The meeting could determine whether the two young siblings would keep going blind. The doctor knew that going in, but he was feeling good. He’d negotiated huge discounts before, allowing patients to get complex surgeries or budget-busting drugs they otherwise couldn’t afford. And his last two conversations with Spark Therapeutics had been promising.

Then again, at $850,000 a person, Luxturna was more budget-busting than just about any other drug. Spark had proposed a few different ways of helping insurers to cover the gene therapy — but Dr. Kevin Strauss’ patients tend not to have insurance. As the medical director of the Clinic for Special Children, on the outskirts of Strasburg, Pa., he mostly sees members of the Plain community: Old Order Amish and Mennonite families, who believe that caring for the sick and the elderly is a community’s responsibility. Relying on governments or private companies to step in is considered a serious moral breach. They don’t want medicine for free. They just want to pay the reduced prices that government and private insurers often do.

That’s the kind of discount Strauss was trying to negotiate for the siblings’ family. The two Amish girls have a mutation in the RPE65 gene, causing the specific form of retinal blindness that Spark’s therapy is designed to treat. There is no way the parents would get Luxturna for only one of them, while letting the other’s vision fade even further. But asking their congregation for $850,000 would already be a stretch; asking for $1.7 million would be unimaginable. The community just doesn’t have that kind of cash lying around.

“It puts the family in a tough position,” said Strauss. “They know that that is communal money — money that wouldn’t be available for the child who gets in a farming accident or needs a life-saving chemotherapy.”

Their dilemma echoes one that is facing the country as a whole. The national outcry over the price of prescription drugs has reached a boiling point, with President Trump expected to lay out possible solutions in a speech this week. Spark has none of the sneering swagger that made Martin Shkreli everyone’s favorite pharma villain. But Luxturna has the highest price per dose of any medication so far. Spark argues that gene therapies take a dizzying amount of time and money to create, and that a single injection into each eye could potentially restore vision for the rest of a patient’s life. Executives also say they are doing everything in their power to make treatment accessible to all the patients who need it, but that hasn’t been everyone’s experience.

On March 15, three company representatives headed out to Strauss’ clinic in the cornfields. At an earlier meeting, two Spark employees had seemed excited at the prospect of getting Luxturna to the sisters for less money. Now, they were bringing along someone from the financial team.

“These other two guys had set me up to believe that they were going to go back and there was going to be all this enthusiasm,” Strauss recalled a few weeks later. “And the head of commercial was like, ‘No.’”

Spark officials told STAT that the company is still working to provide some kind of discount, but that they can’t make any promises or lay out any timelines. “Access to such a unique and new therapy may take time,” said spokeswoman Monique Da Silva.

“The family can break with tradition … and sign up for Medicaid. It’s a repugnant idea to them, but you’re choosing between that and watching your children go blind.”

Dr. Kevin Strauss, Clinic for Special Children

For now, Strauss feels that the parents have no good options. “The family can break with tradition … and sign up for Medicaid,” he said. “It’s a repugnant idea to them, but you’re choosing between that and watching your children go blind.”

He also knows there are other kids in the Plain community with the same genetic mutation. Their families are hanging back, using these two siblings as a test case to see whether it is worth even trying to get Spark’s therapy.

Amish Clinic
Laboratory technician Ashlin Rodrigues prepares DNA samples for analysis at the Clinic for Special Children, a nonprofit that has been serving the Plain community in Lancaster County, Pa., for nearly 30 years. André Chung for STAT

Anger over the egregious cost of medications is, it seems, one of the only things that everybody shares across party lines. During the 2016 campaign, it got Clinton promising, Trump crowing, and Sanders gesticulating in equal measure. So it might come as a surprise that families affected by inherited retinal degeneration often speak positively about Spark, a drug company that is selling a treatment at more than double the average price of an American house.

Partially, that’s because Luxturna represents a daring investment in rekindling vision for their kids. There are over 260 genes in which a mutation can give rise to retinal problems. More than 20 of them have been linked to the rare, severe degeneration that can cause childhood blindness. Luxturna can help correct the vision loss that arises from errors in a single one.

This specificity is the reason it works. Researchers spent decades learning to cultivate the gene RPE65 in the lab and then packaging it just so, with a virus that acts as a Trojan horse. Inject the resulting liquid into the retina, and the virus will sneak the healthy gene inside the nuclei of cells, where it can restore some ability to translate light into a chemical language that’s legible to the brain.

