- The whole world collapses like a house of cards
- Organism like a garbage can
- Live silver that crashed
- Człapie, a bit like a duck
- Moving to Germany
- Little things that make you happy
- The trouble is divided in two
- Lest it get worse
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- There was a time when I felt like I had lost my life. There was nothing else I could do, Cuba was getting weaker every week and we were kept waiting for the drug to be available. An experimental drug that has not yet been on the market, but we already knew that it helps, says Małgorzata Skweres-Kuchta. Her son struggles with CLN2, also known as "childhood dementia". This incurable disease leads to complete disability, loss of basic functions, and eventually … death within a few years.
Although today CLN2, or Neural Type 2 Ceroidolipofuscinosis, for Kuba's mum is a not-so-strange name as it was a few years ago, it is still the name of the monster with which her 9-year-old son is struggling very unevenly.
- Colloquially it is called "childhood dementia", and it is not associated with the beginning of life, when there is still everything ahead of you, a lot to experience and taste - says Mrs. Małgorzata.
She also makes no secret of the fact that this name is associated mainly with cruelty.
The whole world collapses like a house of cards
- You have a fantastic child, full of energy, he learns, develops and at some point, it is not known for what reason, the skills he has acquired so far, one by one, at an alarmingly fast pace. It usually begins with a sudden attack of epilepsy, within a few months there are problems with walking, uncontrolled falls, and the puzzles from your favorite puzzles are no longer fun, your child does not understand what is going on, you too … - he says.
He adds that when the diagnosis finally appears, the whole world collapses like a house of cards. This is not the diagnosis you wanted …
- This is also the moment when the disease rushes like crazy. At the age of 5, the child cannot walk, he loses his eyesight, the last time you hear the word "mama". A few months later, problems with swallowing necessitate a gastrostomy. Seizures of epilepsy get worse, myoclonus jerks, dystonias twist… so hard it just hurts a lot. There comes a time when you don't even hear the cry, because the disease also takes this skill away. But it does not perceive pain. Only the parents "read" this pain. - he says.
Jakub started treatment just before his 7th birthday. After two years of therapy, his condition is stable. He admits that the sooner the therapy is started, the better the chances for a normal onelife.
- You know that your child's 10th birthday may be the last one because that is the average survival time for children who suffer from this condition. In Cuba, the disease has already caused great havoc, it is completely dependent, but has not had time to enter the cruelest phase - emphasizes Małgorzata.
Organism like a garbage can
CLN2 is a neurodegenerative disease. What does this mean?
- The structures of the central nervous system are damaged. When a properly developing child increases its cognitive abilities and its brain develops with age, in children who suffer from this condition, nerve cells begin to atrophy, become ill, die, the brain retreats, and thus the child is deprived of the skills and functions that have been developed so far - explains prof. Maria Mazurkiewicz-Bełdzińska, head of the Department of Developmental Neurology, Medical University of Gdańsk.
He emphasizes thatBatten's disease , as CLN2 is also called, is a metabolic disease.
- It is based on the fact that the child's body does not produce an enzyme that removes unnecessary fatty and protein deposits from it. Their excess makes the human body a kind of garbage, and what has not been removed from it begins to wreak havoc on the nervous system. It kills subsequent neurons, and thus turns off subsequent abilities and functions - explains Prof. Mauzrkiewicz-Bełdzińska.
He adds that disease progression depends not only on the level of this unproduced enzyme, but also on the rate of waste formation and disposal.
Live silver that crashed
In Cuba, the first symptom was also an epilepsy. He got it the day before his third birthday. It was November 2013.
Małgorzata admits that it was not an ordinary attack. It lasted nearly 30 minutes, ended up vomiting.
- Only now, when I am putting together these life puzzles in my head, I can say that some disturbing symptoms appeared earlier. We explained them then with the fact that not every child has to develop in terms of books at every stage of his life. Cuba was real silver, which suddenly got a little stuck in this development - he says.
He didn't always hear what his mother was saying to him, and he didn't have as many new words appearing in his vocabulary as before. The large blue eyes that were characteristic of the boy acted as if he saw the image not in front of him but from the side. - I thought it was simply a visual defect, but the examination did not confirm anything disturbing - he recalls.
When it first appearedepilepsy attack, doctors ordered to wait for the development of events.
- The first attack doesn't have to mean anything. The process of selecting medications, especially in such young children, is ongoing. The attacks were repeated, they were more and more frequent, but despite this, Cuba made considerable progress in the development during the first year of the disease. Slowly, however, dysfunctions in his motor skills appeared. He did not walk but "shuffled", he was afraid to go up the stairs, his hands were less fit, he happened to fall suddenly, as if his body was losing its balance and stability for a moment - describes Małgorzata.
