An Astounding Treatment at an Astounding Price: Who Gets to Benefit?
Kelly Mantoan was nursing her newborn son, Teddy, in the NICU in a Philadelphia hospital when her doctor came in and silently laid a hand on her shoulder. Immediately, Kelly knew what the gesture meant and started to sob: Teddy, like his one-year-old brother, Fulton, had just tested positive for a neuromuscular condition called spinal muscular atrophy (SMA).
The boys were 8 and 10 when Kelly heard about an experimental new treatment, still being tested in clinical trials, called Spinraza.
"We knew that [SMA] was a genetic disorder, and we knew that we had a 1 in 4 chance of Teddy having SMA," Mantoan recalls. But the idea of having two children with the same severe disability seemed too unfair for Kelly and her husband, Tony, to imagine. "We had lots of well-meaning friends tell us, well, God won't do this to you twice," she says. Except that He, or a cruel trick of nature, had.
In part, the boys' diagnoses were so devastating because there was little that could be done at the time, back in 2009 and 2010, when the boys were diagnosed. Affecting an estimated 1 in 11,000 babies, SMA is a degenerative disease in which the body is deficient in survival motor neuron (SMN) protein, thanks to a genetic mutation or absence of the body's SNM1 gene. So muscles that control voluntary movement – such as walking, breathing, and swallowing – weaken and eventually cease to function altogether.
Babies diagnosed with SMA Type 1 rarely live past toddlerhood, while people diagnosed with SMA Types 2, 3, and 4 can live into adulthood, usually with assistance like ventilators and feeding tubes. Shortly after birth, both Teddy Mantoan and his brother, Fulton, were diagnosed with SMA Type 2.
The boys were 8 and 10 when Kelly heard about an experimental new treatment, still being tested in clinical trials, called Spinraza. Up until then, physical therapy was the only sanctioned treatment for SMA, and Kelly enrolled both her boys in weekly sessions to preserve some of their muscle strength as the disease marched forward. But Spinraza – a grueling regimen of lumbar punctures and injections designed to stimulate a backup survival motor neuron gene to produce more SMN protein – offered new hope.
In clinical trials, after just a few doses of Spinraza, babies with SMA Type 1 began meeting normal developmental milestones – holding up their heads, rolling over, and sitting up. In other trials, Spinraza treatment delayed the need for permanent ventilation, while patients on the placebo arm continued to lose function, and several died. Spinraza was such a success, and so well tolerated among patients, that clinical trials ended early and the drug was fast-tracked for FDA approval in 2016. In January 2017, when Kelly got the call that Fulton and Teddy had been approved by the hospital to start Spinraza infusions, Kelly dropped to her knees in the middle of the kitchen and screamed.
Spinraza, manufactured by Biogen, has been hailed as revolutionary, but it's also not without drawbacks: Priced per injection, just one dose of Spinraza costs $125,000, making it one of the most expensive drugs on the global market. What's worse, treatment requires a "loading dose" of four injections over a four-week period, and then periodic injections every four months, indefinitely. For the first year of treatment, Spinraza treatment costs $750,000 – and then $375,000 for every year thereafter.
Last week, a competitive treatment for SMA Type 1 manufactured by Novartis burst onto the market. The new treatment, called Zolgensma, is a one-time gene therapy intended to be given to infants and is currently priced at $2.125 million, or $425,000 annually for five years, making it the most expensive drug in the world. Like Spinraza, Zolgensma is currently raising challenging questions about how insurers and government payers like Medicaid will be able to afford these treatments without bankrupting an already-strained health care system.
To Biogen's credit, the company provides financial aid for Spinraza patients with private insurance who pay co-pays for treatment, as well as for those who have been denied by Medicaid and Medicare. But getting insurance companies to agree to pay for Spinraza can often be an ordeal in itself. Although Fulton and Teddy Mantoan were approved for treatment over two years ago, a lengthy insurance battle delayed treatment for another eight months – time that, for some SMA patients, can mean a significant loss of muscular function.
Kelly didn't notice anything in either boy – positive or negative – for the first few months of Spinraza injections. But one day in November 2017, as Teddy was lowered off his school bus in his wheelchair, he turned to say goodbye to his friends and "dab," – a dance move where one's arms are extended briefly across the chest and in the air. Normally, Teddy would dab by throwing his arms up in the air with momentum, striking a pose quickly before they fell down limp at his sides. But that day, Teddy held his arms rigid in the air. His classmates, along with Kelly, were stunned. "Teddy, look at your arms!" Kelly remembers shrieking. "You're holding them up – you're dabbing!"
Teddy and Fulton Mantoan, who both suffer from spinal muscular atrophy, have seen life-changing results from Spinraza.
(Courtesy of Kelly Mantoan)
Not long after Teddy's dab, the Mantoans started seeing changes in Fulton as well. "With Fulton, we realized suddenly that he was no longer choking on his food during meals," Kelly said. "Almost every meal we'd have to stop and have him take a sip of water and make him slow down and take small bites so he wouldn't choke. But then we realized we hadn't had to do that in a long time. The nurses at school were like, 'it's not an issue anymore.'"
