Rare Diseases South Africa, a registered NPO and public benefit organisation, works to support individuals and families who are dealing with the everyday challenges brought upon by rare diseases. It is committed to raising funds for medical care while also raising awareness amongst the public and relevant bodies in order to affect policy changes that could affect the quality of life of patients.
The organisation was founded by Kelly du Plessis, CEO of Rare Diseases South Africa, whose son, Juan, was diagnosed with Pompe as a baby. Pompe is a rare disease that had only been diagnosed once before in SA.
“There is very little support for those who are affected by rare diseases,” explains du Plessis. “So we try to remedy that by providing a network so that families do not have to take this journey alone.
“Due to the particularity of these disorders, they are exceptionally difficult to diagnose, treat or cure. For most rare diseases, there is so little understanding or knowledge that treatment becomes an exercise in educated guesswork, which is why we are constantly working with medical practitioners and patients to try to build the scope of understanding.”
However, it is the heroic bravery of those living with these diseases that make all efforts worthwhile, as in the case of du Plessis’ son Now six years old, Juan was first diagnosed with Pompe at a few months old, , and then, later, with a similar disorder known as PRKAG2.
“At first, the doctors wanted to stop all treatment as they had decided that Juan’s chances of survival were hopeless,” du Plessis continues. “And we had to fight with them and persuade them that there was still hope.”
Du Plessis and her husband, Frans, as well as a troupe of family members and friends, joined forces to create Team Juan, which cycles long distances in order to help raise awareness and cover the costs of Juan’s medical treatment.
Similarly, #Swim4Sadie was started to raise money towards research of Ectodermal Dysplasia and Cardiomyopathy, which was the lethal combination that brought the feisty 3 year and 9 month old Sadie Penn’s fight to a heartbreaking end. As one of only four reported cases of this disease combination, the knowledge within the medical fraternity simply was not there to effectively diagnose and treat her. Her parents have remained actively involved with Rare Diseases SA and Swim4Sadie has continued in her legacy for the benefit of all rare disease patients in South Africa.
Du Plessis concludes, “By sharing our stories and raising awareness, we are helping doctors and the general public understand the variety of rare diseases a little more every year, so that one day our efforts will save the lives of others.”