The Department of Medical Genetics at the Russian Children's Clinical Hospital helps children who suffer from cystic fibrosis (or mucoviscidosis, from the Latin mucus and viscidus, viscous). This disease first became an object of attention in the 1930s, but its origin was yet unknown at that time.

Cystic fibrosis is the most widespread hereditary disease, affecting all organs characterized by secretion of mucus: bronchopulmonary system, pancreas, liver, sweat glands, salivary glands, intestinal glands, and sex glands. Because of genetic defects, the mucus in all the organs of a sick person is thick and viscous, and therefore its excretion is impeded. Inflammatory processes, such as multiple bronchites and pneumonias, quickly (sometimes as early as during the first months of life) develop in the lungs because of the viscous sputum. The children have a constant irritating cough and dyspnea. Because of the shortage of pancreatic enzymes, children with cysticbfibrosis have digestive troubles, and therefore they gain weight poorly. Problems with bile discharge cause some children to develop hepatic cirrhosis, and some may have stones in the gallbladder. Mothers notice that their child's skin is salty, because larger amounts of sodium and chlorine are lost with sweat. Some children suffer mostly from pulmonary or gastrointestinal disorders (the pulmonary and intestinal forms of the disease, respectively), but the most common form is the mixed one.

The gene responsible for cystic fibrosis was discovered only in 1989. Since then, a major breakthrough in medical genetics took place, since now we know about 900 kinds of genetics defects causing cystic fibrosis. Apparently, this disease is quite "young" for the medical community, and therefore the success achieved in its treatment should be deemed as very significant. In the 1930s or 1940s, the average life expectancy of such patients was five years, and now people in Western countries reach, on average, the age of 30-35. In Great Britain, patients (born, say, in 1998) with various forms of cystic fibrosis are guaranteed an average life expectancy of 40 years. But in Russia, such patients seldom live more than 16-17 years.

The genetic mutations causing cystic fibrosis may be of varying degree of severity. The condition and physical development of a child depend not only on early diagnosis and beginning of treatment but also on the actual mutation: either a "hard" mutation causing a severe form of the disease or "soft," sparing mutations. Without relevant treatment, patients with more severe mutations will have serious and irreparable multiple problems quickly leading to death.

At the present stage, one should understand that this diagnosis should no longer be regarded as fatal and inevitable. Ten years ago, when our department started functioning, it was very difficult to arrange genuine collaboration with doctors from other departments of our hospital, because the children were extremely ill and died at a very young age. Patients aged 13 or more were very rare, and those who managed to reach this age were already in the terminal stage. Now the situation has changed. Unfortunately, doctors in many regional hospitals are still convinced that this disease is totally fatal; we usually receive this information from the parents of our young patients who come to our hospital from various Russian regions. Our research department is now collecting information on the destinies of all Russian patients with cystic fibrosis that were consulted at our hospital at least once. Now the disease is regarded as a serious chronic one. We even have a group of adult patients: young men and women aged 22-25, studying at universities, working, with certain achievements in computer science or linguistics. One of them is an electrician at the Ryazan hydroelectric power station; some of the children have good achievements in sports, like one wonderful boy from Moscow, who has a sports rating in tennis. Now, telling the diagnosis to the parents, we no longer say "unfortunately, your child will not live long." Yes, indeed, this disease is incurable, but one should never say a patient's life will not last long. Nobody knows how long this or that person may live. We see that the number of teenagers and grown-ups with good vital function of the lungs, with good physical development increases year after year. Seeing such children, we feel a certain optimism as to our future. We hope that our patients will be able to live a family life sometime, to experience the joy of love. Some of our children have already confessed me that they have had such an experience. This is something to be proud of, because cystic fibrosis and secondary sex characteristics had formerly seemed incompatible; the children's physical development had been greatly under their age.

Our aim is to convince our colleagues that people with cystic fibrosis are not doomed. The society should know that these children can grow up and live a full life if they are given adequate and systematic treatment. All of them have good intellect; moreover, many of them are very talented in some areas. They can and surely will serve the society, and therefore the society must help them now. The doctors are doing what they can, but the financial support of our medical needs is very scanty, and so we only hope that the broad public will understand us and join us in our struggle. After all, cystic fibrosis is one of the most widespread hereditary diseases. For example, diabetes mellitus is also a serious and incurable disease, but continuous replacement therapy lets people with this disease live for many years, form families, and reach an old age. There are many incurable diseases that can be nevertheless controlled throughout the patient's life, and thus the patient is not deprived of the joys he or she may ever have.