Advocates for other rare retinal disorders want to see the same kind of result for different causative genes, and they’re keeping close tabs on the economics of Luxturna. “If you set the price low then nobody’s going to want to invest in advancing the field. If you’re never going to recoup what you put in, then nobody’s going to come to CRB1,” said Kristin Smedley, the mother of two boys with CRB1-associated retinal blindness and the president of the Curing Retinal Blindness Foundation, which has received funding from Spark.

Smedley knows there’s a flip side to that argument. “There are just a few of us who can say, ‘I don’t care if my insurance will pay for it, I will find a way,’” she said. “It’s 90 percent of the people on these online communities who are saying, ‘How on earth are we going to pay for this?’”

Spark hopes to answer that question for them. After all, the company is gunning for the exact same outcome as these parents. Both parties want Luxturna covered. To do that, the company contracts directly with insurers, to avoid any potential markups a hospital might charge. If insurers agree to that, they can also potentially get up to 20 percent of the price back if the treatment does not work long term. The company can also help cover the cost of travel and copays. For those on government insurance, Spark is now negotiating coverage as well, and has proposed stretching out the payments over a number of years and potentially giving even higher money-back guarantees should the therapy stop working. But, as John Furey, Spark’s chief operating officer, told STAT, there is no intention to provide the treatment at a lower price.

Jack Hogan
Jack Hogan, 13, who was treated with Luxturna in March, was the first patient to get the gene therapy after it was approved by the Food and Drug Administration. Kayana Szymczak for STAT

When the therapy hit the market in March, Spark managed to realize what many patients dream about. Families got treatment without having to deal with their insurance at all. “Spark Therapeutics basically … worked with our insurance to get it approved. We’re not privy to all that happened, but it happened,” said Shawn Hogan of Fair Haven, N.J., whose son Jack was the first to get the gene therapy commercially.

Sarah Pettit of Mount Dora, Fla., whose son Creed got the therapy a few days after that, had set up a GoFundMe page, organized a school fundraiser with baked goods and games, and got donations from a private foundation, all to pay for whatever her insurance wouldn’t. But the cost of the gene therapy itself ended up being covered. “I have not had to do any of the footwork. It’s been wonderful,” she said of Spark. “That’s what they are offering, even if you just need a shoulder to cry on. … They’re there. They’re like this little saint helping guide you.”

But there are others who have commercial insurance — and a similar trust in Spark — who are still trying to secure the therapy. Julie Sovey is a case in point. Her 2-year-old daughter, McKinley, has the mutation that makes her eligible for Luxturna. Her neighbor in Wauwatosa, Wis., helped set up a GoFundMe page that has raised over $30,000. She doesn’t blame Spark for the high price. But she’s been awaiting a decision about insurance coverage for almost two months, and she’s worried.

“That’s … a little scary for us, just not knowing how much money we’re going to need to raise to make this happen,” she said.

Amish Clinic
The rolling landscape of Lancaster County, where the Clinic for Special Children uses cutting-edge technology to speed the diagnosis and treatment of genetic disorders. André Chung for STAT

Like many close-knit groups descended from a small number of founding families, the Plain community has a relatively high proportion of genetic disorders, and Strauss has seen a wide array since arriving at the Clinic for Special Children in 2001. He’s cared for kids with maple syrup urine disease and Ellis-van Creveld syndrome, spinal muscular atrophy and glutaric acidemia. But he didn’t know that there was any retinal blindness caused by errors in RPE65 until he met someone working for Spark.

The company had been in touch with the family while Luxturna was still an experimental treatment, and in the fall of 2017, when Food and Drug Administration approval seemed likely, representatives wanted to figure out how these girls could get the therapy as soon as it hit the market. They turned to Strauss, setting up a meeting for Oct. 10.

The Clinic for Special Children is about an hour-and-a-half drive from Philadelphia, where Spark is based. You pass through fields that rotate corn and soy and alfalfa, some stretches of tobacco, the occasional watermelon patch. The building itself — a traditional post-and-beam structure, hoisted up by hand — is slightly hidden from the road by a stand of trees.

In the third-floor conference room, Strauss told the two Spark liaisons that patient privacy rules prevented him from independently reaching out to the family. But over the next few months, the father would begin an email correspondence, and Strauss would go from stranger to advocate.

It was a role Strauss had played before, in part because he has a foot in two different worlds. The communities he works with have been opposed to the idea of insurance for so long that, since 1968, they have been some of the only religious groups eligible to file IRS Form 4029, which exempts them from paying Social Security and Medicare taxes — and makes accepting any kind of health insurance a violation of federal law.

