The countdown to Rare Disease Day 2021 has officially begun. Taking place on 28 February, the annual event will see Rare Diseases South Africa (RDSA) ‘Redefining Rare’.
In order to create #RareAwareness around the challenges that people living with a rare disease and their families face everyday, RDSA has likened the ‘new norm’ to ‘living rare’.
Kelly Du Plessis, CEO and founder of RDSA explains, “In light of the current global pandemic, ordinary citizens have experienced the reality of those living with rare diseases and other life-threatening diseases. Rare disease patients are immuno compromised citizens and their movement is usually limited from the time they receive diagnoses. For many, their early childhood marks the beginning of living with a heightened awareness about their surroundings and health.”
She continues, “For rare disease patients, avoiding crowds for long periods, touching surfaces that may expose them to germs, and constantly washing and sanitising their hands is standard.”
Since the outbreak of coronavirus, people have experienced isolation, fear of the unknown, uncertainty about the future and underlying anxiety about contracting the virus. This is commonplace for rare disease patients as they grapple with these concerns on a daily basis.
While the public has adjusted to living under the restrictions imposed by the government during the outbreak and managing health- and care-related tasks alongside work, school and leisure time from home, ‘life in lockdown’ is similar to the experience of those who have lived with a rare disease.
Du Plessis adds, “There has been extraordinary scientific progress and medical advancements in the development of a vaccine for the coronavirus and it offers a ray of hope for the pandemic’s end. It is a preventative measure for protecting against a Covid-19 infection. This means that life could go back to normal by the end of 2021. But circumstances for those living with rare diseases will remain unchanged.”
There are over 7,000 rare diseases that affect over 300 million people worldwide. In South Africa, there are approximately 4.1 million rare disease patients. For the vast majority of these rare conditions there is no known cure.
Due to the low prevalence of each disease, medical expertise is rare, knowledge is scarce, treatment and care inadequate and research limited. Despite their great overall number, rare disease patients are the orphans of health systems, often denied diagnosis, treatment and the benefits of research.
“Healthcare protocols need to adopt an inclusive model that is beneficial for all South Africans impacted by life-threatening rare diseases,” says du Plessis.
At the end of 2020, RDSA achieved agreement between a broad range of stakeholders including medical aids, regulatory offices, industry partners and pharmaceutical companies on a National Rare Disease Framework and Strategy for South Africa. This achievement represents several years’ work by the non-profit to raise awareness and increase access to medical care for a range of rare diseases.
With this is mind, RDSA plans to use this framework to redefine what it means to be ‘rare’ as well as advocate for a commitment from industry and government to change rare disease policies and protocols.
Du Plessis concludes, “Just as collaboration has taken place to produce and procure a vaccine, an unprecedented commitment has been shown by our government to keep our citizens safe during this time, and we hope to drive the necessary changes to ensure that all patients with rare diseases receive access to support and life-saving treatment for improved quality of life.”
In addition to supporting #RareAwareness, the public is encouraged to get involved by demonstrating what makes them rare and to ‘Share Your Rare’ on any social media platform.
About Rare Disease Day
A patient-led campaign, Rare Disease Day was launched by EURORDIS and its Council of National Alliances in 2008 and brings together millions of people in solidarity. EURORDIS leads the global community in organising Rare Disease Day, which takes place on the last day of February each year to raise awareness of the impact that rare diseases have on over 300 million people around the world.
South Africa first participated in Rare Disease Day in 2010. Since then, patient organisations have launched many successful initiatives.
Rare Disease Day is an opportunity to be part of a global call on policy makers, healthcare professionals, and care services to better coordinate all aspects of support for people living with rare diseases.
It is an annual awareness day dedicated to elevating public understanding of rare diseases and calling attention to support the path towards universal health care ensuring the chronically ill, including those with rare diseases, are not marginalised and receive appropriate and timely access to diagnosis and treatment.
About Rare Diseases South Africa NPC
Rare Diseases South Africa NPC fights to have rare diseases recognised and treated.
By connecting patients, families and patient groups, as well as by bringing together all stakeholders and mobilising the South African rare disease community, Rare Diseases South Africa strengthens the patient voice and shapes research, policies and patient services.
Improving quality of life takes advocacy, support for research and medicine development, facilitating networking amongst patient groups and caregivers, raising general awareness with key stakeholders and the broader community and providing a platform for key discussions when it comes to inclusive healthcare.
For more information, visit www.rarediseases.co.za
About Rare Diseases
RDSA NPC considers a disease as rare when it affects less than 1 in 2,000 citizens. Over 6,000 different rare diseases have been identified to date, affecting an estimated 3 million people in South Africa and over 350 million worldwide. Due to the low prevalence of each disease, medical expertise is rare, knowledge is scarce, care offering inadequate and research limited. Despite their great overall number, rare disease patients are the orphans of health systems, often denied diagnosis, treatment and the benefits of research.