LVIV, Ukraine—Unlike most parents of kids with spinal muscular atrophy (SMA), Nataliya Radysh was familiar with the devastating illness long before it affected her personally. She and her ex-husband, a vascular surgeon, had both learned about SMA as medical students.
“I wanted to be a neurologist,” she said. “But when we began studying rare diseases, I realized it would be too hard for me to treat patients without seeing any results, so I chose another field.”
Armed with a medical degree, Radysh became a general therapist in her native Lviv, a historic city in extreme western Ukraine, close to the Polish border. Still, it came as a shock when their daughter, Sofijka—a seemingly healthy baby born on September 2, 2008—was diagnosed with SMA type 1 only 3 months later.
“At that time, doctors had no experience on how to care for such children,” Radysh, 40, told Rare Disease Advisor, speaking from the kitchen of her 9th-floor apartment overlooking a city park and the nearby Ukrainian Greek Catholic Church of the Blessed Virgin Mary. “They told us she would not live to be a year old.”
But Sofijka defied the odds, and after surviving acute respiratory failure at 18 months of age, she became the first Ukrainian baby with SMA ever to be brought home from the hospital on a ventilator.
About that same time, Radysh, a practicing Catholic, learned she was pregnant again. She declined to undergo a prenatal diagnosis or consider an abortion, despite the likelihood that her second child would have SMA type 1— one of the most severe types—as well. This is exactly what happened.
“I understood this was a risk,” she said, “but it was my decision, and I don’t regret my choice.”
Today, Sofijka, 13, can read and write. She also speaks, though with poor articulation. Her 11-year-old brother Lukyan communicates with intonation and limited sounds, yet his family understands him.
“They can’t hold their heads up or sit on their own. They spend most of the day in their beds,” she said. “My children breathe with the help of ventilators and eat through nasogastric tubes. However, despite such a terrible and serious illness, they understand and feel everything.”
Sofijka and Lukyan are among an estimated 300 to 400 SMA patients in Ukraine, Europe’s second-largest country by population but its poorest in terms of annual per-capita income—a byproduct of mismanagement, corruption, the COVID-19 pandemic, and a violent separatist movement that has systematically destroyed Ukraine’s economy. Type 1 is the most common form of SMA, and one of the most severe.
About 50 of those patients have SMA type 1, according to Vitaliy Matyushenko, who established the CSMA Foundation in 2004 after the diagnosis of his daughter, Yuliya, with SMA type 2.
A resident of Kharkiv—12 hours by car east of Lviv—Matyushenko, 53, had to quit his job as a physicist to care for Yuliya; his wife, Svitlana, a mathematician, also had to stop working.
“Yuliya had a normal childhood until her first birthday,” Matyushenko said. “After that, we started noticing things like difficulty standing up, walking strangely. Now I can see these signs in other SMA children when we discuss with their parents, but at that time we understood nothing.”
After the initial devastation of Yuliya’s diagnosis, he said, “we decided to know more about the disease, and knew in the depth of our souls that it was not the end. In retrospect, I think that even if her diagnosis had been more severe, such as type 1, our actions would have been the same.”
Today, Yuliya is 18. Her younger brother, 16-year-old Danylo, is an SMA carrier with a 25% chance of passing the disease along to his children, though otherwise, he’s a healthy teenager. At present, Yuliya is in her second year of high school, studying German.
Since late last year, Yuliya has been receiving Roche’s risdiplam (Evrisdi®), a liquid taken once a day by mouth or feeding tube, through the company’s compassionate use program. So are Radysh’s children, Sofijka and Lukyan.
“As a doctor, I understood that when I started giving my children this medicine, I could not expect big results, because for years they didn’t receive any treatment,” Radysh said. Yet in the past year, she’s seen a gradual return of motor activity, articulation, and facial expression in both of her kids—an improvement Radysh attributes directly to risdiplam.
The CSMA Foundation is a member of Ukraine’s National Rare Disease Alliance, which, in turn, belongs to EURORDIS, a nonprofit coalition of 974 rare disease patient organizations from more than 70 countries in Europe and elsewhere. Until 2019, the alliance sent a delegation to the annual EURORDIS conference in Vienna, Austria.
But since the beginning of the pandemic, all such events have taken place virtually; at present, COVID-19 is seeing a dramatic rise throughout Ukraine, with nearly 30,000 new cases a day amidst widespread vaccine skepticism, compounding the country’s economic woes.
Sadly, about 50 Ukrainian families have had no choice but to emigrate—mainly to Italy, Germany, and Poland—in order to obtain treatment with Biogen’s nusinersen (Spinraza®) or the Novartis gene therapy onasemnogene abeparvovec-xioi (Zolgensma®), neither of which are easily available in Ukraine.
“It directly affects treatments, because there are no state funds to reimburse for SMA in Ukraine,” Matyushenko said. “We can only obtain gene therapy through a lottery program or by raising our own money for one shot.”
For now, risdiplam is readily available for 8400€ ($9750) per bottle, or about 25,200€ ($29,300) per month for patients weighing more than 20 kg. Nusinersen costs 69,000€ ($80,000) per dose, with the treatment regimen requiring 6 loaded doses in the first year, then 1 dose every 4 months thereafter. That’s an enormous amount of money in a country whose official minimum monthly wage is 170€ ($210).
In Kyiv, Ukraine’s capital, hospitals have started reimbursing for these drugs for a very limited number of patients, Matyushenko said.
“Our community is waiting for a decision on reimbursement following legislation that will allow negotiations with pharmaceutical companies, but it’s not known yet how many patients will be reimbursed,” he said. “Many doctors want to treat people because now, there’s treatment available. Before, it was a big challenge to connect with doctors without this option.”
Meanwhile, Radysh spends much of her time in her children’s large bedroom, which is filled with colorful balloons, stuffed animals, and a freshwater aquarium stocked with goldfish and guppies. The room also contains ventilators, pulse oximeters, inhalers, suction devices, plastic tubes, and an array of medical machinery not normally found in the average child’s bedroom.
“I have had to master many skills—drainage massages, developing contractures in the joints of the arms and legs, daily care of the tracheostomy tube, respiratory therapy and other measures aimed at preventing infections, in particular pneumonia,” she said.
Radysh employs a handful of nurses to care for her children in rotating shifts, paying them 2€ ($2.30) per hour. Her parents help financially with food and housing, though it’s not enough—forcing her from time to time to appeal to charitable foundations and benefactors for funds.
Her ex-husband works part-time in Germany, which covers nusinersen for children with SMA. “But I don’t think [moving there is] a good idea because the kids have many friends here, as well as their grandparents,” Radysh said. “There, in a foreign country, we don’t know anybody, and I understand the results from Spinraza may be minimal at their age.”
Despite everything, Radysh said, her children appear happy and content. This year, in spite of COVID restrictions and the difficulties associated with transporting SMA children and all their equipment, she was able to take her kids on various local excursions including a fishing trip, a children’s theater performance, the local dinosaur park, and the medieval center of Lviv.
“Like all children, Sofijka and Lukyan love to play, communicate, learn about the world and realize their dreams and desires,” she said. “Every day is a struggle for life—and the art of being happy at the same time. They give us and others lots of joy and warmth, and they teach us patience, mercy, and unconditional love.”