding of living a life with rare disease, fostering a sense of solidarity and belonging.

Presence of representatives from the World Health Organization (WHO)

Beyond patient voices, the conference saw a powerful confluence of healthcare professionals. Doctors, researchers, geneticists, and pharmaceutical representatives all engaged in lively discussions, seeking solutions to diagnostic hurdles, treatment access barriers, and the need for more specialized care. The presence of representatives from the World Health Organization (WHO) and the national government health department signalled a crucial step towards building stronger partnerships and prioritizing rare diseases in national healthcare agendas.

The exchange between patients and healthcare professionals was equally crucial. Doctors, researchers, policymakers and the rare disease community engaged in open dialogues, seeking to bridge the knowledge gap and identify solutions to improve diagnosis, treatment, and access to care.

Ms. Alexandera Heumber Perry, the Chair of Rare Diseases International, graced the event with her presence, lending her expertise and amplifying the South African experience on a global platform. Her keynote address resonated deeply, highlighting the importance of international collaboration and advocacy in achieving equitable access to healthcare for all, regardless of the rarity of their condition.

African Woman and two fair-skinned People with badges

Elaboration of action plans

The conference went beyond mere dialogue. Action plans were formulated, aiming to improve early diagnosis, enhance research efforts, and streamline access to treatment and support services. The commitment from government representatives to investigate allocating resources and implement policy changes offered a glimmer of hope for the future. The conference culminated in the development of a collaborative action plan, outlining key areas for improvement. These include:

• Improving access to diagnosis and treatment: This includes advocating for streamlined referral systems, creating centres of excellence, and affordable access to essential medications.

• Raising awareness and reducing stigma: The conference emphasized the need for education campaigns aimed at both the public and private healthcare professionals to dispel myths and increase understanding of rare diseases. They also incorporated the training of traditional healers to assist in getting patients in traditional communities to hospitals and dispel stigmas by working with the doctors to get the patients the care needed while still respecting their cultures and traditions.

• Building research capacity: Investing in research specific to rare diseases prevalent in South Africa and Africa is crucial for developing effective treatments and improving patient care. The Undiagnosed Disease Programme (UDP) in South Africa, run by Prof. Shahida Moosa at Stellenbosch University provides an African example of how the above can be achieved: cutting-edge research using the latest in OMIC technologies to provide diagnoses to those still undiagnosed. At the same time, the UDP provides a platform to train the next generation of African healthcare workers, medical geneticists, genetic counsellors, scientists and bioinformaticians in anticipation of the genomic revolution reaching our shores. The UDP also incorporates patient and parent voices and provides access to community and an opportunity for us to play a pivotal role in the research which affects us and our families.

The Impact of the venue

The impact of the conference extends far beyond the walls of the venue. The connections forged, the knowledge exchanged, and the renewed sense of purpose will ripple outwards, empowering patient groups, influencing policy decisions, and ultimately, improving the lives of countless individuals and families.

The conference added an extra workshop day designed to upskill patient support groupTwo women in front of conference poster leaders. Topics such as leveraging social media for NGO’s, fundraising, driving patient-centred healthcare policies in healthcare and addressing compassion fatigue and burn-out were covered acknowledging the important role of patient leaders and supporting them in their respective patient communities.

The Rare Diseases Conference in South Africa was more than just an event; it was a symbol of hope, a testament to the power of collaboration, and a call to action for a more inclusive, holistic and equitable future for all.

The journey to RareX mirrored the diagnostic odyssey we endured – meandering paths littered with dead ends and misdiagnoses. Each session mirrored the battles we fought – for accurate diagnosis, for access to specialists, for clinical trials, for simply being heard. But unlike the isolation of navigating these battles alone, RareX was a chorus of shared experiences, a symphony of unwavering support.
I saw myself reflected in the tired eyes of other parents, yet their spirit remained unbroken. Each story was a poignant reminder of the invisible scars etched by the diagnostic odyssey; a silent war waged upon families. This war transcends generations, casting a long shadow of uncertainty on our children’s futures.

Pleadings for being more than a memory

Therefore, I plead – not just for my child, but for the countless others trapped in similar battles – that RareX be more than a memory. I see her, my daughter, being amongst this vibrant community, absorbing the energy, the knowledge, the unwavering hope. I envision her future, not defined by limitations, but empowered by the collective fight for better diagnostics, more research, and a healthcare system equipped to handle the complexities of rare diseases.

I would like her to attend future conferences witnessing others thrive with rare diseases to fuel her own resilience and inspire her to become an advocate for herself and others. It will provide her with knowledge to access cutting-edge research and clinical trials which opens doors to potential treatment options and improves her understanding of her own condition. A sense of community connecting with peers and mentors creates a vital support network, fostering aAfrican girl in wheelchair sense of belonging and reducing isolation. Exposure to success stories and patient-led initiatives ignites her passion to contribute to the rare disease community and contribute to future advancements.

RareX offered a glimpse into a world where my daughter’s rare disease doesn’t define her future. This conference marks a significant step forward, echoing the sentiment of nothing about us without us, but the journey is far from over. The rare disease community in South Africa and across Africa will continue to advocate for their needs, collaborate with stakeholders, and work tirelessly to build a brighter future for all those living with these complex conditions. Let’s continue weaving this tapestry of hope, ensuring that future generations of rare warriors have the tools and support they need to thrive.

You can find more Information about the conference here.

This article was first published in OIFE Magazine 1-2024.

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