An attack can do anything. The touch of water in the bathtub, the sight of a running dog, the joy of a new toy, the fear caused by the bell at the door. Then the children’s bodies twist as if they were puppets, the strings of which are pulled by an evil witch, eyes dart, saliva drips from the mouth. This may take five minutes or two weeks. AHC, like a witch from a fairy tale, casts a spell on children still in the cradle. Only there is no medicine that can lift their evil spell and ease their suffering.
The hardest thing for Dorota Glazer, we have a 2,5-year-old Wiktor, is remembering the promise she made to her son when he was a few months old.
– We didn’t have a diagnosis yet, I was holding him in my arms and his muscles twisted so badly, he cried a lot. My tears fell and I promised: Mommy will help you, I will turn everything upside down and find out what’s wrong with you, I will help you. The worst thing was when I found out that he had AHC and that it was an incurable disease and there was no cure for it. I can’t do anything for him.
AHC (Alternating Hemiplegia of Childhood) is one of the rarest genetic diseases. It is estimated to happen once in a million births. Most doctors have not heard of it, so it’s no wonder that children with AHC wait years for a proper diagnosis. There are over a dozen known cases of childhood hemiplegia in Poland, but it is estimated that there are three or four times more. Most patients are initially misdiagnosed with drug-resistant epilepsy or cerebral palsy.
A short circuit in the brain
– I didn’t like Wiktor’s physical development from the beginning. He was born with varus toes, in the fourth week of life he was put on corrective casts and doctors said that it made him less mobile – says Dorota. She was also disturbed by the position in which Wiktor fell asleep – curved back into a crescent, as if he were making a bridge. The orthopedist downplayed the matter, saying that it should be so, that it was the fetal position of the child.
Wiktor with his mother and sister. Photo family archive.
The first attack appeared in books when Wiktor was 4 months old. – It usually starts then. He was paralyzed and had three seizures in succession, very exhausting the body. At the emergency room, the doctor tried to convince us that it was hydrocephalus, although there were no symptoms. The next attacks came a couple of weeks later.
– At 6-7 months of age, he already had them regularly. The doctor said that I was making up that the baby was fine, because when Wiktor is not having a seizure, he looks completely normal. We thought it might be a kind of epilepsy, but there the seizures are short-lived. Wiktor could have a seizure that lasted several weeks, only for sleep.
By definition, hemiplegia manifests itself with episodes of hemiplegia, ranging from mild weakness to complete paralysis. In practice, it looks as if Wiktor’s body was twisted by some invisible force. The paresis may affect one side, one hand or a leg, or the entire body. The esophagus and speech are paralyzed, as well as continuous profuse drooling which, in combination with the laxity of the larynx, may cause choking. In severe attacks, the muscles tighten so much that you can hear the joints creak, the child’s body arches, the eyes run away, squint. At the same time, he is always aware and feels everything that is happening to him. No painkillers help, the hurricane in Wiktor’s nervous system only subsides when the boy falls asleep. When he wakes up, he can move his arms and legs normally for a few minutes, then the attack returns. The longest was a month.
– The stronger the attack, the more it tires him out, the more he is weakened, the longer it is calm. The longest time without an attack is a week. Then it is enough for him to be upset by something, whether he will be pleased or the weather will change – says Wiktor’s mother. – When he was a baby we had a terrible problem with bathing. The attack started right away, it looked as if the water was burning him. Now we are bathing him in a large bathtub and sometimes his handle or leg turns off, but he does not react so strongly. We are slowly getting Victor used to new stimuli, because an attack can trigger literally anything. Going out in the sun in summer, frosty wind in winter, seeing a kitten, every emotion, positive or negative. Anything that stimulates the nervous system.
AHCs cause mutations de novo in the ATP1A3 gene. This is called new mutations, meaning that in earlier generations, the disease was not present in the family (but if AHC has a parent, the risk of his child having AHC is as high as 75%). The mutations reduce the activity of ATPase, the enzyme responsible for the transport of sodium and potassium ions through the cell membrane of neurons. These ions are essential for the proper functioning of the brain. Without them, there is a kind of short circuit in the child’s nervous system. Apart from specialist genetic testing, there is no other possibility to confirm the diagnosis based on clinical symptoms.
the great unknown
– AHC does not have any diagnostic tests so far. The diagnosis process is based on clinical trials, differential diagnosis and the exclusion of diseases that have well-developed diagnostic tests. There are diagnostic criteria for AHC that most doctors do not know, and therefore they often try to tell parents things, most often epilepsy. It is critical if the doctor says that the child is fine, only the mother is oversensitive and sends her to a psychiatrist, for example. Such a case took place in a reputable hospital – says Marek Parowicz, vice-president of the Polish Association for People from AHC, which was established in 2013.
