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Every day I wake up thinking about how to get gene therapy to the children who will benefit from this breakthrough treatment. Right after that I start thinking about how we will pay for it.

I am not a doctor or a researcher or an employee of a biotech company. I’m just a mom who, through a set of unfortunate circumstances, had a front-row seat to one of the biggest medical breakthroughs in a generation: FDA approval of the first gene therapy to treat an inherited disease. This milestone was rightfully the cause for celebration by the scientists and doctors and patients who have worked for decades to develop treatments for hundreds of disorders caused by a mutation in a single gene.


But the victory lap didn’t last long, cut short by Spark Therapeutics’ announcement that it was setting Luxturna’s price tag at $850,000. Now it’s time to face the next challenge for gene therapy, which might be bigger than learning how to repair genes: figuring out what it should cost and convincing politicians and insurers to pay for it.

It might also become harder to convince biotech companies to invest in this kind of work after Goldman Sachs analysts suggested that gene therapy cures could be bad for business in the long run.

My advocacy for gene therapy dates back to July 5, 2012. That was the day a neurologist at Children’s Hospital of Philadelphia explained how my 2-year-old daughter, Cal, had late infantile-onset metachromatic leukodystrophy (MLD). It is caused by a single faulty gene that she inherited from both my husband and me. The genetics counselor explained that Cal had won the worst sort of lottery: MLD affects 1 in 100,000 children.


This genetic error causes fats known as sulfatides to accumulate in Cal’s cells. As they build up in cells that make myelin, the substance that insulates and protects nerves, they destroy tissue throughout the brain, spinal cord, and other parts of the nervous system.

At the time, there was no cure for MLD, and Cal was not expected to live beyond the age of 6.

A few days after the one-year anniversary of Cal’s diagnosis, Dr. Alessandra Biffi and her colleagues at the San Raffaele Scientific Institute in Milan, Italy, published a report in Science magazine about a revolutionary gene therapy for MLD. Biffi’s team had hoped the therapy would lead to a milder form of the disease. But some of the children who underwent the treatment were not developing MLD at all — a miracle to them and their families.

Cal once ran and read books and ate macaroni on her own. By the time we learned of the Italians’ breakthrough, she had stopped talking, could not see, and was essentially paralyzed. She gets nourishment through a feeding tube, and receives hospice care.

To help us cope with our grief, friends and neighbors started hosting bake sales to raise funds for fighting MLD. The first event raised $9,000. We weren’t sure what to do with it. Dr. Amy Waldman, Cal’s neurologist at Children’s Hospital of Philadelphia, made a suggestion that would change all of our lives. After reading the report by Biffi and her colleagues, she recommended that we help families get to Milan for the ongoing MLD gene therapy trial there.

Gene therapy works only to prevent the disease. Once symptoms appear, it can’t reverse the damage to the brain and central nervous system. “So how can we help other people’s children when Cal couldn’t be saved?” I asked Waldman. She explained that, since there is no newborn screening test for MLD, the birth of a child with the condition is a signal to test any other children the parents have later. So every child eligible for the gene therapy trial is a younger sibling of a child living with MLD.

A year later, when Cecelia Price from Omaha, Neb., was diagnosed with MLD because of her older sister’s diagnosis, the foundation we started was able to help send her to Milan to take part in the trial. Since then, we have sent 10 children to Italy: five from the U.S., two from the United Kingdom, one from Australia, one from Ireland, and one from Switzerland. Some of them now play baseball and soccer, attend school, and lead remarkably healthy lives. These children, who have outlived their siblings with MLD, became our investments in a miracle.

Gene replacement therapy was first used in 1990 to treat 4-year-old Ashanti DeSilva, who was living with a deadly disease known as severe combined immunodeficiency. This type of therapy, which was poised to take off, came to a screeching halt in 1999 after the death of 18-year-old Jesse Geisinger in a gene therapy trial at the University of Pennsylvania.

Nearly 20 years later, it is poised to make a comeback, a welcome development for the millions of people around the world with diseases caused by caused by single gene mutations.

Gene therapy might be a miracle, but it is not a cure. The best way to describe gene therapy is that it slams the brakes on diseases to prevent patients from getting sick or to mute the impact of the disease. Luxturna does not cure blindness, but transforms patients’ lives so they can read without Braille, attend school, hold a job, and live independently. We still do not know how long the therapy lasts. In the best-case scenarios, children with gene therapy remain stable and without symptoms, or only mild ones, for years and ideally over a long life. Ashanti DeSilva is now 30 years old.

I hope to see the number of safe, successful gene therapies grow. As that happens, I’ll probably worry less about getting it to the children who need it and more about how we will pay for it.

I spend more and more time sending emails and making phone calls imploring insurance company executives to get ahead of the cost and access challenges for gene therapy and collaborate with payers, providers, patients, and pharmaceutical companies so we ensure gene therapy gets to the patients who need it.

Spark, to its credit, has announced three programs to help reduce the cost of Luxturna.

When politicians and the punditry accuse pharmaceutical companies of “getting away with murder” for the prices they charge for new therapies, as President Trump has done, you need to remember what these therapies can do for the children who get them. In the case of MLD, kids who should be in wheelchairs and too sick to attend school now run and play and have friends and blow out the candles on their birthday cakes, all thanks to a likely expensive gene therapy. (Gene therapy for MLD is still experimental; no price has yet been set.)

I’m not a health policy expert, so I don’t know how much these drugs “should” cost. But I do know that miracles are worth paying for.

Maria Kefalas is a professor of sociology at Saint Joseph’s University in Philadelphia and co-founder of the Calliope Joy Foundation. She writes about her work as a patient advocate and her experiences with MLD at The Calliope Joy Foundation blog, and is working on a memoir about her life as a patient advocate, to be published by Beacon Press in 2020. She reports that Spark Therapeutics made small donations to the foundation in 2017 and 2018.

  • Really? Publishing an article by someone clearly, admittedly unqualified to talk about this topic, but who just so happens to sing the tune of a corrupt, thieving pharmaceutical industry?

    I so happen to know the cost of gene therapy. Much of the ground breaking research being done is funded by state and charity money – *NOT* investment from pharmaceutical corporations. The actual costs of producing these therapies for patients is often CHEAPER than conventional, existing treatments.

    These corporations buying up this research spend most of their money buying off media, legislators, and producing “consortiums” to sell the notion that a 1 million dollar price tag is worth it because these therapies produce “miracles.”

    It’s simple profiteering, enabled by publications like STAT that sell desperate and ignorant mothers advocating that the public be put through the wringer to access treatments they ALREADY paid for either through donations to charities or through their tax dollars.

  • In the Spring of 2015, I wrote an article about what gene therapy and stem cell treatment for retinal diseases might cost and how the healthcare system might pay for these treatments. It was published in the UK-based The Ophthalmologist. Here is a short description and a link to the article:

    What will Ophthalmic Gene Therapy and Stem Cell treatment cost and how will we and the healthcare system pay for it?

    With the likelihood of a gene therapy and/or a stem cell treatment for retinal diseases to be approved for marketing within the next two to three years, it is time for the ophthalmic community – the suppliers, practitioners, patients and payers – to start thinking about how much these regenerative medicine treatments are likely to cost, and how patients and the healthcare system will pay for them.

    In The Economics of Gene Therapy, I propose a pricing model for Regenerative Medicine in Ophthalmology, based on the population of patients to be treated, and suggest that an annuity program model, based on performance and duration of efficacy, could be used to pay for it.

    Let the dialogue begin.

    To read all about it, please follow this link:

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