Rare Disease Day 2018 aims to work towards accurate diagnosis, early intervention and research efforts for rare diseases in South Africa.
In South Africa, where medical infrastructure, clinical research and patient support is often a challenge, Rare Disease Day 2018 aims to raise awareness and grow the support for people with rare diseases. Rare diseases are often of genetic origin, and usually life-threatening or chronically debilitating disorders.
Rare Diseases South Africa (RDSA), in conjunction with their partner Sanofi Genzyme, will launch its annual Rare Disease Day. This year’s theme is ‘research’ and the intention is to encourage the local community to ‘know your genealogy’ and ‘research your family tree’.
“Approximately 1 in 7 people will live with a rare disease at some point in their life. Despite this, there is no cure for the majority of rare diseases and many remain undiagnosed. Rare Disease Day is an opportunity to improve knowledge among the general public about rare diseases while encouraging researchers and decision-makers to prioritise the needs of patients living with these conditions.” – Kelly Du Plessis, Founder and CEO of RDSA
RDSA was founded in 2013 as a support group for patients and parents. Since their founding, the organisation has blossomed into a fully fledged non-profit that helps guide families through early diagnosis and lifestyle adjustments.
“Imagine making multiple visits over many years to numerous doctors who are unable to diagnose you; and even when you are eventually diagnosed to find that there is no treatment for your condition, or your healthcare provider simply refuses to reimburse the medicine you need to save your life. Think about the environment around you – school, work, hospital and social services – that are usually not adapted to support your needs.”
“Consider as well that there are only a handful of people living with your disorder around the world and that there is little or no research about your condition. Recognise the financial burden and stress caused by having to travel hours or days to get to the only specialist or hospital that can assist you as well as the psychological impact and isolation you would feel. This is a reality that people living with rare diseases face every day,”
The organisation works to change the experiences mentioned above so that people with rare diseases don’t feel isolated.
The objective is to ensure that Rare Disease Day is imprinted in the minds of the local population and receives the same attention and focus like World Aids Day, Red Nose Day and Bandana Day. Rare Disease Day aims to create awareness and dialogue about the need for research, care and on-going support for rare disease patients, thereby ensuring that rare diseases are not marginalised and becomes a national priority.
“The general public and media at large are unaware of the fact that collectively there are more people affected by rare diseases than there are HIV/Aids and cancer patients in the world,” adds du Plessis.
During the course of February, RDSA is initiating an interactive online campaign to raise awareness of rare diseases and show support for the rare disease community.
Followers can ‘Show you Care for Rare’: #ShowYourRare, by painting their face and taking a selfie with friends, family or colleagues and posting the image on any social media platform.
The millions of people affected by #rarediseases around the world face huge challenges every day. #ShowYourRare for those battling every day @rarediseaseday #livingbeyond #rarewarriors pic.twitter.com/Z78VmiAmGg
— Rare Diseases SA (@RarediseasesSA) January 26, 2018