Our son Julian lives with an extremely rare chromosome disorder called 9p Deletion Syndrome. But before I tell you about the diagnosis, the doctors, the seizures, the therapies and everything that comes with raising a child with a rare condition, I want you to know who Julian is. He is our son. He is a little boy who has had to fight harder for things most of us never have to think about. He has taught our family that progress cannot always be measured against a textbook or a

Written by Kelly du Plessis, CEO, Rare Diseases South Africa For every person living with a rare disease, diagnosis is rarely a single moment. It is a journey, often years long, through misdiagnoses, dead ends, and a healthcare system that was not designed with rare conditions in mind. We call it the diagnostic odyssey, and it is one of the areas where I have spent much of my advocacy career trying to make a difference. That is why I was honoured to serve on the expert panel

By Kelly du Plessis, CEO, Rare Diseases South Africa If you live with a rare disease, or care for someone who does, you have probably had this experience: a claim comes back unpaid, a benefit is paid from the wrong pool, or a life-saving treatment suddenly needs authorisation you didn't know was required. Nine times out of ten, the explanation traces back to three or four characters on a form that most patients never learn to read: the ICD code. It sounds like small print. It

By Kelly du Plessis, Founder & CEO, Rare Diseases South Africa For thirteen years, I have watched South African families walk the same lonely road: a child who isn't developing quite right, a specialist out of ideas, a referral letter that goes nowhere, years, sometimes a decade, before anyone can put a name to what's wrong. We at Rare Diseases South Africa (RDSA) have always known this journey is common. What we haven't had, until now, is a number. We have one now. And it's

This is Nicole's travelling experience, attending the 5th International Scientific Congress on Spinal Muscular Atrophy (SMA) in Budapest

Imagine every few days remembering something so deep that it scares you like it's the first time you found out... Dear boy, When I was twelve weeks pregnant with you, the doctors could not find your nasal bone during a scan. They recommended a NIPT test to check for Down syndrome and other genetic conditions. On that same day, we also received the envelope that held the secret of your gender. My blood was drawn, and the sample was flown to the United Kingdom. Then we waited.

This Mother’s Day, Rare Diseases South Africa honours the caregivers whose persistence, instinct, and advocacy change outcomes — not only for their own children, but for the rare disease community as a whole. Hunter and Olivia’s story is one of those stories. When Rare Disease Becomes Personal Many families affected by rare diseases begin their journey believing, “This won’t happen to us. "Hunter and Olivia’s parents were no different. They were a healthy family. Rare disease

In South Africa, being rare often means being unseen. Baby Sacha For five months, Sacha Ariel was simply a baby being loved. Born a healthy 2.7kg, he thrived in those early weeks, surrounded by warmth, laughter, and the deep bond forming between him and his big brother. Like so many families, Sacha’s parents were living the joy of newborn life — unaware that a rare diagnosis would soon change everything. When Sacha became ill and was admitted to hospital for dehydration and p

Kyle Small’s Story and Why Haemophilia Awareness Matters Haemophilia is often misunderstood. Many people believe it means bleeding excessively from small cuts, when in reality, the most serious danger lies beneath the surface. Haemophilia is a hereditary blood disorder passed from mother to child, where the blood does not clot properly. People with haemophilia do not bleed faster than others, but they bleed for much longer, and internal bleeding, especially into joints, muscl

Bruce Campbell: The Rare Warrior Who Refuses to Stop At Rare Diseases South Africa , we celebrate resilience, courage, and community, values personified by Bruce Campbell , a true Rare Warrior whose journey inspires both the rare disease community and the sporting world. A Life of Resilience Bruce’s battle with rare disease began at six years old when he was diagnosed with Guillain-Barré Syndrome , leaving him paralysed and on a ventilator. Against the odds, he learned to wal