What Is CF?

CF is inherited. This means it’s passed from parent to child through genes. A gene is a part of your body’s cells that stores instructions for the way your body grows and works. Genes come in pairs—you get one of each pair from each parent.
Your baby has to inherit a gene for CF from both parents to have CF. If they inherit the gene from just one parent, they have the gene for CF, but they don’t have the condition. When this happens, your baby is called a CF carrier.

If your baby does have CF, they may have these signs and symptoms that can be mild or serious:

• Coughing or wheezing
• Having lots of mucus in the lungs
• Many lung infections, such as pneumonia and bronchitis
• Shortness of breath
• Salty skin
• Slow growth, even with a big appetite
• Meconium ileus, when meconium gets stuck in a newborn’s intestine. Meconium is a baby’s first bowel movement. It can be green, brown or black in color.
• Bowel movements that are frequent, loose, large or look greasy
• Stomach pain or bloating

Many lung infections in babies who have CF are caused by bacteria that don’t usually cause problems for healthy babies.

If your baby has CF, medicines like antibiotics often cannot get rid of all the bacteria in their lungs. These infections can lead to lung damage.
Your child’s treatment depends on the kind of symptoms they have and how severe the symptoms are. Certain medicines can help children with CF breathe better and prevent infections. Some come as a mist that your child breathes into the lungs. Medicines used for CF include:

• Mucus-thinners. Medicines like dornase alfa (Pulmozyme®) help thin mucus, making it easier to cough out.
• Bronchodilators. These medicines help open the airways to clear mucus from the lungs. Albuterol (Proventil® and Ventolin®) is an example.
• Antibiotics. These are medicines that kill infections caused by bacteria. Tobramycin ( Tobi®) is a common inhaled antibiotic, and azithromycin is a common antibiotic taken by mouth.
• Ibuprofen. This medicine can help reduce lung redness and swelling that make breathing difficult.
• Hypertonic saline. Inhaling this salt-water mist helps draw more water into the airways. This helps thin the mucus.

Your child’s doctor may recommend that they get lots of physical activity or that you use other therapies to vibrate (shake) the chest to help loosen mucus in her lungs.

This can make it easier for your child to cough mucus up and out of the lungs.
If your child’s CF becomes life-threatening, a lung transplant may be an option. This is a major operation that is becoming more successful in treating CF.

Just follow the instructions on this link.

The build-up of sticky mucus in the lungs can cause breathing problems and increases the risk of lung infections. Over time, the lungs may stop working properly.

Mucus also clogs the pancreas (the organ that helps with digestion), which stops enzymes reaching food in the gut and helping with digestion.

This means most people with cystic fibrosis don’t absorb nutrients from food properly and need to eat more calories to avoid malnutrition.

Symptoms of cystic fibrosis include:

• recurring chest infections
• wheezing, coughing, shortness of breath and damage to the airways (bronchiectasis)
• difficulty putting on weight and growing
• yellowing of the skin and the whites of the eyes (jaundice)
• diarrhoea, constipation, or large, smelly poo
• a bowel obstruction in newborn babies (meconium ileus) – surgery may be needed

People with the condition can also develop a number of related conditions, including diabetes, thin, weakened bones (osteoporosis), infertility in males, and liver problems.

There’s no cure for cystic fibrosis, but a range of treatments can help control the symptoms, prevent or reduce complications, and make the condition easier to live with.

People with cystic fibrosis may need to take different medicines to treat and prevent lung problems.

Physical activity and the use of airway clearance techniques may also be recommended to help clear mucus from the lungs.

People with cystic fibrosis also have a higher risk of developing other conditions.

These include:

• weak and brittle bones (osteoporosis) – medicines called bisphosphonates can sometimes help
• diabetes – insulin and a special diet may be needed to control blood sugar levels
• nasal polyps and sinus infections – steroids, antihistamines, antibiotics or sinus flushes can help
• liver problems
• fertility problems – it’s possible for women with cystic fibrosis to have children, but men won’t be able to father a child without help from fertility specialists (see a doctor or fertility specialist for more advice)

People with cystic fibrosis should not meet face to face. This is because they’re more likely to spread infections, and more vulnerable to complications if they do develop an infection.