She remembers that at that time she was most vulnerable to helplessness. Although he admits that she tried to be patient and humble in the face of subsequent diagnoses, conflicting information about his son's ailments caused more and more nervousness and anxiety.
- It was still unknown what Kuba was suffering from - he says.
She was looking for information on her own. She came across a blog run by the mother of a girl who was struggling with Batten's disease.
- In her photos I saw many similarities to the state of my Cuba. However, my mother wrote about changes in the resonance of the head that are characteristic of CLN2. In Cuba they were not visible then. It confused both me and the doctors - he recalls.
Człapie, a bit like a duck
The boy's parents were led to the trail of metabolic disease by a doctor who examined his hearing. - She pointed out that Kuba puts his feet on a wide base, shuffling, a bit like a duck. Previously, he ran freely - remembers Mrs. Małgorzata.
Finally, Cuba was diagnosed when the boy was 4 years and 4 months old. - According to the doctors, his condition was still quite good. He ran, arranged his favorite puzzles, spoke clearly. The biggest problem was his uncontrolled falls - says Małgorzata.
It was March 2015. Five months later, Kuba was no longer able to walk on his own, he could not hold a spoon steadily in his handle. When he was 5, he stopped speaking, could see poorly and could not stay upright. - He cried terribly, woke up at night, had problems falling asleep - recalls Mrs. Małgorzata.
It turned out that instead of helping him, one of the anti-epileptic drugs was poisoning the body. For five weeks, Kuba was in the ICU. Muscle tension caused a 40-degree fever, his pulse did not fall below 180, and his body, as Małgorzata recalls, was "bent like a banana".
The doctors did not know what was going on and how to help the boy. They put him in a coma to let the body rest a little. Doctors from Hamburg came to the rescue. It was they who, on the basis of two similar cases, came to the conclusion thatthe reason for this state of affairs in Cuba is the epilepsy drug.
- I decided to immediately discontinue the drug against the will of the doctors who treated us in Poland. On your own responsibility. It was a good decision - he says.
Prof. Mazurkiewicz-Bełdzińska confirms that the main symptoms of the disease are epileptic seizures, suspension, retardation in intellectual development, problems with speech and motor skills, including walking.
- The next ones are also muscle spasms, visual impairment. Each subsequent year from the moment of diagnosis makes the child feel more and more physical suffering, his independence fades and the dependence on the caregivers increases. After all, a child requires constant 24-hour care, and this excludes one of the parents from professional activity - she says.
points out that CLN2 is not a curable disease, and in Poland, the diagnosis of this disease gives little room for maneuver. One dose of the drug costs about 25,000 euros, and patients need two a month.
- Treatment that may h alt the progression of the disease is not reimbursed in our country. The parents of most of the 20 children who struggle with this condition went to Germany, where they got a job, insurance, and thus save their children - he explains. He adds that there are still talks on reimbursement in Poland, but the road to that is long and long. "I believe it will eventually happen," she says.
Moving to Germany
The enzyme replacement therapy the professor talks about is Cerliponase Alpha. In June 2022, this therapy was approved in the EU, and in April of the same year it was approved by the FDA as available without age restrictions.
- In this therapy, the enzyme, which the child's body does not produce, is administered directly to the brain's ventricles. The accumulated supply of this substance supports the normal metabolic process - she explains.
A dose of 300 mg must be administered every two weeks. - This is the only chance at the moment that these children will be able to live and that the progress of their disease will be stopped. We cannot say what will happen in 20 years, because in this disease we cannot think long-term, it is important here and now, the next days or weeks - says the professor.
He adds that the effectiveness of the therapy is satisfactory so far. One European clinical trial found that administration of the enzyme slowed the disease in 20 out of 23 patients and was well tolerated. Nobody discontinued treatment due to side effects.
Kuba's parents also decided to go to Germany. However, it has passed from diagnosis to treatment with a commercially available drugtwo years. - We did not have any major problems with the change of place of residence. We were rubbing to death, we fought for our child's life. In addition, for many years we have been associated with Szczecin, so right next to the border - says Mrs. Małgorzata.
Before there was a chance for treatment in Germany, Kuba's parents tried to qualify him for an experimental therapy from an American pharmaceutical company.
"In the worst case scenario, we did not think that the drug would be rationed again. 20 months ago, when Cuba was still very fit, we heard that there was not enough drug for everyone and the selection would be unethical, so we have to wait. Today the same selection turned out to be ethical, and our son has deteriorated too much to be profitable to invest in him. We will not give up - we will "invest" in Cuba, no matter what condition he is in. The brain is unpredictable. And Cuba is our oxygen "- Małgorzata wrote on the blog "Platynowy Chłopczyk" founded during the fight for her son's he alth.
