A boy born in January has become North Macedonia’s first child with the most severe form of spinal muscular atrophy to make it through early infancy after he began receiving Spinraza (nusinersen), Biogen’s first approved therapy for all forms of SMA.
This means North Macedonia’s national health care system will begin making the treatment available to the country’s 10 patients, including the 6-month-old boy with type 1 SMA, in September, Velkovska said in a phone interview on Wednesday. The health ministry approved Spinraza’s use in 2018.
Because lawmakers had yet to authorize funding for Spinraza at the time the baby was born, he has been treated in Zagreb, Croatia, under a national health insurance provision that covers overseas treatment costs in life-threatening emergencies.
Croatian women who have children with SMA responded quickly to Velkovska’s request to support the North Macedonian mother during her son’s initial months of treatment in April and May. One showed up at his hospital the day after he was admitted.
Women in the Balkan region with children with SMA have formed an unofficial online support group, Velkovska told SMA News Today during the South East European Meeting on Rare Diseases, held June 7–9 in the mountain resort of Struga in North Macedonia.
“When we need each other, we contact each other immediately on social media,” Velkovska said. “It’s fantastic collaboration.”
The Croatian women’s support helped to steady the boy’s mother, Velkovska added. The mom barely knew what SMA was before doctors told her in April — when her son was 3 months old — that he would die within weeks without treatment. (The family’s names were not disclosed.)
Help from Croatia
The Croatians’ cross-border warmth rekindled Velkovska’s memories of the help that American women with SMA kids gave to her 11-year-old son Jane — pronounced Ya-neh — who has type 2 SMA.
The help has included breathing and mobility equipment worth thousands of dollars, and an elevator that gives Jane access to both floors of the family home. SMA, which is caused by a genetic defect, weakens muscles, including those that control breathing.
Only a week passed between the April assessment by doctors in Skopje, the capital, that the type 1 infant needed emergency treatment and his arrival in Zagreb, Velkovska said.
“He was having trouble breathing — the disease was progressing very fast,” she said.
Before Spinraza, the baby was unable to move his arms and legs. Now he can do that, and also place a pacifier in and out of his mouth.
In North Macedonia, a country of 2 million people, the SMA community is tiny, so the families know each other.
But the boy’s diagnosis is so recent that Velkovska has yet to meet his parents, who live in Negotino, a town southeast of Skopje. Meanwhile, she said, his mother “is sending me video all the time that shows he’s doing much better.”
Spinraza coming into health plan
The boy’s mother is back home for now, but she’ll keep taking him to Croatia for treatment (although that might change when North Macedonia’s national health plan begins covering Spinraza). At the Struga meeting, Venko Filipce, the country’s health minister, said Parliament was just days away from passing a bill authorizing national health fund coverage.
Public funding is crucial, given that Spinraza’s U.S. retail price is $750,000 for the first year of treatment and $375,000 for each year after that. Many countries’ national health agencies try to negotiate discounts on the prices of very expensive medicines, but Velkovska did not know details regarding her country’s coverage.
Access to Spinraza can’t come soon enough for Velkovska’s group, which waited more than 18 months between health ministry approval and funding authorization.
Velkovska looks forward to seeing what the treatment will do for Jane, who uses a wheelchair, a ventilator and a cough-assistance machine that removes secretions from his lungs to prevent infection.
“I dream that Jane will be able to walk one day and become much more independent than he is now,” she said. She is sure the newborn’s improvement is fueling similar hopes about Spinraza among other parents with SMA children.
The equipment that Jane uses came from American families whose SMA children either outgrew it or died, and from rare-disease assistance organizations, Velkovska said. Without the donations, some of the equipment — like the cough-assist machine, which costs $5,000 new — would have been out of her reach.
Friendship with Maryland mom
Velkovska now has a particularly close relationship with Stacey Struble of Federalsburg, Maryland, whose 13-year-old son Philip is two years older than Jane.
When Philip outgrew his first motorized wheelchair, his mother gave it to Jane, who at age 6 was just starting school.
“He’s open, very friendly, and has many friends,” Velkovska said. “But he had to play outside with them in a manual wheelchair” — and it was hard for him to keep up. So he was thrilled when the powered model arrived.
“I remember that day,” Velkovska said. Jane was wheeling around so feverishly that “I had to tell him to slow down.”
Although the elevator wasn’t a donation from Struble, her American friend made it happen by suggesting that Velkovska contact the Arizona-based Make-A-Wish Foundation. A few months later, the elevator was in her home, up and running.
As Velkovska waits for Spinraza for Jane, the uplifting story of the type 1 newborn is never far from her mind.
“This baby is precious to Macedonia’s SMA community,” she said, “because he’s the only type 1 child still alive.”