Their kids are still technically able to access Medicaid, but it remains taboo. Often, to pay for big medical expenses, the community simply pools money, with a church committee responsible for collecting and doling it out.

Strauss knew that many families would negotiate discounts in exchange for paying the whole cost up front. He also knew that these discounts were relatively small, compared to one that a government insurer like Medicaid might get, and he thought he could do better.

“The Amish and Mennonite want to pay something, they just don’t feel it’s fair to be paying more than what Medicaid is paying, and I agree with them,” he said.

At Lancaster General, he encouraged his patients to enroll in a pre-established program through which the hospital could grant steep discounts and get tax breaks in return. At other centers, like Children’s Hospital of Philadelphia, he negotiated new agreements, each deal helping him to secure the next.

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At Geisinger’s Janet Weis Children’s Hospital, in Danville, Pa., it was a kid with Ellis-van Creveld syndrome who was the catalyst. The baby had gotten nearly half a million dollars in care — he’d needed prolonged mechanical ventilation, and heart surgery, among other treatments — and Dr. Frank A. Maffei, the director of pediatric critical care, was on the phone with Strauss about the case.

“He reminded me, ‘Frank, we really appreciate the care, but it’s going to cause these communities to be burdened with an incredible financial cost,’” Maffei said. “I said, ‘These are our neighbors,’ and Kevin said, ‘You’re absolutely right, these are your neighbors, but they’re driving past your hospital.’ I think for me, that was the tipping point.”

The resulting discounts — just for Strauss’s patients in some cases, for the entire Plain community in others — reduce the cost of care by 70 to 90 percent, he said.

Strauss has done similar work with drug companies, helping community members sign up for patient access programs. Spinraza, Biogen’s spinal muscular atrophy drug, normally costs $750,000 the first year, and then $375,000 every year after that. Now, 16 patients at the Clinic for Special Children get it for free.

Amish Clinic
Strauss chats with a patient who has a rare genetic disorder and his family at the clinic. André Chung for STAT
Amish Clinic
The building that houses the clinic was raised in the traditional Amish style by the community. The beams and other supporting structures were put together without nails and completely by hand. André Chung for STAT

Not long after Luxturna was approved and its price announced, Strauss met again with representatives from Spark. He took them to Isaac’s, a local Lancaster chain where you can get a sandwich on a soft pretzel roll.

As they ate, they talked about the case and the implications of Form 4029. Strauss felt that anyone who could produce the government form for Spark should get the drug for nothing — or at a discount of 90 percent. The others, he said, seemed enthusiastic about the idea.

They came back in mid-March, this time with their chief commercial officer. But now, the excitement was gone. The team from Spark wanted to help get the two kids signed up for Medicaid. Strauss explained that that was a violation of their religious principles. To him, it put the family in a near-impossible bind, choosing between an action your community sees as a moral failure, or the continued deterioration of your kids’ eyesight.

“It’s not really fair, ethically or legally, to ask these people to break that covenant with their church and the federal government in order to pay for these extraordinarily priced therapies,” he said later.

He’d already planned a visit with the family for the next week. They came in on March 20, the same day that Luxturna was being injected for the first time after its approval. “We had planned to have them come in because I thought we could give them great news that Spark had carved out a discount, and instead the message was, ‘Sorry, it costs $850,000,’” Strauss said.

When STAT first contacted the clinic, a few days after that, Strauss let Spark know that he would be speaking with a journalist about their discussions and the fact that they had reached an impasse. “There was a flurry of activity, but then nothing substantial came out of that,” said Adam Heaps, the executive director of the clinic.

To Spark, the kind of discount Strauss was proposing could jeopardize their whole business. Furey, the chief operating officer, explained that reducing the price for families in the Plain community could mean the company is legally required to give the same discount to those eligible for Medicaid and other government programs, and that that represents a large proportion of their already small pool of potential patients.

The company is exploring the use of Form 4029 to make it possible to provide a rebate for the Plain community without it affecting the amount the company charges government insurance plans.

“This is just another avenue of commercialization and patient assistance that we need to work through, and it’s impossible for me to put certainty around the conclusion of those discussions, or the timing,” Furey said.

Da Silva, the Spark spokeswoman, added that the company plans to “further assess our service offerings, including the possibility of providing free drug if all reasonable options to access therapy via insurance are unsuccessful.”

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Everyone involved has praised the company liaison who has been visiting the family and who first approached Strauss. The financial questions, though, ultimately fall to his higher-ups.

“The easy thing to do is to make Spark out to be the villain of the story, but it’s not that simple,” said Heaps. “I do wish they’d be a little more accommodating.”

