Estelle has lived with cystic fibrosis since birth. She tells us how an innovative treatment transformed her quality of life.
- Estelle was diagnosed with cystic fibrosis when she was 8 years old.
- For her, this genetic disease was mainly manifested by respiratory problems and lung infections, which exhausted her and had an impact on her social life.
- Three years earlier, the patient received Kaftrio, a drug that aims to restore activity of the CFTR protein. It allowed him to find the energy of a person of his age.
“When I was little, I often suffered from digestive disorders and an incessant cough. After several years of wandering, the doctors diagnosed me with cystic fibrosis, I was 8 years old”, says Estelle, who is now 32 years old. At that time, this genetic disease, which is characterized by viscous secretions in several organs (mainly the lungs and the pancreas), was not systematically screened at birth. But, since 2002, neonatal screening is done in the maternity ward on the third day of life.
“In my family, I am not the only one to be affected by cystic fibrosis. I have three brothers, one of whom is also affected by this rare and progressive pathology. All of this is the result of chance, there is a risk in four of having a child with cystic fibrosis when both parents carry a mutation in the CFTR gene responsible for the disease“, explains the pharmacist. According to her, there are currently 2,000 identified mutations of the CFTR gene. Depending on the nature of the mutation carried by a patient, cystic fibrosis, which affects more than 7,600 people, will be more or less severe.
Cystic fibrosis: “I was exhausted, every effort was calculated in my daily life”
In the thirties, this disease was more and more present with age. “As the years went by, the respiratory problems were more and more important. I often developed lung infections, which required the taking of oral and intravenous antibiotics. The cough no longer left me, day and night, I never I had no respite. I no longer slept, I was exhausted, every effort was calculated in my daily life. I no longer saw my friends. Cystic fibrosis took up a lot of space in my life and led to my social isolation”, says Estelle. At that time, his first objective was to privilege and preserve his professional life. “I wanted to keep my full-time job because it represented stability, which I no longer had and it was a driving force for me.” During this period of her life, the Parisian was very supported by her family and friends. “That’s what kept me going in difficult times. for me but also for my brother whose state of health deteriorated at that time”, adds the member of the association Overcome cystic fibrosis.
Kaftrio: “I found the energy of a person of my age”
In 2020, the patient began to benefit from a drug, called “Kaftrio”, which improved her quality of life and her prognosis. “Thanks to this innovative treatment (composed of three molecules), which aims to restore activity of the CFTR protein, I cough less, I have fewer severe lung infections and I have regained the energy of a person of my age. In addition, the therapeutic load has been considerably lightened”, declares Estelle, before specifying that we must however remain cautious about the long-term efficacy and safety of this recent drug, for which scientific knowledge is being built over time.
“This treatment has changed my life, but I hope that solutions will be found for people who cannot benefit from it. Because yes, 35% of patients are not eligible for this drug, either because of their age or because they have a rare genetic profile or have undergone a lung transplant”, points out the pharmacist, who is currently followed by various specialists (pneumologist, physiotherapist, dietician, etc.) in a Resource and Skills Center for Cystic Fibrosis (CRCM).
To maintain and even develop her respiratory capacity, she began respiratory rehabilitation. “Sport goes hand in hand with Kaftrio. When you live with this hereditary disease, you have to be rigorous with your treatments, but physical activity is also essential. You have to force yourself to move every day to maintain physical condition. satisfactory”.