For the Mantoans, this was an enormous relief: Less choking meant less chance of aspiration pneumonia, a leading cause of death for people with SMA Types 1 and 2.
While Spinraza has been life-changing for the Mantoans, it remains painfully out of reach for many others. Thanks to Spinraza's enormous price tag, the threshold for who gets to use it is incredibly high: Adult and pediatric patients, particularly those with state-sponsored insurance, have reported multiple insurance denials, lengthy appeals processes, and endless bureaucracy from insurance and hospitals alike that stand in the way of treatment.
Kate Saldana, a 21-year-old woman with Type 2 SMA, is one of the many adult patients who have been lobbying for the drug. Saldana, who uses a ventilator 20 hours each day, says that Medicaid denied her Spinraza treatments because they mistakenly believed that she used a ventilator full-time. Saldana is currently in the process of appealing their decision, but knows she is fighting an uphill battle.
Kate Saldana, who suffers from Type 2 SMA, has been fighting unsuccessfully for Medicaid to cover Spinraza.
(Courtesy of Saldana)
"Originally, the treatments were studied and created for infants and children," Saldana said in an e-mail. "There is a plethora of data to support the effectiveness of Spinraza in those groups, but in adults it has not been studied as much. That makes it more difficult for insurance to approve it, because they are not sure if it will be as beneficial."
Saldana has been pursuing treatment unsuccessfully since last August – but others, like Kimberly Hill, a 32-year-old with SMA Type 2, have been waiting even longer. Hill, who lives in Oklahoma, has been fighting for treatment since Spinraza went on the U.S. market in December 2016. Because her mobility is limited to the use of her left thumb, Hill is eager to try anything that will enable her to keep working and finish a Master's degree in Fire and Emergency Management.
"Obviously, my family and I were elated with the approval of Spinraza," Hill said in an e-mail. "We thought I would finally have the chance to get a little stronger and healthier." But with Medicare and Medicaid, coverage and eligibility varies wildly by state. Earlier this year, Medicaid approved Spinraza for adult patients only if a clawback clause was attached to the approval, meaning that under certain conditions the Medicaid funds would need to be paid back. Because of the clawback clause, hospitals have been reluctant to take on Spinraza treatments, effectively barring adult Medicaid patients from accessing the drug altogether.
Hill's hospital is currently in negotiations with Medicaid to move forward with Spinraza treatment, but in the meantime, Hill is in limbo. "We keep being told there is nothing we can do, and we are devastated," Hill said.
"I felt extremely sad and honestly a bit forgotten, like adults [with SMA] don't matter."
Between Spinraza and its new competitor, Zolgensma, some are speculating that insurers will start to favor Zolgensma coverage instead, since the treatment is shorter and ultimately cheaper than Spinraza in the long term. But for some adults with SMA who can't access Spinraza and who don't qualify for Zolgensma treatment, the issue of what insurers will cover is moot.
"I was so excited when I heard that Zolgensma was approved by the FDA," said Annie Wilson, an adult SMA patient from Alameda, Calif. who has been fighting for Spinraza since 2017. "When I became aware that it was only being offered to children, I felt extremely sad and honestly a bit forgotten, like adults [with SMA] don't matter."
According to information from a Biogen representative, more than 7500 people worldwide have been treated with Spinraza to date, one third of whom are adults.
While Spinraza has been revolutionary for thousands of patients, it's unclear how many more lives state agencies and insurance companies will allow it to save.
When doctors couldn’t stop her daughter’s seizures, this mom earned a PhD and found a treatment herself.
Twenty-eight years ago, Tracy Dixon-Salazaar woke to the sound of her daughter, two-year-old Savannah, in the midst of a medical emergency.
“I entered [Savannah’s room] to see her tiny little body jerking about violently in her bed,” Tracy said in an interview. “I thought she was choking.” When she and her husband frantically called 911, the paramedic told them it was likely that Savannah had had a seizure—a term neither Tracy nor her husband had ever heard before.
Over the next several years, Savannah’s seizures continued and worsened. By age five Savannah was having seizures dozens of times each day, and her parents noticed significant developmental delays. Savannah was unable to use the restroom and functioned more like a toddler than a five-year-old.
Doctors were mystified: Tracy and her husband had no family history of seizures, and there was no event—such as an injury or infection—that could have caused them. Doctors were also confused as to why Savannah’s seizures were happening so frequently despite trying different seizure medications.
Doctors eventually diagnosed Savannah with Lennox-Gaustaut Syndrome, or LGS, an epilepsy disorder with no cure and a poor prognosis. People with LGS are often resistant to several kinds of anti-seizure medications, and often suffer from developmental delays and behavioral problems. People with LGS also have a higher chance of injury as well as a higher chance of sudden unexpected death (SUDEP) due to the frequent seizures. In about 70 percent of cases, LGS has an identifiable cause such as a brain injury or genetic syndrome. In about 30 percent of cases, however, the cause is unknown.
