1 in 7 South Africans suffer from debilitating and strenuous rare diseases, which can include single gene mutation diseases like Cystic Fibrosis and illnesses which affect the brain and nervous system, such as Huntington’s disease.
To put that into perspective, around 8 million South Africans toil with the burden of these diseases daily. That’s more than the entire population of both the Western Cape and Eastern Cape which sit at around 6 million respectively.
Yet, perhaps the most harrowing fact is that close to 95% of these rare, but collectively-common, diseases do not have any FDA approved medication or treatment method making the caring of these patients difficult, to say the least.
That’s why the organisation Rare Diseases South Africa (RDSA) has embarked on an awareness initiative, alongside biopharmaceutical company Sanofi Genzyme, to promote the 28th of February as Rare Disease Day.
With a general theme of ‘research’, pushing for the pre-emptive diagnosis of these maladies, the aim of the initiative is to educate, raise funds and create a community of willing volunteers who can aid in the very necessary task of aiding those who suffer from rare diseases.
“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”, says CEO and founder of RDSA, Kelly du Plessis. “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.”
Du Plessis’ words may seem blunt, but they offer a view of how unapologetic and decisive these diseases can be.
Rare Disease Day will allow supporters to get involved and ensure that clinics and therapies are developed; that support-groups are properly structured and funded and that people suffering from these diseases aren’t left on the fringes of society.
You can pledge your support by heading to the following link www.rarediseases.co.za and offering donations, applying to become a volunteer or activist and by sharing your will to help across social media platforms with the hashtag #RareDiseaseDay.