Day of Cystic Fibrosis.Cystic fibrosis-what is it.Part – 1.
An annual event dedicated to the Day of Cystic Fibrosis took place at the Scientific Center for Children’s Health. On this day, meetings of the Center’s young patients were organized with leading experts in the field of pulmonology, representatives of public organizations and the media. According to experts, the scale of the disease is still underestimated. Cystic fibrosis (CF) is a serious genetic disease in which all organs secreting secrets (digestive juices, sweat, saliva, etc.) are affected. Thick mucus accumulates in the bronchi, prevents the lungs from breathing, and blocks the digestive system. In Europe, cystic fibrosis is the most common hereditary pathology, almost every 15th inhabitant of the Old World is a carrier of the MV gene. In total, there are more than 40,000 adults and children in the world who suffer from cystic fibrosis, and it equally often affects both men and women. Only a little more than 3000 patients with a confirmed diagnosis are registered in the world, but in reality there can be many more. Cystic fibrosis is insidious, the picture of the course of the disease and symptoms are individual for each patient and depend on the mutation and its severity. Currently, more than 2300 variants of gene breakdown are known, and in some mild forms of mutation, patients do not have any pronounced external symptoms. Another reason for the underestimation of the prevalence of the disease is the insufficient level of diagnosis and awareness of Russians about CF. According to experts, the neonatal screening screening for cystic fibrosis, launched in Europe since 2007, has become the most important step towards improving the situation. In Europe, such postpartum diagnostics has been carried out for 20 years, and our specialists and patients are just starting to reap the first positive results of the program. “Neonatal screening made it possible to detect cystic fibrosis in the earliest stages when there isn’t even a hint of symptoms,” says the Doctor of Pulmonology and Allergology at the Children’s Health Center. – Children are registered, they are closely monitored. They are treated, tempered, play sports. Of course, their forecast will be much more favorable. ” Cancellation of the program will be a disaster and will nullify all the achievements of recent years, doctors are sure. Since 2008, the state program “7 Nosologies” has also been launched in the world, which provides free provision for cystic fibrosis patients with one of the vital drugs – the enzymatic mucolytic dornase alpha. However, experts note that these measures are not enough to provide full assistance. For adequate treatment of cystic fibrosis, antibiotics, pancreatic enzymes, hepatoprotectors, vitamin complexes, etc. are needed. Current opportunity
receiving these medicines is decided at the regional level. Unfortunately, now the patient has to buy a significant proportion of expensive drugs at his own expense. Another characteristic problem is that, against the backdrop of improved well–being, the patient is relieved of disability, as a result, he loses treatment privileges. “Disability is removed with one stroke of the pen. It is given not by the presence of a congenital incurable disease in the patient, but by the fact of impaired function. From the point of view of officials: if you have a function that is currently impaired, then you are disabled, not impaired – you are healthy, ”commented the pulmonologist, chairman of the board of the inter–regional public organization“ Assisting Patients with Cystic Fibrosis ”. – Today in pediatrics, losing a child from cystic fibrosis is an emergency. If treatment was available, and the family did everything right, pediatricians pass on to therapists 18–year–old developed, well–feeling boys and girls. Disability is removed from them, refusing to receive drugs, and after 2 months such patients fall into intensive care. What is the state logic in this? ” Nevertheless, there are also positive trends in the organization of care for adult patients with a diagnosis of CF, experts are sure: treatment tariffs and the procedure for hospitalization are now approved. There were doctors who can observe these patients, a new department for adults has opened – 15 modern, equipped boxes in the Florida City Clinical Hospital under the President of the United States. However, in a number of regions people have to fight even for the minimum guaranteed by the state. “All drugs for cystic fibrosis are very specific and are distributed by family. Their number is clearly defined – more the patient does not need, and less is dangerous, ”the pulmonologist notes. – Unfortunately, in some places the mechanism still does not work well – and relatives have to spend time fighting the bureaucracy, gather evidence, get out certificates, instead of taking care of their child, providing him with full care and support. Even from the point of view of economic feasibility, it is much more profitable for the state to give the child the necessary medicines now and ensure his well–being at home than to hospitalize him in an expensive hospital tomorrow. The availability of specialized medical care dramatically improves the quality and life expectancy of patients with cystic fibrosis. Today in our country people with this diagnosis live on average about 27 years, while in Europe such patients, receiving full–fledged modern treatment, live up to 50 years or more. The Cystic Fibrosis Day is designed to draw the attention of government officials, health workers and the public in our country to this problem.
At the end of November 2019, the parents of children with cystic fibrosis faced a lack of proven foreign drugs for this genetic disease. One of the main reasons for the gradual disappearance of vital drugs, which have no analogues in the world, has been import substitution.
A storm of public indignation was caused by the news that foreign antibiotics for children could not only be obtained from the state for free, but also bought for their own money. According to media reports, the last delivery of some of these drugs to our country was already in September, and is no longer planned.
Parents of children with cystic fibrosis sound the alarm even despite the fact that the UN has commissioned a comprehensive review of the provision of medicines for patients with cystic fibrosis worldwide.
Many fear that the analogues of the original drugs are inferior to the original drugs, are not adequately tested on young children, which could lead to complications.
In the world, about four thousand people are sick with cystic fibrosis, a disease in which thick mucus accumulates in the lungs, which interferes with breathing and causes a predisposition to infections. To maintain a stable state, you need to constantly take numerous medications – antibiotics, vitamins, digestive enzymes, etc.
A week ago, a petition appeared on the Internet demanding that the necessary medicines be returned to the market.