ACUTE PORPHIRIA – A RARE GENETIC DISEASE , in which the synthesis of heme, a part of the hemoglobin molecule, is disrupted. In the body of patients accumulate toxic substances that kill the nervous system. The attacks are accompanied by unbearable pain throughout the body, and if the patient is not given medicine in time, he can be paralyzed. Acute forms of the disease, according to various estimates , occur in 7-12 cases per 100 thousand people, but many carriers of abnormal genes have never experienced seizures in their lives and may not even know about the diagnosis.
Due to the exotic nature of the disease, doctors often fail to establish the cause of the pain for a long time , therefore, many attacks of porphyria end in the death of patients. Among the factors provoking an exacerbation are hormonal fluctuations, so women suffer from the disease more often than men. An attack can still cause dramatic weight loss and prolonged exposure to the sun, and porphyria is treated with a drug consisting of donor blood components – because of this, patients are often compared to vampires. Maria Stenik, who survived an acute porphyria attack less than a year ago, told us how it was.
I always knew that my mother died from some rare disease. I was five years old, I remember being taken to the hospital for Christmas, and in March there was a funeral. All three months she was in poor condition, and the doctors could do nothing to help her . We live in Svetlogorsk, this is a small resort town in the Kaliningrad region, so we treated my mother in Kaliningrad: first in a military hospital, then in a mental dispensary, then again in a hospital. She complained of severe pain – first in the abdomen, then in the whole body – but the tests were in order and nothing was palpable on palpation, so the doctors thought that she had mental problems. Then my mother underwent surgery to check if there were any pathologies in the bladder and ovaries, but nothing was found. As I now understand, surgery could have aggravated the situation: most drugs for anesthesia provoke seizures in these patients.
All this time, my mother had red urine, but the laboratory did not pay attention to this detail . And only a couple of months later, one doctor found out about this, remembered that he had read somewhere about such a symptom, and guessed that she had porphyria. It was already late: my mother was paralyzed and as a result, her heart simply could not stand it. She was thirty-six years old. As far as I know, that doctor then wrote a thesis based on her case.
Dad was very upset about this. After the funeral, it closed, and we hardly discussed my mother’s illness . For a long time I could not even remember the word “porphyria”. A year ago, I not only learned it, but also learned that this disease is transmitted from mother to child. When I was diagnosed with acute intermittent porphyria, I was twenty-eight years old. Less than a year later, I myself experienced the first attack.
About making a diagnosis
The first time I felt that something was wrong, at twenty-four years old. I gave birth to a son and became very irritable. Literally everything infuriated me, my acquaintances always asked why I was so unhappy. We are a husband to write off it on lack of sleep, and in the fact that we have a very active boy who needs a lot of attention. But my son grew up, and my condition did not change. Apathy was gradually added, I wanted to sleep all the time. I thought it was a hormonal imbalance, and decided to be examined. Everything was normal, except for the ALT (alanine aminotransferase – an enzyme that is found mainly in liver cells. – Ed. ) In the biochemical blood test – it turned out to be overestimated.
I found a good gastroenterologist, and we spent three months looking for the cause. The doctor knew that my mother was ill with porphyria, and in the end, finding no other explanation, sent me to Moscow, to the National Medical Research Center of Hematology of the Russian Ministry of Health. This is almost the only place in the country where you can get tested for porphyria. My husband insisted that I go to Moscow as soon as possible, and as a result, a couple of days later I was already carrying a jar of urine to the Hematology Center . The laboratory is asked to take the analysis in a container protected from light. Shortly before my trip, my dad said that he had watched an episode about porphyria in the program of Elena Malysheva. They said that if you put the urine of a person with this diagnosis in the sun, after a couple of hours it will turn red. I then laughed, but decided to try. The urine did darken, but there was no bright color . Already in Moscow, I learned that if acute porphyria is suspected, doctors measure the content of delta-aminolevulinic acid and porphobilinogens in urine. Apparently, these substances affect the color.
