Polymicrogyria is a developmental defect of the cerebral cortex which manifests itself differently in each patient. A genetic disease that is a mystery to the doctors themselves.
Children with polymicrogyria are born with an altered structure of the brain, which is vividly explained by the Polish name of the disease, fine twisting of the cerebral cortex. It’s a bit as if they have an excess of pleats, pleats and frills in their heads, which paralyzes the work of various nerve centers – too wrinkled bark causes brain damage. Depending on which part is the most, cognitive and motor functions may be impaired, epilepsy, spasticity, strabismus, convulsions, mental retardation may appear. Symptoms also include arthrogryposis, hereditary joint stiffness, deformity of the feet, problems with speech and swallowing. Polymicrogyria is almost impossible to diagnose in utero and difficult to detect also afterwards. It can take various forms and the severity of symptoms. It happens that its only symptom is problems with concentration, and the American literature describes cases of children with this brain defect who did not develop any disturbing dysfunctions. Ewa Raban was not so lucky.
A completely different story
When she was born, her parents were soon after getting married and buying a flat in Ząbki near Warsaw. They thought that they would live happily ever after with their long-awaited daughter. – Our life was supposed to be like in a fairy tale. And it turned out that there is no fairy tale – says 28-year-old Kasia, Ewa’s mother. There was a worried ultrasound gynecologist who sent them to a specialist in fetal defects. It was then that they heard the first diagnosis, which meant that their lives were going to be different than they had planned.
The gynecologist was worried about the expansion of the ventricles in the baby’s brain, signaling hydrocephalus. The specialist decided that the problem was also the position of the child and the appearance of his body. The baby was also predicted to have arthritis, a syndrome characterized by stiff joints.
Doctors prepared them that the daughter would be taken to the operating room immediately from the delivery room, where she would undergo a valve insertion in the brain due to suspected hydrocephalus. It turned out, however, that it is not the biggest problem at all.
– The chambers in Ewa’s brain stopped growing, no more fluid. And because she was born with hypoxia, respiratory failure, broken femurs, bilateral hip dislocations, clubfoots, and contractures in all joints, the doctors concluded that since the pressure in the brain was not rising, they would start treating the fractures first.
Later it turns out that the valve is not necessary, because Ewa does not have hydrocephalus, only a specific structure of the brain. But it was necessary to heal the legs – or so it seemed.
– On the ultrasound it was evident that Eve always sits cross-legged in my stomach and is as extreme as the Buddha. She didn’t lie upside down in the birth canal, she always sat on her feet like that. Therefore, the delivery was earlier, in the 37th week, by caesarean section, the doctors were afraid that Ewa would not survive this situation.
Some babies suffering from arthritis after birth are as stiff as boards, and their diseased joints do not allow them the slightest movement. Ewa was more fortunate, although she suffered from paresis of the legs and could not eat normally due to the stiffness of the jaw, other joints were more or less active. Only the hips refused to cooperate. She wore the so-called Koszla’s stay, which enabled the correct alignment of the femurs against the acetabulum, she spent three weeks on the lift and seven in a plaster cast. And no results.
– It was only Dr. Kowalczyk, an orthopedist from the Children’s University Hospital in Krakow, who told us that Ewa’s hips were dislocated too high and that these procedures were doomed to failure. There are children who walk with such hips, not like ballerinas, but who move. Maybe Ewa will also succeed?
Leg problems were relegated to the background last summer, because Ewa suffered from epilepsy. They had the character of the so-called flexion, from 5 to 10 seizures a day for up to 50 bends. At the Department of Neurology of the Institute of Mother and Child in Warsaw, her parents heard a second, painful diagnosis.
A casket with a secret
West syndrome is infantile epileptic encephalopathy with hypsarrhythmia, which is epilepsy with the appearance of a bending of the body and / or drawing of the legs to the abdomen, or of the head to the chest. It is distinguished by three features: flexion seizures, inhibition of psychomotor development and hypsarrhythmic EEG. They all appeared at Ewa. The seizures were accompanied by discharge of the hands, drooling and nystagmus. When the girl underwent the routine MRI in the case of seizures, the third and worst diagnosis was made.
– Minor twisting of the cerebral cortex in both parts of the frontal and temporal lobes. This defect, known as polymicrogyria, occurs in 1 in 100 live births, we are told. And it just happened to our child.
Eve’s parents learned that West’s Syndrome and arthriposis may be derivatives of polymicrogyria and the changes in the brain it causes. And that there is no cure for it. No surgery in the world can repair the damage to their daughter’s brain.
