In the article by reporter Ján Krempaský from SME newspaper, we present you five stories of children with spinal muscular atrophy who train at ADELI Medical Center, (a rehabilitation clinic located in Piešťany, Slovakia) to build their muscles.
They were like rag dolls. Some of them could not even lift their arms, others lay motionless in bed. Their state of health resembled that of two-year-old Editka Rischerová from western Slovakia, who suffers from spinal muscular atrophy (SMA) in a similar way. It is an inherited neuro-muscular disease. It affects the part of the nervous system that controls the movements of muscles. However, it does not affect the child's mental abilities. People affected by this disease are intelligent and bright. If the disease can be reversed, they are also manually dexterous. However, due to the disease, affected children gradually stop sitting, walking and standing. Problems with breathing and swallowing are also common. When Editka received the drug worth two million euros - Zolgensma - in March this year, which is able to stop the progress of this disease, a controversy arose in Slovakia about whether the girl should get it. Indeed, it costs two million euros and is not covered by public health insurance. Editka, however, is not the only child who has received this drug. The SME newspaper spoke to five parents from Slovakia, the Czech Republic, Austria and Germany whose children have SMA and have received Zolgensma. All of them go to Adeli Medical Center in Piešťany for rehabilitation. Editka's parents did not respond by the deadline to a question about how their daughter is doing after taking Zolgensma. Currently, they are preparing a complaint to the Constitutional Court about the decision of the Regional Court in Bratislava.
This is because the regional court overturned the original decision of the district court, which had issued an injunction ordering the General Health Insurance Fund (VšZP) to pay Editka for the drug.
"My wife cries every time the little boy makes progress. These are tears of happiness," says Tomáš Fiala from Ostrava about the improvement in the health of his three-and-a-half-year-old son Tomáš after the administration of Zolgensma and the rehabilitation measures at the Adeli Center. "In the beginning, we had a completely recumbent child," recalls the father of little Tomáš. The boy was born at the end of 2019. He was completely healthy until he was ten months old. Then Tomáš's wife took their son for a checkup, where she told the doctor that he couldn't turn onto his stomach or sit up on his own. He also had problems swallowing large pieces. After several examinations, little Tomáš was diagnosed with spinal muscular atrophy in December 2020. He has the second degree like Editka. Similar to her parents, Tomáš's parents initially had trouble getting approval for the drug Zolgensma, which is also paid for on an exceptional basis in the Czech Republic. "We had a smaller regional health insurance company," Tomáš's father explains. According to him, this had difficulties paying for both Zolgensma and Spinraza for the boy. However, the Slovak VšZP immediately approved Editka for the second drug. Spinraza, however, is not as effective as Zolgensma and must be taken for life. With Zolgensma, one dose is sufficient. Despite initial problems, little Tomáš received Zolgensma in the second half of March 2021, at which time he was one year and three months old. After the administration of the drug around two million, he was significantly better. "The first progress was crawling," recalls the boy's father. "After half a year, sitting followed. Now he's even starting to stand up. He stands on his own, even without support," Tomáš Fiala Senior does not hide his joy. The improvement in health was also supported by the rehabilitations for Tomáš. When the Fialas first visited the ADELI, their son could not climb on the couch and come back down. "Now he can do it without any problems," says the boy's father. Rehabilitation at ADELI in Piešťany, however, is not a cheap affair. His marketing consultant Lenka Chovanec says that a two-week rehabilitation costs more than 2800 euros. The Fialas were able to afford it thanks to a fundraising campaign through a transparent account.
"My daughter was practically a lying, motionless rag doll. She could lift her arm, but only from the elbow," recalls Marcela, the mother of Amélie Bartakovics from Horné Saliby near Galanta. Amélie is one of four children - Alex, Alexei and Richard alongside her - for whom the whole of Slovakia collected money for Zolgensma four years ago. Even the head of parliament Boris Kollár (Sme rodina) promised financial help. Thanks to transparent accounts, the children, including Amélie, were able to raise money for the drug. "When we asked the insurance company to pay for the drug Zolgensma, it had not yet been approved by the European Medicines Agency (EMA)," the girl's mother recalls. After the EMA registered the drug in May 2020, Amélie received it in June of that year. She was one and a half years old. Unlike Edita, Amélie has the first degree of SMA. "Zolgensma helped Amélie mostly motor-wise," her mother says. After taking medication and regular rehabilitation sessions, her daughter can now sit in a wheelchair for half an hour and hold her head for a few seconds, according to her mother. She can turn herself onto her stomach. She has even begun to speak simple words and short sentences. "Her breathing has improved, she can breathe without ventilation during the day," Marcela Bartakovics says happily. "All this progress is visible and makes our lives easier," she adds. "We have learned in rehabilitation to position Aminka correctly, to exercise with her to strengthen her muscles," says her mother. Speech therapy was also a big contribution. "At that time, my daughter did not speak yet, we were recommended orofacial stimulation and a special speech therapy device for massage to strengthen the muscles," she explains. Today, Amélie speaks simple sentences. Despite the improvement in her health, however, the girl has another problem: scoliosis, a spinal deformity. It is one of the concomitants of SMA. "It's mainly caused by muscle weakness," Amélie's mother explains. "In our case, overheating also played a big role. Aminka doesn't overheat and we had to keep her in a position where she didn't get too warm," Marcela Bartakovics explains. So the scoliosis also developed because of the positioning. For this reason, Amélie's parents decided to undergo scoliosis surgery in Hamburg. "In the near future, we will have our first examination, where we will find out the exact date of the surgery," says the mother. "Let's be realistic," says Marcela Bartakovics. In her opinion, her daughter would have had a great chance to be a nearly healthy child if she had received the drug Zolgensma right after birth, before the first signs of the disease. However, Amélia did not receive the drug until she was a year and a half old, even though her disease was diagnosed when she was three months old. "We believe there is very little chance that she will ever be able to walk in the future," says the realistic mother of the three-year-old girl.