Based on 2019 Registry data, the life expectancy of people with CF who are born between 2015 and 2019 is predicted to be 46 years. Data also show that of the babies who are born in 2019, half are predicted to live to be 48 years or older.

Survival statistics for the years 2015 through 2019.

To understand what this means for our community, it is important to understand how these numbers are calculated and what they represent. 

Median predicted age of survival refers to a median (the mid-point of a number set), while life expectancy refers to an average — but the terms are often used interchangeably. It is a calculation that looks at the CF patient population, as captured in the Registry, at each age in a single year. This methodology is an internationally accepted calculation for determining life expectancy.

 The latest CF Foundation Patient Registry data show steady gains in survival for people with CF. Because CF is a rare disease, however, small changes in the population can have a noticeable impact on survival calculations. Statisticians and clinicians caution against putting too much emphasis on data collected in a single year, which is why it is important to keep in mind that life expectancy at birth is a calculation that can fluctuate from year to year and may decrease in the future.

Data also show that of the deaths reported in the Registry in 2019, known as the median age of death, half occurred before the age of 32 — meaning too many people with CF miss the opportunity to finish school, begin careers, start families, and reach other milestones.

For those living with the disease, many still face significant challenges, including frequent hospitalizations, complications such as CF-related diabetes and depression, and time-consuming treatment plans that can take 2 to 3 hours a day.

Many people with CF report mental health challenges.

So, we still have a long way to go — particularly for those who have mutations that result in faster and more severe disease progression, who do not yet have disease-modifying treatments approved to address their mutation, or who cannot benefit from modulator therapy due to advanced disease.

The Drug development pipeline

South Afican CF registry

78.6 % of CF patients in SA are eligible for CFTR modulator therapy

54% of CF population in SA are children, 46% are adults

There is no cure for cystic fibrosis, it affects more than 600 people in SA. 

Vertex Pharmaceuticals’ Trikafta (Kaftrio in the UK) is the world’s first triple combination cystic fibrosis therapy.

It works for CF patients with at least one copy of the AF508 mutation (roughly 90% of all CF patients could benefit). 

The treatment is a CFTR modulator, meaning it works to improve the function of the CFTR protein, thereby reducing a wide range of CF symptoms. While it is an ongoing treatment, it is the first one that addresses the problem at the source and has been ground-breaking for patients in countries with access to it.

An anonymous NGO and Vertex Pharmaceuticals have started supplying Trikafta® in full recommended dose to eligible patients with CF in SA who are on selected comprehensive medical aid plans (e.g. Discovery Health Comprehensive Plans) at no additional cost to patients.

Some other medical aids have also started to cover the costs in full/ partially on an ex Gratia basis. For more information about this process, please contact us at: mare@breathtakingfundraising.co.za

We advise all patients to contact their doctor/CF specialist to inquire about the program for more information.

Trikafta® is still not registered in SA, so SAHPRA Section 21 approval every 6 months is still required. It will be imported and distributed by a local company which will make it available through your pharmacy once all the approvals and paperwork have been obtained and submitted.

Normal functioning of the CFTR on cellular level:

The CFTR gene provides instructions for making a protein called the CF transmembrane conductance regulator (CFTR). This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes. The channel transports negatively charged particles called chloride ions into and out of cells. The transport of chloride ions helps control the movement of water in tissues, which is necessary for the production of thin, freely flowing mucus. Mucus is a slippery substance that lubricates and protects the lining of the airways, digestive system, reproductive system, and other organs and tissues.
The CFTR protein also regulates the function of other channels, such as those that transport positively charged particles called sodium ions across cell membranes. These channels are necessary for the normal function of organs such as the lungs and pancreas.

What happens in patients with CF:

On a cellular level the CFTR channels do not function as they should, resulting in poor chloride ion exchange and therefore leading to thick and sticky mucus which leads to multi organ damage.

Trikafta/ Trixacar targets this exact channel by binding to different places on the CFTR proteins to reach the cell surface, where it then helps the CFTR proteins to stay open longer: letting chloride- ions pass through the CFTR protein. This immediately leads to thinner and less sticky mucus, which in turn will lead to less lung exacerbations, chronic sinusitis and other CF related symptoms.

The Cystic Fibrosis Transductor