State delays crucial drug for progeria girl
● Progeria sufferer Beandri Booysen had to go for weeks without the imported medication she has taken for a decade — her only hope to prolong her life — after the health department blocked her consignment at the border.
The Pretoria teen, who wants more than anything to celebrate her 14th birthday in November, has been a participant in a clinical trial by the Boston Children’s Hospital in the US since 2009.
But last month the South African Health Products Regulatory Authority obstructed an application to clear her critical consignment of Federal Drug Administration-approved Lonafarnib because it did not have a package insert.
“We believe in this medication, it is the only hope we have. Every day without it means they are taking time away from my child and now we are getting desperate,” said Beandri’s father, Pieter Booysen.
Hutchinson Gilford progeria syndrome is a rare genetic disorder that speeds up the ageing process. The average life expectancy of those living with it is 14. The disorder has made Beandri frail. She weighs 13kg.
After receiving questions from the Sunday Times this week, the authority contacted Beandri’s paediatrician, Dr Abraham Burger, and requested information he’d included in his application of August 9. It then moved the application up in the “approval process”.
Booysen said that authority officials had been inaccessible while the family tried to get the experimental medicine released. Beandri’s last supply of the prescription ran out two weeks ago.
“This year is the first time we have had problems. For 10 years we have been carrying the medicine through the airport and having it posted to us and it always arrives at our door with no hassle.
“I called them and begged them to release it. We have done everything they asked.”
Last month the family were told by their courier that the medicine had been held at the border, pending “authorisation”.
“You try and call [the authority], and noone answers the phone. No-one responds to e-mails. At that point her medicine was running out,” Beandri’s mother Bea said.
The Booysens asked the paediatrician to apply for the drugs’ release.
Burger said the net effects of the experimental drug were not yet known.
“I filled in the forms, but they won’t release the drugs because they wanted a package insert.
“They want proof that it is registered for general use in the medical world, but that’s irrelevant because it is a trial and the Booysen family have consented to their daughter taking the experimental drug.”
He said the family were desperate to get the best help for Beandri.
“They will cling to any small hope, and I agree, people should grab it.”
Dr Engela Honey, a University of Pretoriabased paediatrician with an interest in genetic defects, described the administrative delay as “nonsensical”.
“She has been enrolled in this research project for many years. All of a sudden we can’t get the medicine into the country and it makes no sense as to why.”
Kelly du Plessis, CEO of Rare Diseases SA, said the authority’s application process was fraught with delays.
“You can never reach anyone at [the authority] and there is no valid reason why this child had to go without this drug,” Du Plessis said.
The authority’s acting CEO, Portia Nkambule, said the processes were vital to ensuring the safety of the public. By Thursday the drugs were approved. Nkambule denied that officials were inaccessible and said the authority processed more than 13,000 applications a year.
“We are committed to helping Beandri,” she said.