This article is dedicated to the memory of Aleksandr Batutenko, a person who was not afraid to declare publicly his rare disease. It was written by Aleksandr Batutenko’s wife Nadezhda, and it is published here with her permission.
Aleksandr was a brave young man who lost his life in December 2012 trying to clarify his diagnosis for the benefit of other periodic paralysis patients in the Ukraine.
The rarer is the disease of the patient, especially of the ones who live in the country, the less possibility that it will be diagnosed correctly. Despite the fact that some of these diseases not only worsen the quality of life but can also lead to death; despite the fact that they can be inherited. Just imagine the situation: the doctors one
by one consider the disease to be a mental disorder, although the patient is totally of sound mind. Unfortunately, in most cases such patients become withdrawn and avoid speaking about their disease even with their loved ones.
This article is dedicated to the memory of a person who was not afraid to search for people with the same problem and to raise a question about his ailment in the general public. It did not save him, though. Aleksandr Batutenko died at the beginning of December. He left two small children. His brother and sister also have children. And all of them might have the same horrid fate if Ukrainian neurologists do not learn about the disease.
“We had known each other since we were 14 years old,” writes his wife Nadezhda Kalinichenko. “I came to Lebediw from the Russian Federation with my parents, and spoke a lot with a subtenant who lived in Sasha’s flat. Sasha was a musician; he was always entertaining his friends. That’s how we met. He played almost all instruments: the accordion, the piano, the violin, the pipe. The rock group “Edelfeis” created by him and his friends was famous both within the region and beyond it.
Sasha worked as a carpenter. He did any carpenter work assigned to him. Sometimes he worked as a tree feller, although this job is connected with big physical loads. We got married in 2004. We were regular visitors of Nikolaevskii church. Later on when Pokrovskii church was restored, we started to go there and he sang in the church choir.
Before I married Sasha I knew that he was seriously ill and nobody could tell what he suffered from. Once every nine months he had a paralytic stroke. For three to four days he could not move but he could speak and was mentally completely alert. He could breathe although sometimes he experienced difficulties with breathing as well. He had had such strokes since he was 13 years old; all in all he had more than 30 of these strokes throughout his life. He was hospitalized a few times during such strokes and examined but usual examinations did not help discover the reason for the strokes. Except during the paralytic strokes everything was normal. That is why later he refused to be hospitalized. From one side, doctors did not know how to cure him, from the other it was easier to look after him at home. Doctors considered his disease as a mental one but we were sure that was not correct. The strokes were very predicatable till 28 years. We knew what was going to happen almost hour by hour.
“I think I started to get ill in the early childhood, long before the first paroxysm which happened when I was 13,” wrote Aleksandr on the Internet searching for people with the same symptoms. “Once I noticed pain in the calves when I was learning to ride a bike. I was only 4 at that time. All of a sudden I felt pain. The pain was in the muscles which are used for biking. It kept increasing and in an hour or two the muscles were seized with awful pain even when I was trying to make any movement. It was unbearably painful to move even my fingers. Due to incompetence and maybe unawareness my parents did not pay attention to what had happened and started to “treat” me with a blue lamp, an instrument that was an essential constituent of a medicine box in any family at that time. I was “warmed” like that for a day or two till the pain stopped by itself. Since that time I was afraid to bike for long or to confess to my parents that my hands and legs hurt. Sometimes spine, neck muscles, collar zone muscles, clavicular muscles hurt. But I did not feel the paresthesias or “the feeling of pins and needles” in arms and legs unless I had a paroxysm.
In the summer in our country house after waking up I found out that I could not move my limbs or lift my head, although I felt them. It was a very terrifying feeling. As if my muscle tone had disappeared. My muscles did not obey me but at the same time I could feel everything: cold, pain, warmth, touches. Being terrified I called for help. I did it without any problems: the voice did not change.
