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