Since 2013, September 8th has been designated as World Cystic Fibrosis Day by decree of the International Cystic Fibrosis Association. On this day, the main goal is to make people aware of the disease, to provide information about it to as many people as possible.against any strange disease The best way to help is to let others know the reality of people living with this disease and living with these symptoms day in and day out.
This condition is a chronic genetic disease. This genetic change primarily affects parts of the body that produce secretions, including the lungs, pancreas, liver and reproductive system.
this cystic fibrosis It affects the cells that produce mucus, sweat, and digestive juices. Normally these fluids should be light and slippery. But in people with cystic fibrosis, a faulty gene causes the secretions to become sticky. Instead of acting as a lubricant, these secretions clog tubes, ducts and passages, especially in the lungs and pancreas.
According to data provided by the Spanish Cystic Fibrosis Foundation, the estimated incidence of cystic fibrosis in Spain is 1 in 5,000 cases birth, while 1 in 35 residents is a healthy carrier of the disease.
María José is a mother from Granada whose child has the condition. Their son, now eleven, was diagnosed with the disease when he was just a five-week-old newborn. “In our case, both parents were carriers, and our son had a 50 percent chance,” the boy’s mother said. Like many families, all of this came as a surprise to them because it was a rare disease and they were first-time parents. Maria Jose admits, “As a first child, eventually you idealize having a healthy baby and you find out he has a disease that you don’t know about.”
This rare disorder can be diagnosed within the first month of life, and in premature babies it is sometimes not until the first symptoms appear.Currently the best early diagnosis is newborn screening or Test the heels. In Spain, 91% of diagnoses are made with this test. The mother from Granada said: “Since they diagnosed the disease with the heel test, my son was one of the first people in Andalusia to be diagnosed by this method, because they have been diagnosed since the day he was born. It’s been doing that for years.”
Symptoms vary depending on the severity of the disease in each individual, Respiratory and Digestive Symptoms. Factors affecting the respiratory system include a persistent cough with thick mucus, difficulty with movement, frequent lung infections, nasal congestion, or recurrent sinusitis.
The characteristic phlegm that forms in cystic fibrosis can also block the tube that carries digestive enzymes from the pancreas to the small intestine. Without these enzymes, the gut cannot function properly, causing problems with nutrient absorption. This can cause symptoms such as poor weight gain or growth complications, chronic constipation, or bowel obstruction. These signs can lead to other diseases, such as diabetes or liver disease. Other complications that may develop if you have cystic fibrosis include male and female infertility or osteoporosis.
María José’s son suffers from fibrosis of the respiratory and digestive systems. To prevent respiratory infections, you should take antibiotics every twelve hours each day. “He has to do breathing exercises and antibiotics every day.” On the digestive side, he has exocrine pancreatic insufficiency, so he has to take pancreatic enzymes. “In meals containing fat, these enzymes must be provided and vitamin intake always supplemented, since it also does not synthesize fat-soluble vitamins. He has to take about fifteen pills a day,” concluded his mother.
This disease, so far, is a disease for which there is no cure. Medications that cystic fibrosis patients take can reduce the symptoms they suffer and make their daily lives more tolerable, but they cannot completely cure the disease.Based on this factor, treatment of cystic fibrosis patients should focus on Antibiotic therapy, respiratory physical therapy, adequate nutrition, and physical activity.
In recent years, cystic fibrosis has undergone a revolution in treatment. The development of modulators of the CFTR protein and its expansion to a growing number of mutations and age groups is leading to significant improvements in the quality of life of many people with this disease. These treatments do not cure the disease, but they can slow down the deterioration caused by the disease.
However, 30% of cystic fibrosis patients in Spain still do not benefit from any of these modulating treatments. The Spanish Cystic Fibrosis Foundation therefore asks to develop strategic actions and allocate the necessary resources to guarantee the advancement of this field and of the personalized medicine research that is yielding good results.
Cystic Fibrosis in Andalusia
this Andalusian Cystic Fibrosis Association (AAFQ) is a regional nonprofit association dedicated to improving the quality of life for people with disease. The association was founded in 1986 by a group of relatives of children with the disease to combat the effects of the disease and access better care.
They also have a professional team of social workers, physiotherapists, psychologists, administrative assistants and nutritionists covering all of Andalucia from Seville and Granada.
According to data from the agency, since the beginning of this year, our province 33 confirmed cases in Granada for this rare disease. On the other hand, the association has 677 family members of cystic fibrosis patients, 42 of whom are from this city.
Through their work, they have managed to improve the quality of life for many families, allowing them to strengthen their bonds with others in the same situation. The AAFQ said they want cystic fibrosis to become a known disease and that all patients receive the best possible care on a hospital ward.
AAFQ and the Spanish Cystic Fibrosis Foundation, the Spanish Cystic Fibrosis Federation and the Spanish Cystic Fibrosis Association have called for more support for research to achieve important and effective treatments for all people living with the disease, and Ultimately healed.