My parents were very upset about the situation and thought it was because I had been frightened by something. They kept suggesting this to all the doctors who examined me. As a result I was given an official diagnosis of a psychiatric disorder instead of neurological disturbance. The doctors thought I had hysteria, an obsessive-compulsive personality disorder and none of them wanted to change the diagnosis. Neurologist and psychiatrist asserted that the problem should disappear itself with age. But it did not happen. The paralytic strokes kept happening, sometimes more often, sometimes less. From 2005 till 2012 I was officially followed up by a psychiatrist. But I refused his services because I did not receive any qualified help or examination. True, he suggested making additional examination to confirm the diagnosis “schizophrenia”, but I refused.
During paralysis strokes my brother saved my life twice. He noticed at the 11th hour that my face was buried in the pillow and I could not lift it independently to breathe freely. Sometimes my stomach stopped working and on the third day of paralysis I started vomiting. My lungs stopped working; I was suffocating because of mucus that had accumulated in them. My family helped me to cough up the mucus by pressing on my chest with their hands.
It is complicated to describe this state. The worst is the third day when the body is totally exhausted and dehydrated. Bedsores are burning so much that I cannot lie calmly. Those taking care of me find it hard because I keep asking to be turned over every minute. The paralysis usually goes away within three days to the hour. The ability to contract the muscles of legs and arms returns at the same time and soon I can walk although with great difficulties. The whole body hurts as if it has been beaten and broken apart. But all of that appears unimportant because I am able to move again!”
Each time Sasha relearned everything from the very beginning, writes Nadezhda. To walk, to move, to do some work. At the same time during the strokes he did not lose sensitivity. He felt warmth, cold, touches and pain. We got children. Sasha loved them very much. We did not stop trying to find out what his disease was. Finally in 2006 we knew the biggest part of his diagnosis. A famous neuropathologist from Sumy, Leonid Rostislavovich Betterlikh examined him and made the correct diagnosis. It turned out that Sasha had paroxysmal myoplegia or familial paralysis. It is an inherited disease.
“When I came back from the hospital I immediately started to ask in detail about my relatives,” writes Aleksandr. “And for the first time in my life I learned that my mum had an aunt, born in 1933, who led an unsociable way of life. She did not let anyone close to her, she did not want to speak to anyone and she had “some problems with legs”. She was unfriendly but met with us and agreed to listen to us. As soon as she heard that I have had paralytic strokes from 13 years, she told us about her problem.
She was also ill from 13 years old. Once she woke up in the morning and could not get up from the bed. She could not move anything at all. Their cow had just dropped a calf at that time and she wanted to see it very much. But she spent a month and a half in the bed with weakness of her muscles which improved very gradually. Afterwards she felt totally broken. These strokes kept repeating, usually in cold weather. Sometimes she could not even put on her clothes or comb her hair. She asked her family members to help her but they thought that she was a little bit mentally unbalanced.
When she was young, the disease caused her an especially difficult time. The weakness usually lasted a month or even longer. She studied in the Western Ukraine. The doctors there made diagnosis “chorea”. The strokes continued when she started to work. She came back to our city in 1982 and local doctors arrived at a new diagnosis of “rheumatoid state”. The paralysis strokes kept happening in Lebediw as well where she worked as a stock manager. She travelled as a tourist to Odessa. There she felt somehow better and regained strength. But now she has great troubles while walking. She suffers from heart problems (doctors call it “pre-heart failure”), and hard deposits in the legs and backbone.”
We thought because of her history maybe the state of Aleksandr would get better with time too. But at that time each stroke could lead to death and was making life complicated:
“The strokes prevented me from my favorite occupation. Because of the disease I am not able to drive as I cannot be fully sure that there won’t be an attack while I am driving. I have only one day off in a week and I have to spend it sitting, or sometimes even lying in the bed waiting for muscle tone to return. It was hard to explain my condition at work and management was creating difficult conditions so that I would quit the job myself… This is the reason why I was extremely motivated to find out how to prevent the strokes and ideally to cure them. The difficulty is in the following: paroxysmal myoplegia (familial paralysis) can be of three types. It depends on the quantity of potassium in the blood.”
It was necessary to make analysis of blood exactly at the time of a stroke, writes Nadezhda. Finding the proper treatment depended on these results. In the normal state the potassium results were absolutely normal. In one form of familial paralysis the level of potassium in the blood is low and medicine with potassium is given to treat the stroke. But in another form the level of potassium is high. To prescribe medicine containing potassium if a person has a high level already means to kill him. But Leonid Rostislawowich prescribed Sasha a drug which is used in all forms of the disease. It helped Sasha a lot. The next four years there were no paralysis strokes although sometimes he still felt bad.
