Rynah Du Plessis’s daily routine is more involved than most six-year-olds.  Every day is a struggle to breathe. She was just 18 months old when she was diagnosed with cystic fibrosis, a genetic disease that makes breathing difficult.

Rynah must start her day nebulising with hypertonic saline. As she breathes, the saline mist helps clear the thick mucus that clogs her lungs and helps her breathe a little easier. Next: physiotherapy exercises, also to clear her lungs. This is her daily routine. Every morning. Every evening. 

She must also take a handful of vitamins every day. And with each meal, she has to take three enzymes to help her food digest. When she’s unwell, her routine intensifies. She nebulises up to five times daily and does physiotherapy three to four times daily. If she is very sick, she can spend up to two weeks in the hospital on IV antibiotics.

Her mother, Joelene Du Plessis says Rynah accepts her life is complex. “She could not start school until she was around 4. She had several ear infections that would lead to chest infections and was at doctors’ offices almost every week”, says Du Plessis. 

Hope for improvement fades

After receiving grommets just shy of her first birthday, they thought her condition would improve. But it did not. “I took her to her paediatrician when she started breathing strangely. An X-ray revealed something very strange was going on inside her right lung.  After ten days in the hospital, she came home with a CF diagnosis, confirmed by genetic tests and a sweat test”, says Du Plesiss.

According to the South African Cystic Fibrosis Association  (SACFA), CF is a genetic disease in which affected children inherit two copies (one from each parent) of the faulty gene that causes cystic fibrosis. 

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. 

Thick tenacious mucous build up in their organs, especially the lungs and pancreas, which is important for digesting food. Symptoms include weight loss and malnutrition, bloated stomach, tummy cramps, recurrent chest infections and a bad cough. Bacterial infections frequently attack their lungs, which eventually leads to permanent scarring.

Revolutionary CF treatment

Without treatment, CF patients often die in infancy, and their life expectancy is just 20 years in South Africa. Rynah is one of approximately 550 diagnosed cases in South Africa, and there are likely many more undiagnosed.

A new class of medicines has revolutionised treatment and significantly extended the life expectancy of patients in several high-income countries.  However, Vertex Pharmaceuticals, an American company, holds intellectual property (IP) monopolies on all of these drugs – known as CFTR modulators. The extremely high prices they set on elexacaftor/ivacaftor/tezacaftor (Trikafta/Kaftrio) drugs have led to global controversy and huge inequalities of access. 

SACFA, along with Vertex Save Us and Just Treatment (global campaigners and CF patient advocates), with guidance from Rare Diseases SA  (RDSA), are fighting back against Vertex to reduce the price of Trikafta for low-middle-income countries.

Fighting for life in court

Cheri Nel, a South African CF patient, submitted papers to the Gauteng High Court in Johannesburg seeking a compulsory licence – a form of IP flexibility – on Trikafta.  A trial date is pending.

A compulsory licence will allow CF patients in South Africa access to more affordable generic versions of this drug, as several South African CF patients have to access the generic CFTRS from Argentina.

For Rynah, affordable access to Trikafta could mean a normal life expectancy. “She could look forward to a more normal life – fewer hospitalisations in her future, fewer tablets and treatments that fill her days as a child and even more so as a young adult. It would prevent her from needing a lung transplant. It would mean health, time, less trauma and a bright future”, says Du Plessis.

Vertex blocks other suppliers

Despite patenting their products in South Africa, Vertex has not engaged with the government or health department to ensure access. It has not applied to The South African Health Products Regulatory Authority for regulatory approval. “Worse – they have patented their medicines in countries they are not supplying, like South Africa, blocking patients’ access to more affordable generic versions of the drugs in order to protect their profits”, says Nel.

Dr Marco Zampoli, paediatric pulmonologist and head of the CF Clinic at the Red Cross Children’s Hospital, says the average treatment costs, which are all-inclusive, are about R15 000 to R20 000 per month. “That does not take into account loss of productivity from missing school and work days due to illness.”

“Trikafta is a miracle drug. It works by helping the body produce a better quality CFTR protein which reverses the effects in the body. If started early in life, it will prevent irreversible damage to the organs, especially the lungs. It is a step towards a real cure.  Instead of dying at a young age, people with  cystic fibrosis can look forward to a much healthier and normal life, especially if started as children”, he says. 

Astronomical costs of treatment

Before Rynah was on medical aid, there was not much more her parents could do. Obtaining medical insurance meant she could now be nebulised with pulmozyme at night too. This medication costs R10 000 and helps with the management of paediatric and adult patients with CF.

“If the compulsory license that Cheri (Nel) filed is granted, it would mean affordable access to life-changing medication that can prevent the constant damage of this invisible disease and improve the quality of life and extend the life expectancy of my child and many other patients in and around South Africa “ says Rynah’s mother.

According to Kelly Du Plessis, CEO and Founder of RDSA, access to treatment in both the public and private sectors remains fragmented. “Rural patients have additional challenges in terms of referrals into tertiary centres, as well as logistical challenges such as transport costs, time off work, etc.  Access to effective treatment remains difficult in both settings due to high cost and budget constraints”. 

Du Plessis says there has been more awareness of CF, which ultimately will lead to increased patient numbers. “Newborn screening efforts in the private sector have proven effective in early diagnosis, but out-of-pocket costs for this screening reduces the availability to the population at large”, she says. – Health- e News