Still looking for answers.
Years of tests, appointments and "we're not sure" is exhausting, and more common than you'd think. Being undiagnosed doesn't mean there's nothing wrong, and it doesn't mean you're on your own with it.
The average rare disease patient waits years for a diagnosis and sees multiple specialists along the way. If that's been your experience, it isn't because you did something wrong or didn't push hard enough.
What can we help with
Understanding where you are in the process
What's already been ruled out, what hasn't, and what the logical next test or referral might be. Sometimes the answer is that nothing has been missed and it's a matter of time. Sometimes there's a gap worth raising.
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Finding the right specialist
Rare conditions often need a particular kind of expertise, and knowing who to ask for is half the battle. We can point you towards clinicians and centres who see this kind of case.
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Genetic testing and counselling
Understanding what testing is available, what it can and can't tell you, and how to access it in both the public and private sector.
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The part nobody talks about
Being undiagnosed is its own kind of hard. No name for it, no community built around it, and often the quiet worry that people think you're imagining it. Counselling and peer support are available to you whether or not you ever get a diagnosis.
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The unfortunate reality
We can't diagnose you, and we can't promise that you'll get an answer. Some conditions take years to identify and some are never named at all. What we can do is make sure you're not navigating the process alone, and that nothing obvious is being missed.
Start with a conversation
Tell a navigator where you are and what's happened so far. There's no cost and you don't need a referral.
Whatsapp helpline
Undiagnosed patients are the most uncounted of all
When we argue for better rare disease care in South Africa, the first question we get asked is how many people this affects. Undiagnosed patients rarely appear in any official figure, which makes it easy for decision-makers to treat you as a rounding error.
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Joining the Rare Disease Patient Registry puts you in the count. You don't need a diagnosis to register, that's exactly the point.
Its free, POPIA-compliant, and you control what's shared. It also means we can reach you if something relevant comes up, including research or testing that might finally give you an answer.