Living with such a disease is like walking with an armed bomb. You walk carefully, chances are that nothing will happen. But one inattentive step is enough, a change in the routine of the day, deviation from the diet and the attack comes. One by one your own hands and feet stop listening to you, until you can only lie down and cry out for help.
It often starts at night. Then 12-year-old Natalia feels her arms and legs shut off in turn. Her mom knows that if she hears a scream from her daughter’s bedroom at 3 am, Natalia is no longer able to move on her own and has to move her daughter from side to side.
– The attack begins gradually. If I give her a hand to squeeze at the beginning, she can still do that. He’s losing his strength slowly, then he can only squeeze a little bit. In a while, she will not even raise her hand – says Renata Bąk, Natalia’s mother. Paralysis occurs suddenly. – She goes to school in the morning and all is well. And in a while, a call to ask me to come pick up my daughter, because she can’t move from the chair anymore.
It usually takes an hour and a half from the first symptoms to complete paralysis. So far, Natalia has had about 40 attacks in her life. After eating something sweet or going on a bike. After running, unpleasant conversation with my friend. The dozen or so heaviest ended up being called an ambulance and hospitalized for several days. This happens when Natalia’s mother is unable to give her daughter enough potassium to stop the attack. Because it is the lack of this element that causes paralysis.
Mom, I can’t move
Periodic hypokalaemic paralysis, also known as hypokalaemic periodic palsy (HPP), is characterized by temporary paresis or paralysis with a marked drop in blood potassium levels. The symptoms of the disease are paroxysmal and occur most often at night or in the morning. They can last from a few hours to even 48 hours, and anything can trigger them: sudden temperature changes, stress, a meal high in carbohydrates or exercise. But not everyone and not always. Sometimes Natalia runs outside and she’s fine. But last November, her mother let her go to the school disco. The paralysis started at 5 a.m.
“I think I should be beaten for letting her go.” But I want her to function normally like other peers. I cannot take what is most beautiful in childhood from her. The heart breaks when it cries that it wants to go somewhere or go somewhere – says Renata. Her heart breaks even when Natalia’s brothers, 7 and 15 years old, both healthy, receive sweets. For Natalia’s body, carbohydrates are an attack-inducing poison, so she cannot afford more sweetness. And a long-term attack can be fatal. Because sometimes the paresis is mild and limited to one group of muscles, but there may also be generalized paralysis leading to respiratory failure and death.
– So far, Natalia and I landed in the hospital in Radom several times. When orally administered potassium preparations do not work and the attack is prolonged, and it can paralyze it for 7-8 hours, we call the emergency room, because then it is already dangerous for the heart (a diet that strengthens the heart). She is given a drip, stabilizes her potassium level and is released home after 2-3 days.
Natalia Bąk with her family. Photo family archive
Genetic error
Hypokalaemic periodic palsy is a rare and little known disease. To the extent that some patients are referred to … a psychiatrist who, for example, starts with a diagnosis of depression. One hundred percent confirmation of the diagnosis is a muscle biopsy, but to find it you need to be lucky and a doctor who suspects HPP. Natalia was not so lucky as it was an incriminating family history.
– My husband suffers from periodic paralysis from the age of 13 and is under constant neurological supervision. I knew it, saw his attacks. Sometimes it is enough for him to run to the bus, his paralysis “turns on” from stress, for example after an interview – says Renata.
They did not know that their husband’s illness was genetically determined, they did not suppose that one of their children would inherit it. The more that the neurologist assured them that there was no risk that their offspring would also be sick. The first and third time it worked. Natalia was not as lucky as her brothers, although at the beginning there was no sign of it. When she was born, she was a big, beautiful baby with 10 points on the APGAR scale. The first symptoms of the disease appeared when she was two years old.
– It started with diarrhea. Then I noticed that something was happening, the little one began to walk like a stork, so stiffly, raising her knees. I saw that stork walk on my husband’s side, I started to suspect that something was wrong. We went to the hospital, it turned out that the normal level of potassium was about 4,5 units, she was 2,7. It was the first paralysis.
The diagnosis was facilitated by a family interview. Natalia was under the constant care of a neurologist and her blood potassium level was regularly checked. But she waited … 6 years for an appointment at the Hospital for Muscle Diseases in Warsaw. Because these are the terms. The tests confirmed the diagnosis. Now, for five years, Natalia and her father have been waiting for the results of DNA tests, which were also carried out in Warsaw.
– We were told that it was a very expensive research and very difficult, So we are waiting what to do – Natalia’s mother shrugs.
The results will not really change anything, because there is no cure for HPP. Little is known about the disease itself except that it is inherited in an autosomal dominant fashion. During Natalia’s utero, there was a small error in her genetic matrix, something went wrong and her body has a disrupted ion channel function, leading to “secondary depolarization of the cell membrane and lack of muscle response to nervous stimulation.”
In human terms, when potassium levels drop due to various factors, muscles stop reading signals from the brain and refuse to cooperate. Treatment during the seizure is by oral administration of potassium, if the frequency of seizures increases, prophylactic treatment with diuramide is considered. Prophylaxis is preventing hypokalemia and avoiding factors that may trigger a seizure, e.g. hunger, exercise, beta adrenergic drugs, stress corticosteroids, high-carbohydrate meals. So normal life.
Looking for normality
A seizure can be triggered by other factors in everyone who is ill. Some people cannot drink coffee, others travel, and some have to take potassium several times a day, even in the middle of the night. Natalia’s dad reacts very badly to stress and exercise and physical. She has to be on a low-carbohydrate, low-sodium diet, which is really hard for a 12-year-old. To induce a paralysis attack, it is enough to eat a few pancakes, a piece of cake. One candy – maybe nothing will happen? Half a bar of chocolate – no way, an electrocution guaranteed. Paralysis can also be caused by fever, colds, diarrhea, vomiting – anything that flushes electrolytes out of the body. Being 12 years old and living like an ascetic is not easy.
– Natalia is rebelling. When it is fine, she forgets her illness. When an attack comes, he cries, why do I have it, because the brothers are healthy. It’s not easy for her. It’s good that there is understanding and support at school. When I wrote her down, I told the teachers right away, today everyone knows that she has such a strange disease that everything is fine, and suddenly she cannot move – says Natalia’s mother. Looking for help for her daughter, she set up her daughter Natalia’s profile on Facebook – periodic hypokalemic palsy. She hopes it will make it easier for her to connect with other people with HPP, if only to exchange experiences and find out how others are coping with the disease. Recently, a young boy who had been diagnosed just two weeks earlier came to her. She told him everything she knew herself, suggested what could trigger the seizure, and what he should avoid. He asks other patients to contact him. Because although you can’t beat HPP, it’s easier to live knowing that others are struggling with it too.