They call it the kiss of death.
In 2007, new mother Mirinda Pretorius took her six-month-old baby, Connor, to see a paediatrician in Gqeberha.
He was chesty, had oily stools, and when she kissed him, he tasted salty.
When she told the doctor about the salty kiss, he gave the nurse a knowing look and immediately requested a sweat test.
They were testing Connor for cystic fibrosis (CF).
Salty skin is just one of the common symptoms of this rare disease.
It’s often referred to as the “kiss of death” and comes from the European adage, “woe to the child who tastes salty from a kiss on the brow, for he is cursed and soon will die”.
Life expectancy for CF sufferers is now about 30 years.
Connor tested positive for the disease and Pretorius felt her whole world had ended.
She asked the doctor if he knew of other mothers who were going through the same ordeal and he put her in touch with another Gqeberha mom, Helen Karantges.
“I was so distraught, I could not phone her immediately,” Pretorius said.
“My husband called her for me and we went to see her the following day.”
Karantges’s daughter, Ioanna Haritos, 22, was six when they first met Pretorius so Karantges had already been on this journey with her daughter for several years.
Ioanna and Connor are not allowed to be within 2m of each other because being close to others with the disease puts them at greater risk of contracting and spreading dangerous germs and bacteria.
Karantges said: “We were living in Botswana when Ioanna started to get really sick. She was about 20 months old at the time.
“We went to Johannesburg and she spent six weeks in the intensive care unit. It was touch and go.
“Ioanna was eventually diagnosed with CF.”
Pretorius said: “Since Connor’s diagnosis, Helen has been my rock.”
Both women decided not to have more children because the risk of the next baby having CF was too high.
They forged a strong bond over the next 16 years and their friendship strengthened as they fought for medication to be made available in SA.
Some time ago, the friends heard about a life-saving medication for CF sufferers called Trikafta.
It has been dubbed a miracle drug by medical professionals worldwide.
They soon discovered it was not available in SA and other poorer countries.
And it was hugely expensive even if you could get your hands on it.
But Pretorius was so desperate she made a plan to fly to Argentina and give her son a fighting chance.
She now flies to Argentina every six months for Connor’s medication.
He has been on the generic version called Trixacar.
“The first trip was a flop,” Pretorius said.
“I flew to Argentina and as I landed, I was sent straight back to SA because of the Covid-19 pandemic and lockdown.
“It was very frustrating. Needless to say, I didn’t get the medication.
“I went back to Argentina in November 2021 on my own and got a six-month supply of the medication.
“My medical aid pays for about half.
“After day one of taking the medication, Connor didn’t cough. And he put on 4kg in a month.
“He has been on this medication for a year and I cannot believe the world of difference it has made in his life.”
Karantges has watched Connor’s progress and wants to get the drug for Ioanna, but unfortunately she doesn’t have the funds.
“Ioanna has a rare mutation of CF so the medical aid will not fund it,” Karantges said.
She has therefore started fundraising via GivenGain to obtain the medication for Ioanna.
One month’s supply costs $3,823 (about R70,000).
“The community has been fantastic and so far we have raised R184,000. Her treatment will cost R400,000.”
According to Rare Daily, a one-stop-shop for all up-to-the-minute rare disease news, campaigns have been mounted in SA, Ukraine, Brazil and India by a group of CF patient advocates to override patents held by Vertex Pharmaceuticals on life-saving but costly treatments.
“Recently, advocates filed papers in the Johannesburg high court seeking a compulsory licence to allow for the production of a generic versions of Trikafta, Vertex’s triple combination therapy for CF,” the article says.
Dr Marco Zampoli, an associate professor of paediatrics at the University of Cape Town and Red Cross War Memorial Children’s Hospital, said though he was not in a position to comment on the details of the court case, he fully supported the legal steps that had been taken.
“Trikafta is the original drug marketed by Vertex Pharmaceuticals which is not registered in SA and currently costs about R5m per person per year,” he said.
“Trikafta, though, is a miracle drug.
“It works by helping the body produce a better quality CFTR (CF transmembrane conductance regulator) protein which reverses the effects in the body, and if started early in life, it prevents the irreversible damage to the organs, especially the lungs.
“It’s a step towards a real cure for CF.
“Instead of dying young, people with CF can look forward to a much healthier, normal life, especially if (they start treatment as children).
“The drugs will likely soon be licensed in the US for eligible patients from two years of age.
“In SA, that’s about 90% of people diagnosed with CF.
“I don’t have first-hand experience with Trikafta but I do have a little experience with Trixacar and it appears to work just as well.
“These generic versions are more affordable and thus will save patients’ lives, improve their health, and reduce the financial burden of missing out on school or work, and expensive treatments that only treat symptoms of CF.
“Many young women and men with CF have accepted that they will never have families of their own as they will be too sick, die too young, or be infertile due to CF.
“The new CF drugs have given them hope and, internationally, the rate of pregnancies in women with CF who start the new drugs has doubled,” Zampoli said.
Debilitating genetic disease explained
Head of Cystic Fibrosis SA, Dr Marco Zampoli, is a paediatric lung specialist and his area of expertise and research interest is cystic fibrosis (CF).
Q: What is CF?
A: “CF is a genetic disease in which affected children inherit two copies (one from each parent) of the faulty gene that causes CF.
“The two faulty genes together are then unable to produce a protein in the body called CFTR (CF transmembrane conductance protein) which is important for regulating water and salt balance in mucous membranes.
“People born with CF have thick, tenacious mucous build-up in their body and organs, especially the lungs.
“The lungs then get repeated bacterial infections and over time this causes irreversible scarring.
“However, it affects all the organs, including the pancreas, which is important for digesting food.
“Children born with CF are unable to digest their food so they become very thin if not diagnosed early.
“Poor weight gain, malnutrition, bloated stomach, tummy cramps, recurrent chest infections and a bad cough are common symptoms.”
Q: At what age is CF usually diagnosed?
A: “It varies, depending on how sick the baby, child or adult is.
“The more severe the CF, the younger they will be when they present symptoms.
“But it also depends on whether the doctors think about it or if the diagnostic tests are available.
“CF in SA is diagnosed any time from birth to adulthood.
“In wealthier countries and other parts of the world, CF is now mostly diagnosed soon after birth [within weeks] through newborn screening programmes that check all newborn babies for a range of serious genetic disease like CF.
“A few drops of blood are collected from the heel a day to two after birth and tested for CF and other genetic conditions.
“SA does not have a newborn screening programme in place — it is only available if requested for a fee that parents must pay.
“Diagnosing CF as early as possible has many advantages.”
Q: Who is most at risk of CF?
A: “Everyone, but the incidence does vary depending on race and ancestry. It’s more common in white people than other races.”
Q: What are the treatment options?
A: “There is no cure yet for CF so treatment in SA now is only able to manage the symptoms.
“Daily lifelong treatment includes digestive enzyme pills with every meal and snack, vitamins, nutritional supplements, nebulised medications and antibiotics to help clear mucous from the lungs, daily chest physiotherapy exercise to clear mucous, regular antibiotics to treat lung infections and sometimes intravenous antibiotics for two to three weeks at a time if infections are severe.
“Other regular treatments may be for sinus infections.
“People with CF must have regular check-ups with their doctors or CF clinic to monitor weight, lung capacity, lung infections and undergo regular blood tests, X-rays and scans.
“It’s likely that a lot of these treatments and check-ups will be reduced when people with CF start Trikafta.”
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