With arrival of breakthrough therapies, a rare disease group reconsiders the possible — and its mission

Dallas — Inside Kelly Eakin’s garage in suburban Maryland, two of the world’s smallest wheelchairs gather dust.

Just a few years ago, these wheelchairs were in high demand. There was a constant waiting list of eight or nine young children with spinal muscular atrophy, or SMA, a devastating disease that could shorten life and stunt growth so severely many patients couldn’t use the child wheelchairs insurance covered. So the Fighting for Kaiden Foundation, of which Eakin is president, ordered 7-pound ones from a Swedish manufacturer at $6,000 or $7,000 a pop.

Since December 2016, though, three powerful SMA therapies have been approved. These drugs have dramatically altered the outlook for anyone born with the rare neuron-wasting disease, allowing many to not only live and grow but even walk.

So now, the chairs go unused. And Fighting for Kaiden has shifted to supporting kids who are growing up and getting bigger. Eakin set up a booth at the Muscular Dystrophy Association’s conference in Dallas last week, handing out brochures and toy ducks in hopes of raising money for the adapted mission.

“I’ll post about them on all the SMA pages and say, ‘we have micro chairs,’” Eakin said. “And we might get kind of one straggler that comes through.”

Fighting for Kaiden isn’t alone. Although truly transformative treatments for rare diseases remain unusual, a new age of genetic medicine is forcing some patients, families, researchers and nonprofits to confront a blessedly existential question: What happens once your disease is no longer really the same disease? What do you do when the years of fundraising and lobbying and research actually pay off?

The Cystic Fibrosis Foundation, most notably, is spending hundreds of millions of dollars to find treatments for the 10% of patients whose mutations are unaffected by Vertex’s potent CF pills. Make-A-Wish removed CF from its list of automatically qualifying conditions this month, while adults with the condition ponder what to do with their (potential) extra decades.

At the Dallas conference, Duchenne muscular dystrophy researchers and patient advocates contemplated a similar shift, as a gene therapy for the muscle-wasting disease may be approved this spring: Could you give patients fewer steroids, the longstanding but debilitating standard of care? Would boys with Duchenne be able to grow tall, their growth no longer stunted? What would the course of the disease look like overall?

For SMA, that moment has arrived. Doctors speculated on what a genotype, previously seen almost only in very young children, might mean in tweens, adolescents, adults. Will the disease, which affects around 1 in every 10,000 newborns, manifest in new ways?

“We now have people living longer,” Kathy Mathews, a professor of pediatrics at the University of Iowa, said on a panel. “Are we going to see new problems?”

Parents have similar questions. Eakins said one mom recently reported that her son started having seizures, which had never been associated with SMA. Is it related to the drug or is that just what SMA can look like in later childhood? Or do those few kids just happen to have a seizure disorder as well?

Doctors also have to pick between different treatments, figuring out the best protocols for different children after a diagnosis, generally by newborn screening.

Much of Eakins’ work, though, centers on the small generation of patients who were caught in between — born recently enough to benefit from new medicines but too late to receive them from birth. Treating SMA is a race against time. New drugs can preserve neurons but they cannot restore the ones lost in the first months of life.

“So the disease has already started to progress,” said Eakin. “And even though they’re gaining abilities, and they’re getting stronger, and they’re doing better than the expected diagnosis, their bodies are still very much affected.”

There is also the small percentage of newborns today who fall through gaps in screening and treatment.

Eakin’s twin boys, Bryce and James, belong to that in-between generation. They were almost 7.5 months old when Eakin got them into a trial for Spinraza, which became the first SMA drug. They used the micro-wheelchairs to propel themselves around the house, to explore what’s in this room or that without their parents having to take them. The chairs were small enough Eakin could lift them to go to a neighbor’s house for dinner.

Kaiden was also in that generation. His grandparents, Kristina and Brian, and his step-grandparent, JoAnn, founded the organization after Kaiden was diagnosed and they found few resources online besides a single webpage that laid out in sparse, unsympathetic prose the decline and death they could likely expect.

But Kaiden got Spinraza when he was 6 months old, and as he grew up, he joined the foundation’s effort. He loved Hot Wheels and video games, and when the foundation did giveaways on his birthday, he’d draw the tickets and talk about what he loved about each of the video games it was handing out.

Kaiden passed away in November. It was a shock to the community, including Eakin’s twins, who had hung out with Kaiden at events. Although parents knew the drugs weren’t a cure, that the future was always uncertain, Kaiden and the rest of the children had been improving. Last Monday would’ve been his 8th birthday.

“We believed in the immortality of all of our kids,” Eakin said. “They were getting drugs and they were getting better. The question of death just kind of fell off the table.”

The foundation slowed down for a while, only working to make sure grants got filed on time.

“So as the foundation kind of picks back up, it’s like, what next? How does this look?” Eakin said. “Because originally, it was like we were doing everything with Kaiden, for Kaiden. And you know, Kaiden’s motto was like, he wanted to help his friends.”

What’s next looks, in part, like other equipment. Fighting for Kaiden steps in when insurance denies a ramp to get up stairs or a second suction machine — most patients can’t swallow on their own — for travel. It also often buys We Carry Kevan packs, a special backpack designed by a man with SMA and his friends so they could carry him as the group backpacked across Europe. And it started doing Facebook Live streams to raise awareness and find ways to support caregivers, who can be increasingly burned out.

Children living longer is a blessing, but that doesn’t make providing 24-hour care for years easy.

“It’s a good problem to have, you want that problem,” Eakin said. “But at the same time, it’s like, how do we figure out how to keep going with this support?”

Sometimes, that still means the tiny chairs, though now they may only be needed for a few months before the treatment kicks in and children outgrow them. The big focus is on what those children will need next: “Bambinos,” 11-pound chairs flown in from the same Swedish company.

Eakin’s twins already use them to get around, swerving between video games and Lego sets. A shipment of 17 more arrived this month. Eakin’s waiting list has only a few people, but once she posts they’re available, she expects they’ll all find homes rather quick.