While I was walking around the city, I received an email from the laboratory with the results of the analysis. At zero porphobilinogens, I had 170 milligrams per liter. This meant that I also had porphyria. I started crying. It didn’t fit in my head like this: I’ve never even been in the hospital , except for the maternity hospital, and here it’s like that. I began to think about my mother. Growing up without her was always a huge pain, and I was scared to think that my own family could go through this. It turned out that if you come to the NMIC from the street, you can make an appointment only once a month, on a certain day. My husband used connections to get me to the doctor faster, and a day later I went to the department of orphan (rare. – Ed. ) Diseases for examination . There they made me an ultrasound again: “The signs of diffuse changes in the liver are closer to the type of cirrhosis.” But what this means, how it is connected with porphyria and, most importantly, how to treat it, the doctors did not know. I was told that since the disease is very rare and everything is individual for all patients, there are more questions than answers. According to statistics, most carriers of the abnormal gene never have seizures, so the doctors told me not to worry and retake the tests after a few months. I was included in the register of patients with rare diseases and sent home with a bunch of recommendations. An attack of porphyria can be triggered by stress, overload, diet and starvation. Therefore, I was advised not to overexert myself , consume more calories and especially carbohydrates. Most medications are also contraindicated for people with porphyria. There is a site on which I need to check every drug that I am going to drink: most often I hear the names of the pills that I can take for the first time, and I had to give up the usual things, such as for painful periods. Alcohol and sudden hormonal fluctuations also provoke porphyria . Most seizures in women occur shortly before or during menstruation, and pregnancy is also considered a risk factor. For ten days before menstruation I need to start taking glucose – I buy the liquid and drink for five ampoules per day. In general, glucose is the closest friend of a person with porphyria. She can put her on her feet even in neglected situations.
The only drug for porphyria registered in Russia is rare and expensive: a pack of four ampoules costs from 300 to 500 thousand rubles, but according to the law, patients should be given it free of charge. Usually it is prescribed for seizures, but I was offered to take the course preventively if ALT did not improve after three months .
About an attack
On a specialty I the economist, and the last few years to help his father with the family business. This seasonal work: we have three restaurants in Svetlogorsk, in the summer a lot of work, and in the winter we have to basically rest. Due to the coronavirus , there were few clients this year, so after returning from the hospital I had a lot of free time. We with the husband decided to go to Moscow to unwind. Before I was diagnosed, we had a discord, and I even thought about getting a divorce, but when I got to the doctor, he really supported me and the relationship strengthened. It was a happy trip: we rode scooters, walked a lot, visited an amusement park. I was tired, but I can’t say that it was critical. And on the eve of departure, I woke up at five in the morning from a sharp pain in the intestines. Then I learned that often an attack begins with loose stools. At first I thought that I just ate something wrong . On the way to the station we are with her husband quarreled because of some stupidity. It was a week before menstruation, and we have been joking at home for a long time that during PMS a demon wakes up in me.
As I later found out, porphyria affects the nervous system, because of this, people with the disease are more irritable, and premenstrual syndrome in women is very acute. On the train, my stomach ached constantly, and as soon as I was in Kaliningrad, my husband took me to the doctor. The gastroenterologist did an ultrasound scan and said that the intestines had nothing to do with it – most likely, I was having an attack. The pain intensified, and there was fog in my head. Everything that happened next, I remember mainly from the words of my husband.
I was lucky twice: firstly, a few days before the trip, just in case, I got tested for antibodies to coronavirus, so I was hospitalized quickly. Secondly, due to quarantine, the hematology department moved to the regional hospital in Kaliningrad – they have a very poor building, and the regional conditions are better. On Monday I was in the hospital and for the next five days I did not eat anything and hardly slept. The whole week I was not disconnected from the glucose drip . They poured in two and a half liters of solution a day, but the attack was so acute that it did not help. I constantly asked for painkillers, every three hours I was injected with the only approved drug, but it did not get any easier for a minute.
On Tuesday , pain in the whole body was added to the stomach : bones ached like hell. The nurses forbade me to get out of bed – as I later found out, doctors from Moscow scared them that I might have an epileptic seizure. At the same time, because of the pain, I simply could not lie down all the time and walked around the ward, rattling with a dropper. On the advice of one nurse, I found a body position in which it became a little easier: if you lie on your stomach and breathe frequently, the pain subsided for 5-10 minutes. At this time I passed out, but it was difficult to call it a dream. I vomited from the taste of glucose in my mouth. The doctor told my husband that I was stable, but morally completely devastated. I myself only remember how every day I asked my relatives when they would bring the medicine.
If the drug is not administered in time , paralysis occurs. After the attack, I read stories of other girls with porphyria, and almost all of them had to restore physical activity for months, because the doctors could not make the correct diagnosis for too long . In this regard, I was lucky again: knowing about my mother’s illness helped buy time.
About the fight for the medicine
While I writhed in pain, my husband and father were in touch with a Moscow doctor who treated me at the Hematology Center. I am very grateful to him, because no one in Kaliningrad knew anything about porphyria , and if it were not for his advice, I would have had much worse. On Monday, the Kaliningrad and Moscow doctors had a video conference. I was given ten days before paralysis, during which it was necessary to have time to find a drug. According to the law, the decision on the appointment of the drug is taken by a council of Moscow doctors. They analyze the symptoms and, if they believe that the patient needs medicine, they either issue a package from the reserve, or announce a tender for the purchase. I later learned from other patients that in the worst case, this process can take almost a month. By law, the drug must always be available, but due to the high cost and short shelf life, many hospitals refuse to purchase it in reserve.
