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Untangling the Maze: Our Contribution to the latest Aspire4Rare Diagnosis Report
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
2 days ago3 min read
Knowing Your CODE: Why ICD Codes Matter More Than You Think
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
5 days ago4 min read
Three Million Reasons South Africa Needs a Rare Disease Policy
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
Aug 255 min read
Around the Globe in 19 Days
This is Nicole's travelling experience, attending the 5th International Scientific Congress on Spinal Muscular Atrophy (SMA) in Budapest
Aug 254 min read
THE ONLY BOY IN AFRICA
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.
Jul 134 min read
A Mother’s Instinct, a Rare Diagnosis, and the Fight for Fair Access.
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
May 143 min read
Sacha’s Story: When Being Rare Means Being Unseen
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
May 53 min read
A Blessing in a Little Syringe
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
Apr 173 min read
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