We also pin great hopes on prenatal diagnostics, when we can help families with ill children to give birth to a healthy child. For example, formerly we had to know two genetic defects (the father's and the mother's) to determine the presence of a fetus affected by the disease or a healthy carrier fetus. Now, using indirect molecular, biochemical, and other information, we can obtain the data required for the prenatal diagnostics of cystic fibrosis in virtually all the families. To do this, we analyze the blood of both parents and the fetus and look for identical parts in the 7th chromosome. Prenatal diagnostics is performed in the 8th to 10th week of pregnancy. We insistently recommend the mothers of our patients that they should not wait too long before getting pregnant again. Unfortunately, some mothers do not agree to have another child. Some are psychologically depressed by the existence of a sick child, and they are afraid to give birth to a healthy baby in fear of neglecting an ill one. Some have no money for living, to say nothing of the treatment, and even a heatlhy second child is simply impossible in such a family.

Now about the treatment and diagnostics of cystic fibrosis in other regions. There is a wonderful center in St. Petersburg. Those brilliant doctors are our partners; they have a very good research base. In a sense, the situation there is even somewhat better than in our hospital: there is a children's department on the basis of a "multifield" hospital for adults. As the children grow, they are just transferred to the adult department of the same hospital. Therefore, the situation in that center is unique for our country: the same doctors work with the same children, and this experience is truly valuable. There are also promising centers in Ekaterinburg, Yaroslavl, and some other cities. However, judging by the parents' words, the general situation with the diagnosis and treatment of cystic fibrosis in provincial regions of Russia is sad. But I don't think we should regard all regional doctors as incompetent. Maybe they just have no money at all. Maybe they have no adequate conditions for their work. And probably the doctors who refuse to treat such children just have insufficient knowledge and experience in our field. In our hospital, there are no problems with specialists and with the research support. Of course, we also have losses, and they are painful but, unfortunately, inevitable. We are glad when specialists from various regions come to us on probation; many of them take great pains to examine children at our department and to study their case histories. There are children with different forms of the disease, and therefore it is totally senseless to study cystic fibrosis only by books and lectures. Each patient requires a special approach, and there are always numerous individual details.

Now about our collaboration with foreign colleagues. We have good friendly contacts with the St. Hampton clinic in Great Britain (Dr. P. Rolls), with German clinics, and also with Jean Chevalier, a well-known physical therapist from Belgium, who taught the staff of our research department the methods of breathing exercises for patients with cystic fibrosis. All the members of our staff participated in working visits to foreign coutries and could see how cystic fibrosis is treated abroad. The treatment is good. But actually our treatment is just as good, because the foreign specialists have taught us, and our therapeutic principles are identical to those accepted throughout the world. The only difference is that patients in developed countries receive continuous aid at the federal level; the state ensures uninterrupted supply of medicines and the whole set of vitally important substances. They include enzymes (Creon or Panzytrat), mucolytic drugs for thinning the thick secretory fluids (ACC and Pulmozyme), and modern antibiotics (Fortum, Tazicef, Ciprobay, Meronem, Tienam), because our patients are highly susceptible to infections, such as staphylococcus, Pseudomonas aeruginosa, or internal fungal diseases. Each child must necessarily have an up-to-date compression inhaler. Adequate therapy of a child suffering from cystic fibrosis costs the state about 10,000 USD per year.

If a patient receives the basic federal treatment program throughout his or her life, this child develops quite well during early infancy, gains weight, grows, and the exacerbations may be treated in time. Then the patient is taught how to live with cystic fibrosis, and such people can live to mature age. We treat patients according to the same principles as our Western colleagues, we are capable of doing the same, but unfortunately, in contrast to them, we do not have the same continuous supply of medicines. Only Muscovites are in relatively good situation, because the city government understands our problems and supplies the patients living in Moscow with mucolytics, antibiotics, and enzymes for free. Therefore, our Moscow patients demonstrate better results of functional tests and have better physical development compared to children from other regions.

Cystic fibrosis is a disease whose treatment should be started as early as possible, from the moment the diagnosis is known, and only then it will be successful. We want to treat this disease and can do it, even more so because there are good progress and good opportunities in this treatment. We have highly qualified and reliable staff. People work here for years and do not quit, and I am infinitely grateful to them.