A South African mom is doing everything she can to find anyone in the world matching her sons rare disease in order to help him understand more about himself & his future.
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.
“Juan has defied all the odds, doctors told us that he wouldn’t live past 2, that he wouldn’t be in mainstream schools and that he wouldn’t be able to do sport, these are a few of the many things they have been told that he would never do, but day by day Juan shocks us with his strength and willingness to continue to defy the odds.”
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.
The organisation has become an incredible platform for people who are living with rare diseases to connect but unfortunately the Du Plessis family has not found someone who has a similar case as Juan yet.
This has inspired Kelly to embarked on a mission to find any of the 12 other reported cases with this very rare dominant gene which causes sudden cardiac death and various muscular complications. Due to the presence of this gene alongside his Pompe disease, Juan presents with challenging symptoms and the family are not always sure where they fit in, or if we need to look for alternative causes.
“We often don’t understand his strange reactions to meds and his seizures are really difficult to treat. As his mom I am desperate to speak to someone about simple things, complicated things, practical things. I have questions that doctors can’t answer. I want to be able to answer the questions Juan asks me, and mostly I want to understand.”
And so, Kelly is taking her desperate search to social media in the hopes that somebody will know another person with PRKAG2 that they can connect with.
“Please share, share, share. It would make a great difference in our lives. None of the 12 reported case are in Africa, so we need this to go as far and wide as we can.”
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.
All you have to do to help is share this post with as many people as you can… together we need to find 1 match.