- Where does this name come from? - I'm asking.
- Just look at his hair. She explains everything - says Mrs. Małgorzata. Indeed, Kuba's hair has a beautiful platinum color.
The chance for Cuba's treatment came only in 2022. - I think we had a great gift for persuasion, because the doctors decided to include a 7-year-old, seriously ill child in the program - recalls the boy's mother.
Little things that make you happy
She is convinced that although Kuba still does not walk and cannot see, the therapy he was subjected to was a lifeline. His condition did not worsen. - What may seem a trifle to an ordinary mortal who has not encountered this problem, is a milestone for us - he says.
Although Cuba still requires constant care, and activities such as eating or drinking his mouth take a lot of his time, it is possible to rehabilitate him and various therapies that affect both his physical condition and overall development.
- This treatment calmed our lives down, because so far every hour was really unpredictable. We can work for several hours a day, leave the house, and we were already at the stage when it was virtually impossible - says Małgorzata.
Thanks to therapy, they are able not only to go for a walk or to a restaurant alone, but also the three of them. - We find a lot of pleasure in small things, confesses Małgosia. She is glad that Kuba can smile and with his expression he signals when something hurts or that he doesn't like something.
- We have our own language, way of communicating. We know he likes red borscht and pumpkin soup and notloves kale, she says.
Kuba likes all kinds of activities related to music. She loves massage.
- I think it's after my mother - jokes Mrs. Małgorzata. She is glad that Kuba is walking more and more with the help of special equipment. - We have common legs during this walk. My step is his step. Although at the beginning he was a bit confused about what was going on, today you can see that he likes it very much - says Małgorzata.
Although Kuba did not utter any words for several years, now he makes sounds. - We haven't heard them before. They appear only now and are not accidental, they appear logically in certain circumstances, e.g. when he is left alone in a room for a moment, he says as if he were saying "hello, please come back" - he says.
The trouble is divided in two
She admits that she wouldn't be able to handle it all alone. She has enormous support in her husband and father, Kuba. - The joy experienced in two is double joy, and the sadness divided into two is half as much. Holy truth - he confesses.
Where does the strength come from to care for a sick child? She doesn't know herself. She jokes that if she could, she would gladly buy some of it at the store around the corner.
Taking care of Kuba requires from her and her husband a very good organization of time and professional activities. The rhythm of the day is determined by their son's rehabilitation activities, which make even more sense since he is treated. Kuba's lifestyle is quite regular, he must be fed and rehabilitated every three hours, but so that he does not feel overloaded and tired. Several physiotherapists work with him in turns.
- There is always one of us around. We are right there when Kuba is practicing. For the girls who work with him, it is also a kind of security in case something unpredictable happens - explains Małgorzata.
Recent years, as Małgorzata says, have changed a lot in every sphere of their lives.
- We did have to reorganize some things, but we have one child, our whole world - he says. One of those things was also professional activity.
Kuba's mother is a researcher, deals with economics and management. Before Kuba fell ill, she worked on the subject of innovation and entrepreneurship development, investment effectiveness assessment.
She transferred these experiences to the field of he alth protection and management of the broadly understood support system for people with rare diseases. She was also involved in a project to increase awareness of rare diseases, including CLN on the Polish side.
- There is no organization in Poland that de alt with people like Kuba, and every year our group is joined by 2-5 families with dramathis terrible diagnosis. Now we are trying to create such an organization in cooperation with German colleagues. I sit up to my ears in this disease and I know how many obstacles there are to overcome. I'm doing it for Cuba, but not only that. In Poland, the treatment of rare diseases leaves much to be desired. For two years, CLN2 has been treated in Europe, a reimbursement application has been processed in Poland for a year, and more families are leaving - he explains.
Lest it get worse
She admits that acting for people with rare diseases gives her an extra kick and does not allow her to think that "it is hopeless".
- There was a time when I felt like I had lost my life. There was nothing else I could do, Cuba was getting weaker every week and we were kept waiting for the drug to be available. An experimental drug that hasn't been on the market yet, but we already knew that helps. Today, two years after joining therapy, when we have grasped for a "piece" of hope, we do not think too much. The disease has slowed down, Kuba is here, he needs us, this is what we live - he says.
Does he think about the next baby? - Both my husband and I are carriers of a genetic error, so the risk of having a sick child born again is as high as 25 percent. There are various possibilities, but for now, we do not think about it - he says.
When asked about her dreams, she shortly answers: "I wish it wasn't worse than it is now".