Join our ride for these angels in need
A disease is considered rare when it occurs in less than one in 2000 people
ON October 17, bikers will come in their numbers to ride their mountainbikes and raise funds for Rare Diseases South Africa (RDSA), but who is behind the organisation and what does the organisation stand for?
RDSA was founded in 2013 by Kelly du Plessis, the mother of a Pompe patient, Juan (currently aged six).
Pompe disease is a rare multi-system genetic disorder that is characterised by the absence or deficiency of the lysosomal enzyme alpha-glucosidase. This enzyme is required to break down the complex carbohydrate glycogen and convert it into the simple sugar glucose.
Also read:
• Bring your bike and ride for a good cause on October 17
• Join us for the angels in need mountain bike challenge
“When Juan was diagnosed, I just couldn’t understand how little support there was available. Seeing all that was being done overseas just made me realise that more needed to be done locally to ensure that patients in Africa were not forgotten,” said du Plessis.
Du Plessis explained that what initially began as a fund-raising challenge in 2012, fondly known as Pedalling 4 Pompe, made a few things evident: there was a lack of support for patients with rare diseases (RD) and lack of knowledge thereof, public awareness of RDs led to overwhelming support from members of the public and access to information on various RDs was limited.
“This is what led to the formal creation of RDSA. Some RDs already have support groups and awareness campaigns in place, we believed a creation of a central, cohesive organisation was necessary,” said du Plessis.
RDSSA is registered non-profit organisation in South Africa, which aims to assist all patients and families affected by rare diseases by ensuring access to appropriate treatment and supportive care for improved quality of life.
RDSSA’s objectives include supporting and providing practical aid to individuals and families affected by rare diseases, creating awareness on RDs through providing of information to individuals, families, medical professionals, schools, organisations and the general public, establishing a network between individuals and families affected by rare diseases with relevant organisations, professionals, education and intervention centres, collaborating with organisations that have the potential to affirm, prevent, improve treatment and increase the quality of life of individuals affected with rare diseases and promoting medical research on rare diseases.
The organisation arranges a number of fund-raising events, but also appeals to the public and corporate companies to become donors to the organisation on an ongoing basis.
What is a rare disease?
Individually rare but collectively common, rare diseases include those of genetic origin. They are life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them.
As a guide, low prevalence is taken as a prevalence of less than one per 2000 in the community.
According to research conducted by the organisation:
– 75 per cent of RDs affect children
– 30 per cent of children with RDs will not survive to see their fifth birthday
– 80 per cent of all RDs are genetic in origin
– RDs are often chronic, progressive, disabling and life-threatening
– Because of their rarity, and symptoms are often common, misdiagnosis is a major concern with the average time from presentation to diagnosis being 7.1 years
– Although rare, collectively, RDs are common, affecting an estimated 350 million people globally.
– There are over 7000 conditions which are considered to be rare
“Patients affected by rare diseases form a minority in our society and receive minimal assistance and attention. Our acknowledgement and investment in these patients can make significant changes to their quality of life,” added du Plessis.
“With timely and accurate diagnosis and intervention, people with rare diseases can contribute significantly and positively towards society.”
Join Caxton Angels on Saturday, October 17 at the Bike Park Central Park Trails, Modderfontein and ride your bike to raise funds for RDSA.
Race details:
– 10km – R 120 per rider and the race starts at 7.45am
– 20km – R 160 per rider and the race starts at 7.30am
– 40km – R 180 per rider and the race starts at 7am
Be part of the change!
