THERE was a collective sigh of relief from five-year-old Alrene Scheepers’ parents, doctors and raredisease experts as she received her first dose of lifesaving enzymes yesterday.
“This is a wonderful day,” dad Alfonso Scheepers said.
Mom Renee became quite emotional as the first enzymes started dripping into her daughter’s veins at the Paediatric Oncology Unit at Port Elizabeth’s Provincial Hospital.
It took them 18 months of bitter fights with the Eastern Cape Department of Health to get Alrene her medicine.
Alrene also made history as she became the first patient in an Eastern Cape public hospital to receive enzyme replacement therapy.
“I feel we should pop a bottle of champagne,” Alfonso said.
“I got a few extra grey hairs waiting for this medicine.”
Her mom said with a laugh: “I got so many I had to start dyeing my hair!”
The gutsy little girl had been given barely two weeks to live without the enzymes after doctors found that her spleen was so enlarged that it weighed close to 2kg. Alrene herself only weighs 15kg.
A team of rare-disease specialists joined her parents and treating doctors Johani Vermeulen and Elmarie Mathews-Walton to oversee the administration of the first dosage of enzymes.
The team also had a meeting earlier in the day with Dora Nginza Hospital chief executive officer Dr Ntombi Qangule to facilitate a speedier authorisation process for future patients.
It took Qangule 18 months to sign a request for Alrene’s medicine – despite several motivations from her doctors.
Last week, Health MEC Dr Pumza Dyantyi said she had made sure there was enough money to carry the cost of Alrene’s treatment for six months.
Alrene has been diagnosed with Gaucher’s disease. Her body is missing certain enzymes and cannot break down cellular material for re-use. There is no cure but doctors can treat her effectively with an enzyme replacement therapy costing about R48 000 a dose. She must receive this every two weeks.
The pharmacist at Provincial Hospital delivered the precious two vials at Vermeulen’s office yesterday in a nondescript little box.
Kelly du Plessis, of the Gaucher’s Disease Society of SA, came to the hospital to show nurses how to dissolve the enzyme powder, set up a drip, and discuss signs of a possible allergic reaction.
Alrene just sat on the hospital bed smiling.
“She was up early this morning already,” Alfonso said. “She told us: ‘Today I will get my medicine and then I will get better’.”
Don Pillay, of Rare Diseases SA, has organised for Alrene to go on a medical aid, but there is a year-long waiting period.
He also came to see her getting her medicine. In South Africa, most medical aids are required to cover illnesses like Gaucher’s disease as a prescribed minimum benefit.
– Estelle Ellis