The husband connected all his connections, and on Tuesday the drug was already in Kaliningrad. Due to the fact that we have an enclave, the next four days it was cleared through customs, and no one could speed up this process. On Friday, I was finally injected with the first ampoule – I remembered that it was a viscous liquid of marsh color. The doctor warned his Kaliningrad colleagues that the drug injures the veins, so it can only be injected under the collarbone. But they didn’t listen to him, and the first three injections were given to my right arm. Only when the hospital received a call from Moscow and yelled at the attending physician, they took me to the intensive care unit to put a catheter. The doctor got in on the second attempt, my neck swelled . I just walked away from the attack and immediately faced a new pain – I remember how I sobbed from impotence. In general, due to the fact that the doctors did not really know how to treat me, I did not feel safe and terribly nervous. I think it made the attack worse. In the end, after discharge from me in the arm blood clot, which is not absorbed until now, then.
A day after the first injection, the pain completely disappeared, only weakness remained. I began to eat a little and for the first time in a week asked my husband how my son was feeling . It seems to me that this fact best shows how out of my mind I was during the attack. After the fourth injection, I was discharged home.
About life after the hospital
When I first found out about the diagnosis, my dad sent me an article about Olga Pavlova, who also survived a seizure, and then founded the Russian Porphyria Association. There was a link to a closed group on the VKontakte network, where patients and their relatives – almost two hundred people from all over the country – are. I wrote my story on the wall and met two more girls from Kaliningrad. After the attack, my husband got the regional hospital to buy the necessary drug for the three of us. Now we know that if something happens, there should be no problem with the medicine .
The group communicates with people with different forms and different severity of porphyria. Someone a little if not every month suffering from mikropristupov – it can soothe the pain glucose. Some are still partially paralyzed. Reading their stories, I have to once again come to the thought that I was very lucky. First, I knew my diagnosis. Secondly, my family had the opportunity to help me with connections and money. Some take credit to get the medicine faster. When I think about it, I feel a little ashamed that I got through this easier than others. On the other hand, who said that I could not fight for my life in this way ?
After the attack, I was irritable and apathetic, I could not bring myself to do something. I just wanted to lie and flip through Instagram. Against this background, I had a long conversation with my dad. He set me up, said how important it is to be emotionally uplifted and not to be nervous about nonsense, to play sports, to have fun, to find what I love to do. He told how, at the beginning of the attack, he took my mother from the hospital, forced her to walk and it became a little easier for her. It seems to me that my dad does not yet understand that I am not nervous on purpose and that it is really difficult for me to control my emotions: porphyria affects the nervous system. In the group, many girls write that they are drinking antidepressants.
A month and a half after I was discharged, I again went to Moscow to be reexamined at the department of orphan diseases. Indicator porfobilinogenov again was 170 mg / l – the doctor said it was bad, and usually this happens in a time of attacks, but that with it to do, he does not know. In Moscow, I got nervous again: because of the coronavirus, they kept me in the hospital for a week just like that. I can not stay within four walls for a long time , so in the end I persuaded the doctors to let me go. As soon as I went outside, my stomach started to ache again. “ That’s it,” I thought and called my husband. Four hours later, he flew to me with his son. I understood that I just couldn’t go to the hospital right now . Because of a blood clot, I wo n’t even be able to inject glucose , and the body may simply not be able to withstand it. So I just told myself that this time I would pull myself together, tune in and suppress the attack myself. I drank 11 ampoules of glucose a day, signed up for a manicure, went with my husband and son to the zoo and to the rides. After a few days, the pain was gone. It was a victory.
So far I do not really understand how to live on. It scares me that no one really knows what to do with me, and even Moscow doctors do not know the answers to many questions. How many seizures will I have? Will I be able to survive them? What other health problems will porphyria cause? Okay, I can’t be overworked, but where is the limit of fatigue? I dream of going to the sea with a child – how to understand how many hours a day I can walk? I learned from the group that people with porphyria shouldn’t sunbathe, but I love it and don’t want to be pale. And you can do I do laser hair removal? K Unfortunately, the Russian doctors often tell people with serious diseases is something in the spirit of “rejoice that the living, and not ask stupid questions.” But I don’t want that – life goes on. A separate acute issue is the birth of children. I always dreamed that I would have two or three, but doctors say that the risk of transmitting the disease is very high. Therefore, we with the husband have decided that I have to have more is not going to.
For now, my immediate plans are to recover, calm my nerves and, if possible, help other girls with porphyria. And also to help my husband recover: I see how hard my attack was for him.