Watching her daughter struggle through repeated seizures was devastating to Tracy and the rest of the family.
“This disease, it comes into your life. It’s uninvited. It’s unannounced and it takes over every aspect of your daily life,” said Tracy in an interview with Today.com. “Plus it’s attacking the thing that is most precious to you—your kid.”
Desperate to find some answers, Tracy began combing the medical literature for information about epilepsy and LGS. She enrolled in college courses to better understand the papers she was reading.
“Ironically, I thought I needed to go to college to take English classes to understand these papers—but soon learned it wasn’t English classes I needed, It was science,” Tracy said. When she took her first college science course, Tracy says, she “fell in love with the subject.”
Tracy was now a caregiver to Savannah, who continued to have hundreds of seizures a month, as well as a full-time student, studying late into the night and while her kids were at school, using classwork as “an outlet for the pain.”
“I couldn’t help my daughter,” Tracy said. “Studying was something I could do.”
Twelve years later, Tracy had earned a PhD in neurobiology.
After her post-doctoral training, Tracy started working at a lab that explored the genetics of epilepsy. Savannah’s doctors hadn’t found a genetic cause for her seizures, so Tracy decided to sequence her genome again to check for other abnormalities—and what she found was life-changing.
Tracy discovered that Savannah had a calcium channel mutation, meaning that too much calcium was passing through Savannah’s neural pathways, leading to seizures. The information made sense to Tracy: Anti-seizure medications often leech calcium from a person’s bones. When doctors had prescribed Savannah calcium supplements in the past to counteract these effects, her seizures had gotten worse every time she took the medication. Tracy took her discovery to Savannah’s doctor, who agreed to prescribe her a calcium blocker.
The change in Savannah was almost immediate.
Within two weeks, Savannah’s seizures had decreased by 95 percent. Once on a daily seven-drug regimen, she was soon weaned to just four, and then three. Amazingly, Tracy started to notice changes in Savannah’s personality and development, too.
“She just exploded in her personality and her talking and her walking and her potty training and oh my gosh she is just so sassy,” Tracy said in an interview.
Since starting the calcium blocker eleven years ago, Savannah has continued to make enormous strides. Though still unable to read or write, Savannah enjoys puzzles and social media. She’s “obsessed” with boys, says Tracy. And while Tracy suspects she’ll never be able to live independently, she and her daughter can now share more “normal” moments—something she never anticipated at the start of Savannah’s journey with LGS. While preparing for an event, Savannah helped Tracy get ready.
“We picked out a dress and it was the first time in our lives that we did something normal as a mother and a daughter,” she said. “It was pretty cool.”
A sleek, four-foot tall white robot glides across a cafe storefront in Tokyo’s Nihonbashi district, holding a two-tiered serving tray full of tea sandwiches and pastries. The cafe’s patrons smile and say thanks as they take the tray—but it’s not the robot they’re thanking. Instead, the patrons are talking to the person controlling the robot—a restaurant employee who operates the avatar from the comfort of their home.
It’s a typical scene at DAWN, short for Diverse Avatar Working Network—a cafe that launched in Tokyo six years ago as an experimental pop-up and quickly became an overnight success. Today, the cafe is a permanent fixture in Nihonbashi, staffing roughly 60 remote workers who control the robots remotely and communicate to customers via a built-in microphone.
More than just a creative idea, however, DAWN is being hailed as a life-changing opportunity. The workers who control the robots remotely (known as “pilots”) all have disabilities that limit their ability to move around freely and travel outside their homes. Worldwide, an estimated 16 percent of the global population lives with a significant disability—and according to the World Health Organization, these disabilities give rise to other problems, such as exclusion from education, unemployment, and poverty.
These are all problems that Kentaro Yoshifuji, founder and CEO of Ory Laboratory, which supplies the robot servers at DAWN, is looking to correct. Yoshifuji, who was bedridden for several years in high school due to an undisclosed health problem, launched the company to help enable people who are house-bound or bedridden to more fully participate in society, as well as end the loneliness, isolation, and feelings of worthlessness that can sometimes go hand-in-hand with being disabled.
“It’s heartbreaking to think that [people with disabilities] feel they are a burden to society, or that they fear their families suffer by caring for them,” said Yoshifuji in an interview in 2020. “We are dedicating ourselves to providing workable, technology-based solutions. That is our purpose.”
Shota Kuwahara, a DAWN employee with muscular dystrophy. Ory Labs, Inc.
Wanting to connect with others and feel useful is a common sentiment that’s shared by the workers at DAWN. Marianne, a mother of two who lives near Mt. Fuji, Japan, is functionally disabled due to chronic pain and fatigue. Working at DAWN has allowed Marianne to provide for her family as well as help alleviate her loneliness and grief.Shota, Kuwahara, a DAWN employee with muscular dystrophy, agrees. "There are many difficulties in my daily life, but I believe my life has a purpose and is not being wasted," he says. "Being useful, able to help other people, even feeling needed by others, is so motivational."