Juan du Plessis, a young boy from South Africa, is the epitome of human spirit and courage. He was diagnosed with Pompe Disease at 11 months, epilepsy at 15 months and PRKAG2 at 4 - the only child in the world to have this combination of rare conditions. Having been told he'd never walk, and probably wouldn't see his second birthday, his family embarked on a massive supportive care campaign comprising of weekly Enyzme replacement therapy infusions and various therapies 4 times a week.
At present, Juan continues to defy the odds and at age 6 just participated in his first rugby match, and now attends main stream school. His mother, Kelly du Plessis, started an NPO - Rare Diseases SA - in 2013 after recognising the lack of support for rare disease patients and their families and this has grown significantly from a support group into a patient advocacy organisation which makes significant, beneficial differences in many lives. Whilst many other patients & families have continued to fundraise independently for their benefit, Kelly has ploughed her time, effort and skills into the NPO for the greater good of many rare diseases patients.As Juan grows and his physical requirements and challenges change and develop, so he too requires additional therapies and facilitation, which all come at significant financial cost to the family.Currently, Juan faces the risk of losing his place in mainstream school as the gap between him and his peers continues to widen.
This campaign is an effort to assist this family financially by creating a fund to assist with the various educational needs that Juan currently has. This includes a full time facilitator at school, as well as the various additional supportive care elements required to keep Juan fit and functional. Due to his love of sport, and social nature, combined with the lack of suitable alternative schooling options in South Africa, his current school is the best place for him. The school has embraced Juan with all his challenges, anc continues to provide inclusive and flexible alternatives to allow him to reach his maximum potential.
Due to the excessive cost of his medical needs, as well as his schooling tuition, the option of an additional facilitator is just simply out of reach for the family. Without this facilitating support, Juan will not be able to remain in mainstream school.
This campaign will not only take a massive weight off the family's shoulders and ensure Juan has the best possible chance to succeed at life, but it also enables Kelly to continue the amazing advocacy work she does for Rare Diseases SA and the thousands of patients who depend on the organisation.