On September 8 was celebrated World Cystic Fibrosis Day, an information day on this genetic disease, in order to denounce inequalities in treatment. It is estimated that, in Spain, Cystic Fibrosis occurs in 1 in 5.000 births, but it is considered that one in 35 people are healthy carriers of the disease.
This is one chronic disease of genetic origin affects different organss, especially lungs, liver and pancreas. Here we give you more details about this disease.
What is it, what are its symptoms and how is it diagnosed?
As we have discussed the Cystic Fibrosis is a chronic and hereditary disease of an autosomal recessive nature.. This means that if a person you inherit the faulty gene from both parents, you will get the disease. But if you inherit a normal gene and a defective gene, you will be a carrier of it, without suffering from it, but with the possibility of transmitting it to your offspring.
As it affects from birth, and has a limited life expectancy, its prevalence is higher in younger people. A report from the Cystic Fibrosis Foundation done in 2014, estimates the average life expectancy of patients around 39 years. Lung or liver transplantation is almost always necessary, sooner or later.
The characteristic symptoms Of this disease are the salty taste of the skin, frequent respiratory problems, digestive problems and lack of weight. The most important thing in Cystic Fibrosis (CF) is a early diagnostic because it prolongs the life expectancy of the patient and improves their quality and daily life. In Spain the detection of this pathology is done through the heel test. If you want to know what this test consists of, see this article.
Treatments for CF
If before we said that There is no cure, there are medications and exercises that alleviate the symptoms and improve the quality of life of patients, mostly children. Treatment is based on three fundamental pillars:
- Proper nutrition It is necessary to take pancreatic enzyme supplements for proper absorption of fat and fat-soluble vitamins.
- Pharmaceutical products that fight against respiratory infection and inflammation.
- Regular practice of physical therapy. It is recommended to practice sports, in addition to doing respiratory physiotherapy daily to eliminate the accumulation of mucus and maintain adequate lung function.
The Spanish Federation of CF together with other rare disease associations, claims the need for access to the latest treatments for the disease for all people who need them, such as Orkambi and Symkevi. Both drugs are approved by the European Medicines Agency (EMA) and by the Spanish Agency for Medicines and Health Products (AEMPS), but they still cannot reach people with Cystic Fibrosis because the Ministry of Health and the Vertex Pharmaceuticals laboratory have not reached an agreement regarding its price. The Federation has transferred this situation to the Ombudsman and the Senate.
The Interministerial Commission on Drug Prices has agreed on a financing proposal that the Vertex laboratory does not accept and will present allegations again at the next meeting on September 30. So we will hear from them again, as on the 21st of this month new mobilizations have been called in Madrid.
Cystic Fibrosis at school
So that many teachers and students have complete information about this disease, which it is not contagious at all, a school guide has been published. Is the you can download directly from the federation page, and its objective is that the teaching staff can help school performance, and the social and educational integration of these boys and girls.
One of the concerns of parents when children go to school is who will give them their medications, if they will let them go to the bathroom when requested, if they will notify them that there is a partner with a cold or if they drink enough. All these details are not minor for a child with cystic fibrosis.
This publication is financed thanks to a project of the ONCE Foundation.