Drug offers hope for those with cystic fibrosis
Jason van't Slot is an extreme cyclist, public speaker and sales representative who lives in Noordhoek, but when he was eight months old he was diagnosed with cystic fibrosis, or CF, and his parents were told he would likely live 10 years.
On Saturday May 14, the 26-year-old completed an Everesting challenge − cycling an elevation equal to the height of Mount Everest (8848m) in 16 hours 12 minutes. This achievement during Cystic Fibrosis Awareness Month set a new cystic fibrosis world record and also raised R51 000 to help bring lifesaving medication to South Africa for those with the illness.
While there is no cure for cystic fibrosis and many of those who have it die in their 20s and 30s from lung failure, according to the South African Cystic Fibrosis Association, a new drug, which is known as Trikafta in America and Kaftrio in Europe, genetically modulates and corrects the defective protein behind cystic fibrosis, restoring lung function, reducing symptoms and extending lifespan.
“The cystic fibrosis community didn’t know if a medication for this chronic lung condition would be available in our lifetimes. Now it is, but due to our geographic location and the medication’s financial cost it’s impossible for most of us to get,” says Jason.
Presently only 12% of those with cystic fibrosis around the world have access to the drug which has only been around for about four years, he says.
Margy Gibbons, a social worker at the cystic fibrosis clinic at Red Cross War Memorial Children’s Hospital has over 20 years experience working with people living with this recessive genetic disorder.
”CF primarily affects the lungs and the pancreas. Thick sticky mucous can collect in the lungs resulting in risk of infections, and since the pancreas is also affected this makes digestion of food impossible for some living with CF,” she says.
Treatment includes daily physiotherapy, using digestive enzymes every meal and snack and careful medical follow-up.
As for breathing during cycling, Jason says, it’s like breathing through a straw. “I’m known for coughing and spluttering during a race with phlegm all over me. It's like breathing in syrup which then lines all my organs making it a breeding ground for bacteria and leaves scarring on the organs causing permanent damage.”
Cycling, especially mountain biking, is good for him as the vibration helps to dislodge the phlegm, he says.
Another complication is his pancreas and diabetes. “It has features of both type 1 and type 2 because the pancreas is still working, but there are differences in how it develops and is treated,” says Jason.
Another issue is vitamin K which is responsible for clotting. “This was the doctor’s biggest concern when I did the Cape Epic because of falling and having internal bleeding. Also, my organs are enlarged and below my rib cage and exposed to injury. I was extremely small. As a 15 year old people thought he was 12.”
As a child, Jason played soccer, cricket and basketball. After a soccer injury, Jason’s dad, Barry, suggested he train with him for the Cape Epic. He enjoyed it and was soon hooked. In 2010, they did the Cape Town Cycle Tour together. The day before, Jason promised his dad that he would one day ride a sub-3 Cape Town Cycle Tour. In 2018, despite a puncture, Jason scraped in under three hours to become the first person with cystic fibrosis to do so. He came in the top 3.5%. Two years later, he completed his second sub-3, clocking a time off 2:52:57, placing him in the top 2.5%.
In 2015, he and cycling partner, Philipp Sassie, completed the Absa Cape Epic.
Mischa Bester, 19, of Plumstead matriculated last year and enjoys surfing, journalling, anything to do with nature and the beach and spending time with friends. She was 2 when she was diagnosed with cystic fibrosis.
Growing up, being sick, taking meds and doing daily treatments was the norm. “I started to understand more in primary school because things for me were different to my classmates, such as having to take tablets before we went out at break times,” she says.
In Grade 7, aged 13, she realised that she had a chronic illness that could shorten her life. “Physically, I feel like I’m carrying a load of two sets of lungs. The constant coughing really irritates me. Emotionally, I battle to accept that I’m sick and that my illness limits me. I’ve been doing all the necessary treatments since being diagnosed, but sometimes it’s too much, and I wish I could take leave from this every day routine.”
Over six months ago, she ended up in Constantiaberg Mediclinic. “My lung functions had become very low at 51%. Being on loads of meds daily was just draining and it did not seem to be helping. I realised I needed to listen to my body and it was time to do a hospital stint, and so I surrendered. I was on steroids daily, many IV drips with antibiotics, physio sessions twice a day and nebulisers every four hours.”
She adds that hospital is exhausting and vitals are checked four-hourly. “I’m a very easy patient even if I say so myself. The team was wonderful, and 16 days later I left having improved my lung functions by 24% to 74%, the best it has been in years.”
Mischa says she does not share much information about her condition with her friends and neither does she "act sick" around folk. “However, some of them know because my mom tells them, which really annoys me, but they don’t treat me any differently.”
Mischa dreams of becoming a doctor or serving in hospitals and would love to work with children who are intellectually disabled. “But due to my health there are many challenges around this,” she says.
She is trying to accept having CF and living as if she does not have it. “It is not easy at my age, but I strive to make it better. I’ve got a lot to be grateful for and do have more and better choices than some sufferers that are worse off than me.”
Mischa asks people to support the South African Cystic Fibrosis Association. “Cystic fibrosis is a disease that is often not understood by the general public, teachers and leaders and so on. A CF patient can look very well on the outside, but we are always sick on the inside. Please help us to get this ‘wonder medicine’ into our country and CF clinics.”
A givengain page has been set up to raise money to support efforts to make Trikafta/Kaftrio available in South Africa at an affordable price.
Visit sacfa.org.za for more information about cystic fibrosis or email info@sacfa.org.za to register on a database of people living with CF in South Africa.