Both he and Strauss know that developing these treatments takes a huge amount of time and money. They know that most in the world of biotech don’t make decisions with this secluded pocket of the American population in mind. But they’ve also looked into a database of the protein-encoding bits of genomes collected from the Plain community, and seen evidence of the other affected kids this family has told them about.

The talks with Spark, like those in Washington, are ongoing. It’s a strange kind of diplomacy to unfold in a rural clinic, trying to untangle the economics of something unquantifiable. The parents are still optimistic. They’re waiting, checking in with both Spark and Strauss, hoping some deal can be reached, hoping to restore their daughters’ sight.

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  • Thanks for this article.

    Seems to me that this type of problem ($$) can only be solved with government resources.

    I would expect the drug producer to petition (in this case) the FDA for $ subsidy during the product’s development to produce an affordable cost/dose. I would also expect that government NOT increase the cost/dose by negotiating discounts for larger programs like Medicaid, Medicare, etc.

  • The comments below regarding the beliefs of the Amish and some Mennonites represent outright religious bigotry and no understanding of the First Amendment and it’s religious freedom protections. I live near a large plain people population in Central PA near Geisinger Danville noted in this article. They pay for what they consume but do not believe in insurance or “mooching” off government programs. I could cite numerous immoral things done by mainline “churches”, in particular, but the Amish faith lives morality.

  • Unfortunately the gene pool is too small in the Amish community, so lots of recessive genes/abnormalities are coming to the fore.

  • Religion has not been helpful here.

    First it led the group into becoming an highly inbred community with severe rates of genetic diseases.

    Then it prohibited the most logical and useful paths to treatment.

  • The thing is, they want to do this their way. Not through Medicaid but around it, so to say. At some point they will be forced to choose between their extreme apartness from the society in which they’re emedded and the welfare of their children. My guess is the innocent kids will pay a terrible price for their elders’ beliefs which in my view will be immoral. Accepting help is not.

    • @Seth

      You are absolutely correct, Seth.

      It’s perfectly fine for any adult to say, “It’s against my religion to do certain things, so I accept going blind.”

      But it’s another matter entirely to say to a child, “It’s against my religion to do certain things, so I accept YOUR going blind.”

      What? Wait!

      I live in Boston, the location of the Christian Science mother church, and we occasionally put on trial Christian Scientists who have allowed their child to die because of the parents’ religious sentiments — even, in some instances, parents who receive medical treatments for themselves.

  • I am an MD geneticist in Canada and diagnose and treat children with rare and ultrarare genetic disorders. I found your article excellent and very informative — we face similar challenges in Canada Re reimbursement of drugs for rare and ultrarare disorders- the issues are diffrentbtgag the American scene, but equally heart-wrenching and complicated- solutions are there and the manufacturers no doubt are trying and do creatively work with our governments and private insurers in Canada to find solutions. One of the main stumbling blocks remain the rarity of these disorders and the lack of iron-clad evidence that the new therapies work or how do you know a therapy will work. We in the medical profession participating and doing clinical trials are trying to generate evidence so more drugs can get approved but many families and health care providers are not patient nor objective enough while waiting for ironclad evidence of
    effectiveness. Thank you.

  • “It’s not really fair, ethically or legally, to ask these people to break that covenant with their church and the federal government in order to pay for these extraordinarily priced therapies,” Dr. Kevin Strauss.

    sadly, there’s no such thing as fairness. is it fair these poor children are going blind through no fault of their own?

  • Great article. So frustrating. Let me ask, why does the Amish community have these genetic anomalies ? Is the incidence statistically greater than general population ?

    • Actually, yes. Because of such close intermarriage the Old Order Amish have a lot of Ellis-vanCreveld which causes polydactyly and achondroplasia (dwarfism), SCID, congenital heart disease. Dr. Holmes Morton at Harvard did a lot of research on it.

    • Chiming in from a scientific background and also a familiarity with isolated Mennonite communities in Kansas — I think genetic anomalies are more prevalent in the Amish, Old Order Mennonites, etc. because these groups because you tend to get somewhat of a “founder effect.” People within these communities have largely descended from relatively small anabaptist communities in Europe, and they often stay within small pockets in the US and usually are only allowed to marry those within their faith tradition. This results in a small gene pool without a lot of genetic diversity, increasing the chance for genetic mutations to occur. I don’t have anything solid to point to saying that their rates of genetic anomalies are higher than the general population, but I would suspect that they are. You would likely find this in other isolated communities that tend to marry within a relatively small population as well.

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