Nearly a million Belgians have donated money to get a baby lifesaving gene therapy for an otherwise fatal condition.
The drug, Zolgensma, is not yet approved for use in Europe, so the frantic parents’ only option is to travel to the U.S. and pay full price – $2.1 million.
Without it, Pia Boehnke could die by age 2 from Type 1 spinal muscular atrophy (SMA), a genetic condition affecting the spinal cord nerves, according to the National Library of Medicine in the U.S. It weakens muscles, making it hard to move, breathe and swallow. SMA type 1, also known as Werdnig-Hoffmann disease, is a severe but the most common form of the condition, the library says.
“Most children with spinal muscular atrophy type I do not survive past early childhood due to respiratory failure,” the library says.
Pia was first diagnosed at 4 months old after her mother, Ellen De Meyer, realized something was amiss in her daughter’s developmental markers. She wasn’t moving around much and still could not hold up her head.
“SMA. 3 letters that changed our lives,” De Meyer wrote back in July upon launching the website geared toward saving her daughter’s life.
Pia’s family has launched a fund-raising campaign and website both to raise awareness and to obtain the money for their daughter’s treatment.
For now, a new drug, Spinraza, is keeping her alive, says her family on the infant’s GoFundMe site. Recently, though, “a wonderous medicine was invented, called Zolgensma,” says the site, which her parents wrote in her first-person voice. “It’s a gene-therapy, administered in one shot, that will put the SMN-1 gene I’m missing into my DNA. The first results of this medicine are very promising. I could lead a long, beautiful life, in which I might even learn to walk, or at least be more independent.”
The catch? It’s not yet approved for use in the European Union, so is not available on that side of the Pond. The U.S. Food and Drug Administration (FDA) has approved it, and it’s available here. But since it’s not an option in Europe, it’s not covered by the Meyer-Boehnkes’ insurance. Hence the $2 million price tag, which even Swiss manufacturer Novartis can’t reduce, according to BBC News.
The treatment is a “one-off, transformative therapy for an extremely rare disease,” the company told BBC News. “We are aware of Pia and the efforts to facilitate her access to treatment. We also recognize that patients and families around the world are interested in gaining access to treatment as quickly as possible.”
The tot missed the deadline for a clinical trial by two weeks, her parents said.
“I’m currently the only child in Belgium not in such a trial, and thus the only one that doesn’t get this medicine,” the fund-raising writeup says.
As of Wednesday, more than 950,000 Belgians had donated enough for a single course of treatment, reported BBC News. There were two funding mechanisms, a text-messaging donation app and the GoFundMe site.
The family plans to travel to the U.S. for treatment as soon as the money hits their account
“It is overwhelming that a country can come together for something like this,” De Meyer told VRT News in Belgium, according to BBC News. “The fact that this happens in two days is insane.”