Posted on 4 July 2017
A rare genetic disorder that causes accelerated ageing in children affects a very small fraction of newborns – and South Africans are among them.
When Ontlametse Phalatse died in hospital in early April 2017 in Ga-Rankuwa, outside Pretoria, she was just 18. Physically, however, she was much older – and she had lived four years longer than doctors had predicted.
Ontlametse was one of two South African children at the time living with progeria, a rare genetic disorder that causes rapid ageing. Children born with Hutchinson-Gilford progeria syndrome (HGPS) usually look normal at birth, but they struggle to put on weight, explains genetic counsellor Noelene Kinsley. ‘In early infancy they start developing a characteristic appearance that includes prominent eyes and ears, a small face and jaw, and a thin, pinched-looking nose.’
HGPS also causes partial or complete baldness, aged-looking skin, joint abnormalities, and a loss of fat under the skin. ‘Those affected by the condition may experience hip dislocation and joint stiffness, and primary and secondary teething may not occur. Later they may develop other age-related conditions such as hearing loss,’ says Noelene.
The condition doesn’t affect motor and intellectual development, and intelligence is not affected.
What causes progeria?
There are different forms of progeria, but the classic type is HGPS, named after doctors Hutchinson and Gilford, who first described it in England in the late 1800s. ‘This rare premature ageing disorder affects about one in four million newborns,’ says Noelene.
Progeria results from a mutation in the LMNA gene. ‘It’s called a de novo autosomal dominant condition because in almost all cases the mutation is new (de novo) and occurs by chance – it is seldom seen to recur in a family,’ Noelene explains.
Other progeroid syndromes include Werner’s syndrome, also known as ‘adult progeria’, which usually manifests in the late teen years, with a life span for the affected into the 40s and 50s.
What’s the prognosis for HGPS sufferers?
Average survival is about 14 years, says Noelene, and death is often a result of heart disease or stroke. This is because HGPS sufferers experience severe hardening of the arteries, beginning in childhood – a serious condition that greatly increases the chances of having a heart attack or stroke, and which can worsen over time.
Are there other South Africans with progeria?
Beandri Booysen, a 12-year-old from Pretoria with HGPS, aims to be the oldest person living with the condition. In 2012, when she was in Grade 1, she suffered a stroke but recovered. The first identified South African with the condition was Fransie Geringer, who, at the time he died of a heart attack at the age of 16 in 1989, was the only known progeria sufferer in Africa. South African artist and DJ Leon Botha, who died in June 2011, a day after his 26th birthday, was one of the world’s longest-surviving progeria sufferers.