Family struggles to cover R3.6m medical bill for rare disease
Patients are being left in limbo by a 'grey area' in the law
For two years, Knysna resident Irene Sabbat has known which medication could reduce her excruciating bone pain - but has been unable to get her medical aid to pay the R3.6m-a-year charge for it.
In 2016, after 27 years of unexplained pain, Sabbat, now 33, was diagnosed with progressive Gaucher disease, a rare enzyme deficiency that results in low platelet counts, fatigue and severe bone pain. She was prescribed Cerezyme.
But the Government Employee Medical Scheme (Gems) has refused to pay for it. Gems says it is not legally required to pay for the drug, based on its interpretation of a key piece of legislation.
And Sabbat is not the only one fighting such a battle.
Joburg resident Tasnim Jadwat Casoojee has been trying to get Spinraza - the only drug available for spinal muscular atrophy - for her 10-year-old child, Iman. The drug was released in 2016.
The Casoojees this year received a licence from the South African Products Regulatory Authority to import Spinraza from the US. This week, Discovery Health Medical Scheme denied her access to the drug, which offers an improvement but is not a cure.
The first year of treatment entails six injections at $125,000 (R1.8m) a shot, totalling about R11m for the year. After that, the price is R4m a year for treatment.
Discovery says it will not pay for Spinraza because it is not a legally required prescribed minimum benefit (PMB), there is limited evidence of its effectiveness and because of its "ultra-high cost".
"Watching your child deteriorate when you can't do anything is very hard," said Casoojee.
Discovery has also refused four requests for the drug from a Chatsworth family for their three-year-old daughter.
In Sabbat's case, she started fighting Gems to pay for Cerezyme in 2016. She applied twice but was rejected. Last year the medical aid regulator, the Council for Medical Schemes, told Gems to pay.
Gems appealed and lost. It is in the process of a second appeal with the regulator.
Patricia Matseke, a legal consultant at Elsabé Klinck & Associates, which specialises in health law and policy, said: "The reality, especially with a rare disease, is that we hit a lot of brick walls."
Sabbat said she just wanted to live "a fulfilling life with [my] two boys, husband, and friends". Her ongoing pain, coupled with the more than two-year fight with Gems, was "not just breaking [my] body down in a physical capacity, but a mental capacity as well".
Funding high-cost drugs is a complicated matter. Medical aids have a limited pool of funds. Doctors often disagree on new drugs' effectiveness. And South African laws make solving the problem harder, as the health department bans pharmaceutical companies from giving drug-price discounts or rebates.
Gavin Bauer, on behalf of the Innovative Pharmaceutical Association SA, said pharmaceutical companies needed to lobby the health minister to allow different pricing schemes for rare-disease medicines.
Another problem, experts say, is that the law on prescribed minimum benefits (PMBs) - making it compulsory for medical aids to cover certain disease treatments in full, no matter the cost - is outdated and has not kept up with new drugs and advances.
Some disease treatments in the PMB category have to be paid for in line with what state hospitals provide. Experts call the PMB law an "intense grey area" - and its interpretation is at the heart of the dispute between Sabbat and Gems.
Gems principal officer Guni Goolab said: "The regulations under the Medical Schemes Act determine that schemes must fund PMB conditions in accordance with the predominant public hospital practice . the public health system no longer prescribes this medicine [Cerezyme]."
He added: "Medical aids, including Gems, need to balance the interests of individual members with those of the wider membership, which in Gems' case comprises over 1.8-million beneficiaries."
Discovery's principal officer Nozipho Sangweni said: "There is definitely a requirement for clarity relating to what constitutes PMB level of care for rare and high-cost conditions.
"For many of these conditions, there is patchy or no care in public-sector hospitals, and it is therefore difficult to ascertain the level of care by reference to state hospitals."