Mark’s daughter suffers from AHC and was correctly diagnosed 15 years after the first attack. To spare other families the drama of life with a misdiagnosis and poor treatment, Marek and his wife decided to found an association and spread the knowledge about AHC. – In Germany, we came across a meeting of families affected by this disease. They opened our eyes to many things. We did not find the information obtained there in the sparse professional literature, the doctors did not provide it to us. We were convinced that our daughter is the only child with this disease in Poland. For several years we have been looking for people with a similar problem. It wasn’t until 2008 that we got to the first family.
Today there are 11 families in the Association. They have met twice so far, are in contact with each other, exchange experiences, information about children’s development, physiotherapy, etc.
– We invite pediatric neurologists and geneticists, educators and psychologists to the meetings. The problem of disease and disability affects not only the patient, usually the whole family needs psychological support – says Marek.
– We follow the developments in the country on an ongoing basis, and for parents suspecting AHC in their children, we can offer consultations with several specialists. We hope that a reference center for our disease will finally be established under the National Plan for Rare Diseases and that patients with suspected AHC will be referred there, and doctors will be able to receive information and guidance. But that’s the future for now.
Wiktor’s mother, who was diagnosed after thorough research and a stay at the children’s neurology department in Bydgoszcz, also joined the association. More than six months passed from the first attack to the diagnosis, but it’s like AHC and so quickly. Monika Filipeschi from Italy is the patient who has lived the longest without a proper diagnosis. She was diagnosed with alternating hemiplegia when she was 35 years old.
Tame the disease
For Wiktor’s mother, the most difficult thing in life with AHC is that you never know what the consequences of the next attack will be: – It can cause such damage to the body that any hard-earned skill will be lost. Wiktor was already standing in the crib and saying mum, dad. And then he had a bilateral attack, and there was only m, the first phone itself. It took three months before he began to pronounce the words again.
Children with AHC develop more slowly, with more difficulty. Each new skill takes them a lot more effort to learn than their healthy peers.
– During rehabilitation, we developed a seat. Now Wiktor is starting to learn to walk, for now he stops and goes around the house by the furniture. He communicates with us, determines his needs – when there is no attack, he is a normal, cool, very cheerful child. Other children love him because he always laughs and plays with his sister and cousins. We taught him not to get angry when his hand or leg suddenly turns off while playing. He still doesn’t like it, but he’s gotten used to it that way.
Wiktor’s mother says that caring for a child from AHC is like learning to climb: – We have to do everything gradually, introduce new stimuli slowly. As if he were over the precipice, if we push him too hard, it will fall, but it can slowly cross it.
The worst part is the feeling of helplessness. When Wiktor has a seizure, nothing can help him because he does not respond to flunaricin or diazepam, which can soothe seizures in some patients. Painkillers do not work, and there are no other medications. Due to the fact that hemiplegia is such an extremely rare disease, it is not of interest to large pharmaceutical companies that conduct research on new drugs. The AHC Association for People, however, is tracking research progress around the world.
– AHC’s very good medical and research centers include in Italy, France and Spain. In the US, at Duke University in Durham, there is the AHC Clinic, headed by one of the most distinguished researchers of the disease, Professor Mikati, says the vice president of the Association. –As only in January 2012, the main gene ATP1A3, which carries the AHC mutations, was discovered, research is now in its infancy. As of today, the disease is incurable and there is no viable pharmacotherapy. But, since patient organizations from different countries fund the lion’s share of the research themselves, we believe we’ll see the results very soon. Parents of AHC children only have to wait. And count all the days without an attack.
– You can’t fight this disease, you can’t hate it because we would burn out. He is part of Wiktor, part of our home. We have to come to terms with her, we cannot regret forever, because we will be unhappy – says Dorota. – The coolest thing is when Wiktor acquires a new skill, learns a new function. It is harder for him than for other children, but when he does, these are the most beautiful moments. You see your child wring up the disease, and then it passes, it plays normally, it enjoys, it is a break in this disease, a bit of normality that gives strength. Sure, sometimes it is very difficult when there are severe paresis. But Wiktor has so much fun that he can pay back for a whole sleepless night with one smile.
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