"Yes, we always believed that one day he would be able to walk," says Doreen, the mother of two-year-old Lukas Pötter from a small village near Berlin. "He is very strong and is fighting to improve his health with physical therapy and sports," she adds. When Luke was born in May 2021, he had no health complications, according to his mother. Within two months, however, that changed when he was diagnosed with first-degree SMA in July. According to Doreen, the disease progressed quickly, so she considers it the greatest success that her son is alive at all. When he received the drug Zolgensma in August 2021, he was only able to move his legs, while after birth he was able to lift his legs and arms and hold his head upright in the prone position. Fortunately, help came early in the form of Zolgensma. Just one month after being diagnosed with SMA, he received the medication. "We had no expenses with Zolgensma," Doreen says. Her son's health insurance covers nearly one hundred percent of the cost of treatment. Luke's mother says his health improved after he was given the drug in August 2021. Suddenly, he could move his legs again for a few seconds. "Luke now rolls on the floor in the room," his mother praises the improvement in his health. Turning the child is a great progress in this disease. The boy can even lift both legs to his mouth and use his hands to lift light objects. Rehabilitation at the Adeli Center has also contributed to the improvement of his health condition, where Luke has been once before. His mother admits that the beginning of his stay was not easy. "The beginning stages of therapies there are very hard on any mother's heart," Doreen says. The physical therapists SME newspaper spoke to say that children don't always want to do the prescribed exercises, so they cry. Some mothers have difficulty with this. Nevertheless, Doreen admits that rehabilitation has helped her son.
"My daughter would not be what she is now without Zolgensma - a radiantly happy and contented child," says Danijela Vukmanovič from Lungau in Salzburg, Austria, about her two-and-a-half-year-old daughter Anastasia. The girl suffers from first-degree SMA. The disease was diagnosed in May 2020, and a month later, at a state hospital in Salzburg, she became the first child in Austria to receive Zolgensma. The two-millionth drug was paid for entirely by the hospital for Anastasia, her mother Danijela said. After Zolgensma was administered, the girl's health improved significantly. She began to control her head and hands independently. "She can eat with a spoon and fork. She drives a wheelchair by herself and, of course, she plays and paints," Danijela lists. Rehabilitation at a center in Piešťany has also contributed to the skills she has acquired. "We have been there three times and it has been great. Anastasia has gained a lot of strength and energy during these stays," says her mother. She plans to return to the center with her daughter after the scoliosis surgery Anastasia is suffering from. The surgery will be performed at the University Hospital in Graz.
Of all the children mentioned in this article, Emil from Germany was the first to receive Zolgensma. That's not his real name. "We would like to let him decide for himself whether his medical diagnosis should be so publicly available," explains his mother Marina. That's not her real name either. However, the SME newspaper knows the real names of both people. Emil received Zolgensma already on the 18th day after birth. He was diagnosed with SMA of the first degree on the 13th day. The health insurance reimbursed the drug without any problems. The boy began showing symptoms of the disease immediately after birth. "He had so little tension in his body that his arms hung down when he was carried. He also couldn't close his fingers tightly like other newborns," Marina said, describing Emil's health. After administering Zolgensma, there was a visible improvement after only two months. He was suddenly able to hold his arms together, which previously hung limply next to his body. Rehabilitation at a center in Piešťany also visibly helped him. These stays were also paid for by health insurance. In Slovakia or the Czech Republic, parents have to pay for such rehabilitation stays almost entirely themselves. According to his mother, the rehabilitation helps Emil in particular to stabilize his trunk, which is especially important when walking. Marina is convinced that even if her son needs a walking stick or wheelchair for longer distances, it is important for him to move.
"Yes, I hope that our son will walk normally. Even if it is later and slower," Marina does not lose hope.
Ján Krempaský © SME, Published June 2023
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