MENU
03 Jun, 2015

Raising funds for rare diseases

489
Pedalling 4 Pompe’s paediatric chiropractor, Dr Jacqui Bunge.
2015 was the third year in which ‘Pedalling 4 Pompe’ entered the Cape Town Cycle Tour as a charity bond and despite being both amateurs at cycling and at the fundraising process, this year the group managed to raise R97 140 for the Rare Disease Society of South Africa (RDSSA).

‘Pedalling 4 Pompe’ is the main fundraising initiative of the RDSSA and encourages participants to ride for a cause and raise funds for better care and to create awareness about rare diseases and their impact on patients’ lives.

Kelly Du Plessis, founder and chairperson of the RDSSA said: “What began as a simple challenge among friends and family to raise awareness about Pompe Disease, ‘Pedalling 4 Pompe’ has evolved into a charity initiative that seeks to help children and adults with rare conditions.”

Rare diseases are disorders including those of genetic origin, and are life threatening or chronically debilitating diseases which are of such low prevalence, less than one in 2 000, that special combined efforts are needed to address them.

It is estimated that 350 million people worldwide suffer from rare diseases and there are approximately 7 000 different types of rare diseases and disorders, with more being discovered each day.

All the funds raised from the cycling event will go towards assisting rare disease patients with treatment costs, aiding potential patients with costs associated with diagnosis as well as funding the development of rare disease specialists in South Africa.

She added: “Rare disease patients form a minority of our society yet they receive little help or attention. Our acknowledgement and investment can make significant changes to their quality of life. With timely and accurate diagnosis and intervention, people with rare diseases can contribute significantly and positively towards society.”

This organisation was born out of necessity. Kelly and her husband Frans’s first child, six-year-old Juan, showed early-warning signs of developmental disorders, and at the age of 11 months, he was diagnosed with Pompe disease, a progressive neuromuscular disorder. Consequently, they have had to deal with many hardships – both financial and emotional. The first year of treatment saw them out of pocket by R120 000, feeling alone, isolated and abandoned.

Through their own need and trauma, Kelly and Frans realised more was needed for other families with similar situations, and so in 2012, they founded the RDSSA to assist patients and families affected by rare conditions.

Juan has been in and out of hospital, has undergone several operations, suffered cardiac arrest, and has even ‘died’ for several minutes before being resuscitated. Although he is not mentally impaired, the family battled to find a preschool that would register Juan with his physical conditions – another hurdle for his parents. Kyalami Preparatory was the only registered establishment willing to open their arms to Juan and embrace him into their community.

Kelly and Frans conclude that gaining such acceptance is another major hurdle for families who have loved ones with rare diseases.

To Ride for a Purpose and make a difference and help raise awareness about Pompe Disease during the Momentum 947 Cycle Challenge, visit: http://rarediseases.co.za/join-cycle-team/ or for more information, contact: info@pedalling4pompe.co.za.