All this time Sasha was trying to find people who had the same health problem. In order to make the disease known not only for single doctors but also for all neuropathologists it was necessary to prove that such cases are not unique in Ukraine. This would allow organizing seminars on official level and open specialized clinics. Both Sasha and his brother and sister have children, who might have the same problem in prepubescent years. It was important to find a way to get a DNA test to identify the mutated gene and to determine if our children have it too. And if they had to start their treatment to prevent having the paralytic strokes.
In Ukraine, a country where only few people know about the disease, such tests are not made. But we managed to contact Periodic Paralysis International and to register there. The registration in this association and the official diagnosis “myoplegia” made by a neuropathologist are necessary conditions for the DNA-test in Germany. German professor Frank Lemann-Horn does it free of charge.
Aleksandr wrote, “The analysis is quite complicated. Till now the doctor has singled out 50 genetic mutations which lead to periodic paralysis. It is known for sure that if your mutation has been identified before then you can expect your results within a year. But if you have a rare mutation which has not been discovered yet, you might wait even longer. But it does not mean that the examination won’t be carried out and you will be forgotten. The doctor himself is interested to find new unknown mutations. There was a case when the result was ready only in 9 years! But according to statistics 60-65% of Europeans receive their results within a year, some of them within three months.
It is also worth mentioning that the mechanism of sending the serum from the territory of Russian Federation to Germany is not easy. It is connected with the official prohibition to send out biological samples and blood components outside the country. The only way to send your DNA is to receive the permission from the Ministry of Health, and then to deliver it by the international courier. Serum cannot be sent in such a way as it has to be delivered within 24 hours. DNA is more stable. That is why before sending it has to be singled out from the blood (from lymphocytes of peripheral blood). That is what I have done. Although Ukraine does not prohibit to send outside the country biomaterials and blood components, courier FedEx does not guarantee delivery within 24 hours. It took them 3 days to deliver my DNA to Ulm. After the sample arrives, secretary of doctor Lemann-Horn sends confirmation via e-mail.”
“We sent the DNA around half a year ago,” writes Nadezhda. “We received confirmation of the delivery and are still waiting for the result. Sasha felt that it should have been done fast. During the last year we have met another famous neuropathologist in Sumy and although he has a private clinic, he got interested in Sasha’s disease and examined him for free. We have agreed with him to do the necessary tests during the stroke. Sasha provoked a paralytic stroke artificially, by not taking his medicine. The stroke started on the first of December. It developed unusually fast. Sasha was fully paralyzed within an hour.
We took him to Sumy in the morning and had the necessary analysis done. It had to be ready on Monday, on the 3rd of December. But when we came back home, his lungs started to stop working and he could not breathe independently. We took him to the hospital where he received oxygen. They tried to give him his usual medicine but the stomach was not working and everything was coming back. And on Sunday he was gone.
But all the groups in social networks which he has created are active. They contain all the information about this disease, its symptoms, and procedures necessary for sending the DNA for testing and so on. He managed to find a few people who suffer from the same disease in Ukraine and in Russia. We hope that in the near future doctors will appear who will get interested in this disease, will visit the seminar of the Periodic Paralysis Association and will be their representative in Ukraine. It would allow not only to spread the information about familial paralysis among patients and doctors, its symptoms and treatment, but also to raise awareness about the disease on the official level.
And probably then people who are ashamed of their “psychiatric” disease would receive correct diagnosis and treatment. All the more so as this disease disables people. Aleksandr created a group in Facebook called “Hypokalemic Periodic Paralysis Net”, in Vkontakte “Пароксизмальная Миоплегия или Periodic Paralysis”. The pages of these groups contain all the information collected about this disease.
Note: We learned some months after Sasha’s death that, because he was experiencing respiratory embarrassment, and presumably believing this was due to anxiety, the attending physician anaesthetized him and kept him unconscious for several hours, resulting in his death from respiratory and cardiac collapse.
reviewed 30 Sept 2020