“It’s a genetic disease, but no one can tell if it’s inherited, why a gene – and which?” – has been modified. The geneticist said directly that in Poland no one is doing research in this area. We can ship samples to the States ourselves, but the entire genome has to be examined. It is terribly expensive and the treatment is not influenced, so we decided it was pointless.
It is also unknown what the prognosis is, because each child has a different cerebral cortex, so different brain centers may be paralyzed.
– I managed to locate three other children with small twists and turns in Poland, I am in touch with one mother on a regular basis. But not even how to help each other – each child has completely different damage, we cannot predict that it will develop this way, so it will also be like this in Ewa.
Ewa is 2 years old and at the stage of development of an 8-9-month-old child. He still has paresis of his legs, he has been sitting for a short time, still supporting himself – he has very flaccid back muscles, and working out each new movement means hours of rehabilitation and exercises. She also has neurological strabismus and is being prepared for corrective surgery.
– We hope that after the procedure it will be easier for her to use toys, because you can see that she really wants to have fun, but not always can.
The girl does not speak, makes sounds that sound like syllables, but they mean nothing.
– She cannot communicate, but when she is unhappy, she says “ma-ma, ma-ma”. And then you don’t know whether to laugh that you communicate or cry that something is wrong … But you can see that she likes people, she enjoys being spoken to. He is unable to follow orders, but more and more often we think he understands, but does not know how to react. At least we hope so.
Eve is like a closed casket with a secret inside. Doctors cannot tell how many of her problems are due to brain damage and how many are due to arthritis.
– She craves new impressions and stimuli very much, therapists say that it is a very good sign that she wants more, only her body does not allow her. We work hard in speech therapy with her, because the mouth is extremely flaccid and the speech apparatus is unprepared to speak. Maybe he doesn’t speak because he can’t physically, and not because he has damage to his brain? She’s too small to say that, so right now we’re really struggling to get that mouth turned on.
Miracles happen
Parents take Ewa for rehabilitation reimbursed by the National Health Fund and the one they pay for themselves. They work with her at home, take her to her favorite aquatherapy. Kasia, a political scientist and criminologist by education, quit her job to look after her daughter. Ewa’s dad is a firefighter, he has two days off for one day of service, then he can relieve his wife in taking care of the child. They do not lose hope that one day their daughter will say the first word or even take her first steps. Because miracles happen – Ewa has managed to control epileptic seizures, although West’s syndrome is known for drug resistance. Doctors gave her synacthen, a very powerful steroid that puts a lot of strain on the body, which acted like a magic wand.
– To everyone’s surprise, Ewa reacted, the seizures stopped after the second injection. He takes it once every 31 days. And it has no side effects. He is to take it for another six months. And then we’ll see. I think that doctors do not know themselves, they experiment because they have no experience with polymicrogyria.
Ewa’s parents are also experimenting. They work at home with their daughter in speech therapy using the Krakow method, try to take part in rehabilitation camps with her every 3 months, during which she undergoes intensive rehabilitation and stimulation for several hours a day. They benefit from the support of the Foundation for Children “Help on Time”, and Ewa’s mother started a blog www.balaganewy.pl, where she describes her struggles with her daughter’s disease and publishes therapeutic fairy tales that she writes for her daughter. Although the posts posted there are warm and optimistic, Kasia admits that there are bad days for her.
– I am a pessimist by nature, fortunately my husband has more sense and is at home a peace of mind. Thanks to him, we survived the worst moment of childbirth, when we did not know if Ewa would survive. After that, basically every day showed us that it was better than we thought it could be. Sure, when I listen to my girlfriends telling me that their kids said “mom”, I feel such a scare that my daughter may never say that to me. But then I realize that doesn’t mean happiness. We have to determine our own happiness in life and we have probably learned to be happy with our child’s disability. .
Ewa’s parents are happy with each new skill acquired by their daughter, although they have to work very hard at it.
– But we have divine rehabilitators. Our neighbors are also wonderful, they do not limit their children’s contact with Ewa, sometimes we have pilgrimages of little ones who come to her because they know that she likes them very much. We have a lot of family support and a group of great friends with whom we plan a vacation trip. There is no problem for them that Ewa has to be carried everywhere in a pram, that she has problems with eating and will somehow make their vacation difficult. We are probably very lucky with people.
Kasia knows that not all parents of disabled children have that.
– I know that some people find it difficult to go out to people and I wish them to find a friend or friend, someone with whom to drink wine, watch a movie, talk and forget for an hour that there is a mammal or other medical equipment waiting for us somewhere that we have to handle so that our child lives and does not get sick. Because it helps a lot.