Thirteen years ago, Grégory Lemarchal died of cystic fibrosis, a serious genetic disease that mainly affects the respiratory and digestive tracts.
How is it caught, cystic fibrosis?
Cystic fibrosis affects one newborn in 4200. It is a genetic disease, transmitted to both boys and girls, when both parents are carriers of this genetic anomaly and which is absolutely not contagious. “Muco” affects the respiratory tract and the digestive system: the body of each of us produces mucus. This fluid substance lines and moistens the channels of certain organs in our body. But when you have cystic fibrosis, this mucus is thick and sticky: it will therefore cause difficulties in the respiratory and digestive tracts which may be obstructed. The disease is expressed differently depending on the person: some are more affected in the lungs and others in the digestive system.
How is cystic fibrosis detected?
Since 2002, a screening is done from birth in all newborns. The 3and day after birth, the medical team takes a little blood from the baby’s heel: the blood test can detect 5 diseases, including cystic fibrosis. The ” sweat test (the concentration of chloride ions in sweat is measured) then confirms the diagnosis. There is also a test of antenatal screening but it is reserved for people at risk: families of children with cystic fibrosis or couples who have already had a child with the disease. This test is performed around the 10and week of pregnancy by taking some placental fluid.
In children born before 2002 and who did not benefit from birth screening, the diagnosis is often made when they consult the doctor for stomach aches or diarrhoea. Or even in children who multiply bronchitis.
How do you live with cystic fibrosis?
Unfortunately, there is currently no treatment to cure cystic fibrosis. The care is based above all on sessions of respiratory physiotherapy which allow mucus to be evacuated, when the “muco” affects the respiratory tract, and on the prescription of pancreatic extracts when it affects the digestive tract.
Like all chronic diseases, cystic fibrosis is always present and the source of many difficulties. During certain periods, the patient suffers from outbreaks of bronchial infections and as he ages, this respiratory difficulty becomes more important.
To limit bacterial and viral infections, rigorous hygiene is essential, and contact with tobacco smoke is prohibited. On the other hand, it is advisable to play sports because it helps maintain respiratory function.
Cystic fibrosis is a plural disease. This is why, of personalized answers must be found for each patient in order to definitively stop the evolution of the disease by curative drugs taken over the long term. Ultimately, the objective is that cystic fibrosis no longer has an impact on life expectancy.
Are we still dying of cystic fibrosis?
Thanks to research and advances in medicine, the average age of life expectancy for patients with cystic fibrosis has increased and is now 34 years old. But you should know that the mucus present in the bronchi or the digestive tract has the property of retaining pathogens and promoting infections, which end up being fatal.
Faced with this observation, the researchers are trying to discover the molecule which will make it possible to interact with the protein of the gene carrying the disease to force it to “mutate”.
The Vaincre la Mucoviscidose association, which organizes the Virades de l’Espoir every September, estimates that there are 2 million carriers of the gene for the disease in France and that every three days, a newborn is a carrier. of the cystic fibrosis gene.
Where is the research?
The progress in terms of research, disease management and support for patients and their families that has been made in recent years is immense. In 10 years, the median age of death has increased by 8 years.
Since the discovery of defective CFTR gene implicated in cystic fibrosis in 1989, research has continued to evolve in order to offer patients an increasingly long life expectancy.
Gene therapy is interested in the cause of cystic fibrosis. Researchers are trying, with it, to transfer healthy genes into diseased cells.
Protein therapy is the most promising so far. It no longer focuses on the genes, but on the CFTR protein itself to correct its defects (poor placement, poor functioning, little or no production). Thanks to the latter, it was in 2012 that a first treatment appeared: Kalydeco® (ivacaftor). However, only 5% of French people correspond to the genetic profile allowing them to benefit from this treatment.
It took until 2015 to see the arrival on the market of a molecule making it possible to target the most common mutation in patients: F508del homozygotes. Combining two molecules, lumacaftor and ivacaftor, Orkambi® concerns 40% of French patients.
Currently, other treatments are awaiting marketing authorization in France. symkevi® (combination of tezacaftor and ivacaftor) and Kaftrio® (combination of elexacaftor, tezacaftor and ivacaftor).
The association Defeat Cystic Fibrosis is mobilized alongside other European associations to facilitate patient access to these new molecules.
