When a rare disease enters your life, time warps. You are suddenly juggling doctors, labs, second opinions, and late-night research. You are trying to build a plan fast. Then the soundtrack screeches to a halt. Paperwork. Policies. Portals. Approvals. That is where too many families stall.
Getting a diagnosis can take months, sometimes years. By the time you finally have a collective name for your symptoms, you find out that the solutions are not readily accessible; the treatment path may involve medicines that are off-label, still experimental or not yet registered locally. This means paperwork.
Then comes a second mountain. Motivations. Forms. Supporting reports. Clinical notes. If you do not submit every piece of information, your claim can be declined. Your application stands still, but your symptoms progress.
If your claim is denied, you have to follow a mandated process, one that is unfamiliar and complex for a member. That adds more time and more admin. Following an internal process, you move to submitting a complaint at the regulator, Council for Medical Schemes. More paperwork. More time. Less support.
Sometimes, you have no choice but to seek relief in the courts, as in the case of Zachary de Wet, who was diagnosed with Hunter syndrome at the age of two. He is now six. His case has still not been finalised.
Loss of income
Why do these delays matter? Aside from the pain, anxiety and progressing symptoms that the patients experience, there is a combined loss of income, out-of-pocket expenditure, lack of support and intervention that the patient and their caregivers have to manage.
Most rare disease treatments are not curative. The difference they make comes from starting treatment early. Every week lost is a week the disease progresses. Early access improves quality of life and clinical outcomes. Better outcomes mean fewer complications and less cost to the health system in the long run. It is in everyone’s interest to move faster.
As a mother and as an advocate, I have first-hand experience of the current system and its barriers. When my child was diagnosed, I ran this gauntlet myself. Today I stand with families who face the same maze. I see how archaic the process is. I see how patient voices are pushed to the edges. I see how exhaustion becomes part of the care plan. While the system takes its time, people lose their best shot at success.
Current approach deepens inequality
The current approach also deepens inequity. Families who can pay out of pocket, or who have the networks to fundraise, are more likely to cross the finish line. Others hit walls. Maybe the condition is not recognised as a Prescribed Minimum Benefit. Maybe the medicine is not available in South Africa. Maybe the scheme says it simply cannot afford the cost. Those answers should not depend on your bank balance, your postcode or your social media reach.
There is a practical step that could help. Medical schemes need better tools to manage rare disease risk. One option on the table is the Equi Axis cell captive solution, which the Board of Healthcare Funders is exploring. In simple terms, multiple medical schemes pool resources to fund a defined list of rare conditions. Some of these treatments are eye-wateringly expensive. Sharing the risk is common sense. Done well, it keeps schemes viable, protects members from sharp premium hikes, and reduces the chance that a claim gets rejected on cost alone.
It also brings clarity. Most people buy medical cover for peace of mind in a crisis. Rare diseases test that promise because the rules are murky. A cell captive model like Equi Axis can set out which conditions are in scope, giving families a clear line of sight to potential coverage. That certainty matters when you are making decisions under pressure.
Authorisation pathways
It is not a silver bullet. We still need faster and more transparent authorisation pathways. We need consistent criteria and plain-language guidance, so families know exactly what to submit. We need Section 21 processes that are responsive for time-sensitive cases. We need data to guide value-based decisions, and we need patient input at every step, so that policies reflect real-world impact. Most of all, we need a mindset shift. The person at the centre of the file is not a cost line. They are someone’s child, partner or parent.
At Rare Diseases South Africa, we walk this road daily with patients and caregivers. We help them navigate the paperwork. We hold the line in appeals. We go to court when we have to. We do it because the system should never be the reason a child misses their window for treatment.
Red tape is not neutral. In rare diseases, delay is damage. Let us fix the process so families can focus on care, not on chasing signatures. Let us build funding models that spread risk fairly. Let us measure success by the time it takes to say yes to a medically indicated treatment, and by the lives that are changed because we moved faster with compassion.
That is the South Africa I believe in. One where the rules work for people, not against them. One where a rare diagnosis is met with urgency, clarity and dignity. DM