A simple heel-prick to avoid a lifetime of brain damage
Parents warn about the importance of newborn screening for genetic and rare diseases that are not visible at birth
Television personality Roxy Burger had what she describes as the “perfect” natural birth, delivering her baby in fewer than 15 minutes, after 28 hours of contractions. She describes being on “cloud nine” on her first day as a mom.
“It was perfect, awesome ... I was loving life.”
But then she learnt that her hours-old daughter was missing her thyroid gland, following a blood test – a test she did not know was being done.
Untreated, congenital hypothyroidism would have left her child mentally disabled.
Her daughter, Adrienne Burger, was lucky enough to be born at Park Lane Hospital in Johannesburg in 2018, where babies’ umbilical cord blood is tested for this condition, which affects one in 4,000 babies. When the test results were returned the paediatrician walked into her hospital room with “eyes like saucers”.
“The results are so high, I actually think it is a false positive,” the doctor told her.
Burger now gives her daughter artificial thyroxin to mimic the hormone produced by the thyroid gland. She calls the drug the “princess pill”, and it costs just R37 a month.
The screening “saved” us, says Burger. Adrienne is healthy and developing normally. Burger said she tried to be the “perfect” pregnant mom, taking folic acid, eating healthily, exercising, reading books and taking classes on motherhood – but she had never heard of newborn screening. She now promotes newborn screening, which is not widely known about in SA.
Newborn screening looks for a specific set of genetic and rare diseases that are not visible at birth, but without urgent intervention can cause lifelong damage or death.
Such screening is a legal requirement in the US, and is conducted in 34 out of 35 European countries and most of South America but not widely in Africa, according to North-West University professor and pathologist Chris Vorster.
About 37% of all newborns worldwide are screened for rare genetic or metabolic conditions, Vorster said, citing published research in the journal Seminars of Perinatology. Vorster is in charge of the university lab that conducts the screening and is fighting to make newborn screening widespread, to prevent unnecessary cases of mental disability.
Vorster said the test only looked for 22 genetic and rare diseases that progress rapidly to cause severe illness, death and disability. The test does not screen for diseases that can be diagnosed later without too much harm done.
The 22 conditions all have treatments available or require dietary changes. Tests are done 24 to 72 hours after birth, using a drop of blood from a baby’s heel. Some facilities screen cord blood for congenital hypothyroidism. “Newborn screening is a globally recognised, preventative mechanism,” said Vorster.
But Vorster said there was no newborn screening policy and no national screening programme in SA.
His laboratory, at North-West University’s Centre for Human Metabolomics, conducts about 5,000 screening tests annually. Last week, it diagnosed another case of congenial hypothyroidism. The test in SA, including transport and results, costs just under R1,300.
A matter of money
Not everyone agrees that newborn screening is a good idea since only one in 2,000 babies is likely to be found to have one of the diseases.
Vorster argues that the costs of an intellectually disabled child who will need lifelong care are greater for society than the cost of testing every newborn and preventing rare disabilities.
But widespread screening of every child is expensive for medical aids, who by his colleagues’ calculation would spend more paying for a test for every baby than paying for those who become ill, disabled or die.
Another problem with the test is that it could have up to 5% of false positives, requiring a follow-up test to verify the results. A paediatrician caring for 300 babies a year may get up to 15 false positives a year and one true case every six years, Vorster wrote.
One genetic disease screened for by Vorster’s lab is isovaleric acidemia, where the body cannot digest certain proteins. It can cause mild disability and frequent vomiting, and in some cases death within days. If detected early, the baby’s diet can be changed to prevent death or delayed development.
In a video Vorster made with parents of disabled children with this disease, Christo Hurter talks about his child who was not diagnosed with isovaleric acidemia until he was brain-damaged.
“The experience of [raising] a kid that is not normal is immense,” he tells Vorster.
Hurter says he has had to work extremely hard to make enough money for his now adult son, who will need assistance after his father dies. “I am not to provide for my next 40 and 50 years, but for his 80 years.”
Dietary adjustments were a small price to pay to avoid disability: “If they said for the rest of your life you must eat rice and your kid would be normal, that’s nothing.”
His daughter, Janke, was diagnosed with isovaleric acidemia only days after birth and was put on a special diet.
She “progressed well at school” and “is normal”.
“The big difference [ between my children] is the quality of life. Janko can get married. She can go on with her life.”
Hurter urges new parents: Screen as soon as you can. What you can save yourself from is unbelievable.”