The whole family suffers from cystic fibrosis and the whole family needs help, mainly financial – emphasized doctors and parents on Monday at the conference inaugurating the XNUMXth National Cystic Fibrosis Week. Patients’ fate is to improve the Rare Disease Plan.
Since children with cystic fibrosis require comprehensive care, one of the parents – most often their mother – quits their job and takes care of a little patient. On the other hand, the father devotes himself to work, which often affects his contacts with the child – said Paweł Wojtowicz, president of the Foundation for Help for Families and People with Cystic Fibrosis MATIO.
In turn, prof. Wojciech Cichy, head of the XNUMXst Department of Paediatrics and the Department of Pediatric Gastroenterology and Metabolic Diseases at the Medical University of Poznań, reminded that fathers often leave their wife and a sick child because they cannot bear the burden of the disease.
Cystic fibrosis is considered the most common genetic disorder of the Caucasian race. It is caused by a mutation in the CFTR gene, which codes for a protein that regulates the transport of chlorine ions across cell membranes. Due to the mutation, patients produce excessively thick and sticky mucus, which lingers especially in the respiratory system and in the ducts that lead digestive enzymes from the pancreas to the digestive system. This leads to frequent infections and inflammation of the bronchi and lungs, difficulty breathing, coughing, problems with digesting and absorbing food, and consequently to malnutrition of the child. Very salty sweat is also characteristic, and some patients, especially men, may suffer from infertility.
Cystic fibrosis belongs to the so-called rare diseases. It is estimated that 1500 people in Poland suffer from it, although about 1000 are registered. This is due to the fact that only since 2009 all newborns are included in the genetic screening program for cystic fibrosis. It is very important because it enables the early implementation of the therapy.
As emphasized by prof. Quiet, living with cystic fibrosis requires a huge number of activities for both children and parents on a daily basis.
Regular inhalations, at least three times a day, a high-calorie diet are necessary, because children are exposed to growth retardation, medications, such as pancreatic enzyme preparations and antibiotics in case of infection, as well as daily rehabilitation and physiotherapy. A parent of a child with cystic fibrosis must therefore act as a doctor, nurse, physiotherapist and nutritionist, said Anna Sławianowska-Morawiec, mother of 16-year-old Kuba suffering from cystic fibrosis in an interview with PAP.
The treatment of a patient with cystic fibrosis is associated with high costs, because in Poland many drugs, such as pancreatic enzyme preparations that must be taken before each meal or supplements, are not reimbursed, emphasized Anna. According to her, the biggest problem is access to physical therapy at home, because not everyone can afford it.
Additionally, children with cystic fibrosis often have additional medical conditions and complications that require treatment. For example, Kuba underwent surgery to remove nasal polyps, he began to develop osteoporosis, he developed gallstones and gastroesophageal reflux.
Expenditure on therapy is a heavy burden on a family where one parent does not work, because he devotes himself entirely to caring for the child, not to mention the situations in which the mother is left alone with her child, because the father is leaving – emphasized Anna.
Parents and doctors believe that the introduction of the National Rare Diseases Plan would facilitate the comprehensive treatment of children with cystic fibrosis at home and allow their families to live with dignity.
At the Monday press conference organized to celebrate the Rare Diseases Day, Minister of Health Ewa Kopacz announced that such a plan would be implemented in Poland in 2011.
As part of the celebration of the 23th National Cystic Fibrosis Week, it will be possible, among others take advantage of free telephone medical consultations in XNUMX medical centers throughout Poland. Their list can be found on the website of the MATIO foundation (www.mukowiscydoza.pl). (PAP)