Few of us know about the existence of such a disease as porphyria. This disease exists and people suffer from it not on another continent and not just in Latvia - a case of porphyria was diagnosed in Daugavpils
Porphyria could be considered a completely ordinary metabolic disease, if not for the fact that almost all symptoms of a patient with porphyria are a typical vampire.
The disease is characterized by the fact that the body is unable to produce the main component of blood - red cells, which leads to a deficiency of oxygen and iron in the blood. This is due to the excess and accumulation of particles-porphyrins in the body. In the blood and tissues of the patient, pigment metabolism is disturbed, and under the influence of solar ultraviolet rays, the decomposition of deoxygenated hemoglobin begins. First of all, the patient's skin suffers from this: from the sunlight, the skin is brown, it becomes thin as paper, and bursts. The scar tissue formed after ulcers and inflammations damages even the cartilaginous tissue - the nose and ears, deforming them. The nails are also deformed, which later may look like the claws of a predator. The skin around the lips and gums dries out and loses its elasticity, teeth are exposed, peeping through the half-open mouth and creating an eerie grin.
Another symptom disfiguring the patient's appearance is excessive hair growth (hypertrichosis). Eyebrows become incredibly thick, hair grows even under the eyes.
In the daytime, such patients feel a lack of energy and lethargy, preferring to sleep. Their life is noticeably revived at night, when the destructive ultraviolet is not dangerous. Porphyria patients who do not receive the care they need can behave very strangely and even aggressively. Disfigured and consequently unsociable patients, appearing anywhere, can plunge into horror and panic bystanders. Thus, scientists believe, and the myth of the vampires was born.
Recently a young woman who suffers from this rare disease contacted the editorial office of a local newspaper. She asked for help.
Having studied this information, the journalist was waiting for an incredible meeting. But in one of the city cafes, a pretty young woman was waiting for him, fragile, with a pale face, completely different from the monsters described on the Internet. Sadness and despair were read in her large eyes. Evgenia told her sad story.
Of her 21, she has been suffering from terrible seizures for five years. Before that, Evgenia also had health problems, but she did not attach much importance to this. In recent years, attacks have become more frequent. Not even a month goes by without the woman's body shaking from terrible pains and writhing in convulsions. This whole nightmare can only be understood by an experienced drug addict who has experienced withdrawal.
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The absurdity of this situation lies in the fact that the exact diagnosis of Evgenia was made only recently - before that she was treated for various diseases. But the definition of an accurate diagnosis did not lead to a cure.
Every time, as soon as an attack begins, Evgenia calls an ambulance. The last time this service demanded a payment from the patient for transportation to the hospital. But getting to a medical facility is still half the battle. We still need to get the doctors to help. They get off mainly with a glucose drip. Every time Evgenia needs a lot of strength to get her anesthetic - this somehow alleviates her suffering. In fairness, it must be said that a woman's body does not take other medicines. The attack may intensify. How to treat such a patient, our doctors do not know or do not want to know. Some even believe that she is just a drug addict who needs to inject a “dose” and everything will go away by itself.
The nurses are afraid to approach Eugenia - in their opinion, an exhausted woman can attack them and, in the style of cheap horrors, bite into the neck. Unfortunately, when dealing with such a patient, the medical staff did not even bother to ask for information about this disease. Drinking blood in cases of porphyria is useless. This has no effect and later addiction may appear. In addition, according to Evgenia herself, she does not want someone else's blood. And during attacks, she can not take anything in her mouth at all. Due to such forced hunger strikes, the woman lost almost 40 kg during this year.
Regular visits to the Stradins clinic in the capital also yielded no results. There, Evgenia was named a medicine that could help. You can get it only in France and Sweden, but they did not explain how to do it without a prescription. It was reported that such a disease is not treated in Latvia, since it is very rare and Evgenia is the only one who has it. In this regard, the doctors gave her advice: to sit at home in a dark room and eat chocolate to replenish the body with glucose.
Evgenia is afraid not only for her health and life. As it turned out, porphyria in this family is transmitted through the female line. Eugenia's mother died at the age of 26. Doctors also treated her for various diseases, and only after an autopsy it turned out that she was sick with porphyria. Now Evgenia, who is raising a little daughter, suffers from this disease. The girl has no symptoms of this disease yet, but, as the doctor said, she can be diagnosed only after the baby turns 10 years old. As statistics show, if porphyria is recorded in one of the parents, then in 25% of cases the child also gets sick with it.
Fortunately, Evgenia's disease is still in its early stages. The next stage is the fear of daylight: the woman will not be able to lead a normal life. She will not be able to go to work, to the grocery store, or take her daughter to kindergarten. She will have to sit in a dark room all the time, since going out into the light will end with her skin beginning to burst, like vampires in a movie. Constant stay within four walls is likely to affect the psyche of a young woman and in general can lead to suicide. As Evgenia admitted, during attacks, bad thoughts already creep into her head at this stage. Despite the fact that porphyria is not a mental illness, it naturally has an extremely destructive effect on the psyche.
In order to prevent the development of the disease and provide a woman with a normal existence, doctors need to do very little: to conduct an accurate diagnosis and decide on the treatment. Find out which medications are suitable for Evgenia, and which ones can harm her. If Latvian doctors cannot cope on their own, then you need to send her to other medical centers.
Today, doctors around the world know a lot about porphyria. But the main thing is that back in the 18th century it was found that "vampirism" is treatable. You can turn a "vampire" into a normal person with the help of chemotherapy and frequent blood transfusions. Is it really so difficult for local doctors to try this method, find out what kind of blood is right for Evgenia, and regularly get transfusions? If incorrectly diagnosed and, therefore, treated, acute porphyrias are fatal diseases (mortality is, on average, 60%), since they affect vital organs that can simply fail. In medicine, about 80 cases of acute congenital porphyria are described, when the disease was incurable. On the contrary, accurate timely diagnosis and adequate therapy save almost all patients, returning them to a normal, full life.
Today experts say that genetic engineering will soon bury the most mysterious disease in the history of mankind - porphyria. A series of experiments with the DNA of some species of fish and mice have already been successfully completed: congenital porphyria will be corrected, and the acquired porphyria will be treated with the latest means.
It is believed that this rare form of genetic pathology affects one person out of 200 thousand (according to other sources, out of 100 thousand). But the fact that Eugenia is the only one in Latvia who has been diagnosed with this terrible diagnosis does not mean that there is only one patient with porphyria in our country.
So they said …
Aivar Zdanovsky
“I cannot comment on this case, because, by law, all information concerning the patient is confidential with us. I can only say that this disease is treated in a syndromic manner. There are no drugs in Latvia that treat this particular disease and they are not included in the state program. For a lot of money, these medicines can be obtained abroad.
As for the medical staff, he cannot be afraid of this patient - our doctors have seen something different. Patients are regularly admitted to the hospital who inflict various injuries on the nurses, but those suffering from porphyria are not among them. After all, we have guards who can pacify a violent patient.
Nadezhda Pavlova (Eugenia's family doctor)
»The medicine that my patient needs to relieve seizures is being ordered abroad. It costs a lot of money. Unfortunately, Evgenia does not want to go to the hospital for a full examination. Once I went to the Stradinia clinic, got one test and left. And in order to find out whether it is possible to make her life easier, it is necessary to pass more than one analysis and lie in the hospital. For the same reason, VTEK cannot give her a disability.
