A black and white photo of a mother hugging a child on a bed

Julia Vitarello ’99 and her daughter, Mila, from her photo journal, This is Today. Of the moment portrayed in this photo, Julia writes : "At the beginning of the day, I sit Mila on the edge of her bed and wrap my arms around her. Love and warmth quickly turn to fear and pain. I want to run, but I stop. Instead, I lower the protective wall inside me and allow my emotions to unravel." 

When Julia Vitarello’s once healthy, outgoing daughter, Mila, was diagnosed in 2016 with Batten disease, a rare and uniformly fatal genetic disorder, her first reaction was not overwhelming sadness or fear, but relief.

“Until that day,” says the ’99 alumna, “I had spent years visiting specialist after specialist and trying to make sense of an increasingly worrying set of symptoms. Most of these experts seemed incapable of looking past their area of focus, and they all told me that the problems were minor and that she’d grow out of them, even though it seemed clear to me that something more serious was happening. So at first, it felt like an enormous weight was lifted to finally have an answer.”

Mixed with relief, however, was a piercing devastation. Batten disease is a neurodegenerative condition characterized by a progressive loss of function and early death, often within a few years of when symptoms first appear. Children with the disease are usually born healthy, but then start to experience seizures, vision impairment, cognitive decline, and a host of other problems that require round-the-clock care and place a tremendous burden on their caregivers. It is like caring for a person with Alzheimer’s, Parkinson’s, epilepsy and blindness, all at the same time and in a young child.

The diagnosis was daunting, but it also provided Vitarello with a definite direction and clarity of purpose. For the first time, the problem had a name and shape, and her life had a new mission: to do everything in her power to find a solution to a seemingly insurmountable obstacle.

Vitarello’s subsequent efforts catalyzed a series of medical breakthroughs and an entirely new model of drug development. It’s no exaggeration to say that her efforts may transform the future of medicine.

A black and white photo of of mother caring for a young girl lying on a bed

"I became Mila's nursing aid and worked shifts in a memory care facility," Vitarello writes. "A woman in diapers, photos of Paris in the '60s above her. A man spoon-fed, a law degree and framed mountains he climbed on his dresser. I left in silence, saddened for the souls in limbo, trapped in broken bodies, broken minds." 

I discovered Vitarello’s work after my first child, Arihai Emanuel Greene, was diagnosed in January 2022, at 5 weeks old, with Prader-Willi syndrome (PWS), a genetic disease that often leads to debilitating developmental, cognitive and behavioral problems. The diagnosis set me off on a journey to figure out how best to manage his condition—and to cope with the shock of so many shattered expectations about parenthood.

As part of this journey, I stumbled upon RARECast, a podcast that features interviews with leading voices from the genetic disease community. A few months later, Vitarello happened to be one of the guests. As she described her quest to diagnose and treat her daughter, my ears perked up when she made an offhand comment about how her best friend from Amherst College, a physician in Boston, helped connect her with the researchers at Boston Children’s Hospital and Harvard Medical School who tried to save her daughter.

One of Amherst’s best qualities is its cohesive and diverse alumni network, and Vitarello’s comment got me thinking about how the Amherst community had supported me in the months since my son was born. Like Vitarello, I had several alumni friends with formal training in medicine who counseled me through difficult decisions. Among them were Dr. Juliet Tan ’08, a pediatrician who gave me pointers on how to navigate the healthcare system in Singapore, where we both live, and Dr. Josh Shak ’06, a former housemate from the Zu, who acted as a sounding board at many critical stages.

Vitarello’s story and mine had other similarities, too. For starters, we were each dealing with a condition that is not widely known to the general public. The FDA classifies a disease as “rare” if fewer than 200,000 people in the United States—approximately 1 in 1,600—have it. In the case of PWS, the best estimates suggest that roughly 1 in 15,000 children in the U.S. have the condition; for Batten disease, that number is closer to 1 in 30,000. As with many other genetic diseases, PWS and Batten also have multiple subtypes, each with unique features and clinical progression. Mila’s ultra-rare type of Batten disease has been diagnosed in fewer than 100 people worldwide.

Neither has a cure, and treatment options are extremely limited. This is the case for roughly 95 percent of the more than 10,000 rare genetic diseases that have been described in the medical literature, according to the research and advocacy group Global Genes. Even as advances in diagnostics make genetic conditions easier to identify and characterize, drug and device developers often lack the economic incentives and data necessary to create treatments for such small patient populations.

That’s part of why parents and caregivers of children with rare diseases often form patient advocacy groups. These groups are a way to pool resources, fund research and generate clinical data. For both PWS and Batten disease, nonprofit groups have been working on such activities for years, driving toward clinical trials for new medicines. Yet such collective efforts often take many years—and rarely make it to trials. Even when they do succeed, funding for drug development and insurance to cover these treatments is typically limited, so the astronomical cost of care falls disproportionately on families.

By the time Vitarello got her daughter’s diagnosis, Mila was deteriorating quickly and the clock was ticking, so Vitarello decided to bypass the existing groups and take matters into her own hands. Despite having no formal training or professional experience in health care, she transformed herself into an internationally recognized advocate for rare disease research, successfully raising millions of dollars to fund development of an individualized medicine tailored to the unique genomic signature of her daughter’s condition.

Scientists tested this drug treatment through what’s known as an N-of-1 study. This is when an entire clinical trial has only one patient. In this case, that patient was Mila.

A black and white photo of a woman and a doctor standing next to a hospital bed in a hallway

Vitarello shares the story behind this photo: "Today, Mila received milasen. It was not in time for her, but she was the lucky one. I feel the presence of the 60 million children around the world who will die before the age of 5 from a rare disease, who will never receive treatment. My fight for Mila is now a fight for them." 

When Mila was diagnosed with Batten disease, at age 6, her test results presented a puzzle. Batten disease is what geneticists call an autosomal recessive condition, meaning that both parents are silent carriers of an abnormal gene that may not impact their health directly, but which can have serious consequences if both copies of the gene are passed on to their child. However, while Mila showed clinical symptoms of Batten disease, tests detected only one copy of the mutated gene. To uncover the exact nature of the disease, scientists would have to sequence her whole genome, a process that would involve interrogating Mila’s DNA with a level of precision that standard tests don’t reach. At that time, this option was slow, costly and available in only a handful of specialist centers.

Back then, Vitarello was living in Colorado and taking a break from the professional world. A political science major at Amherst, she had spent her 20s in Italy working for the motorcycle manufacturer Ducati and the Olympic Committee for the Winter Games in Torino. Now she was raising her children, Mila and 2-year-old Azlan. “I was fortunate to have that time with my kids,” she recalls, “and particularly to spend so much time with Mila when she was a healthy little girl, hiking, skiing and singing her favorite songs with her friends, before the symptoms came on.”

Within weeks of the initial diagnosis, Vitarello launched the nonprofit Mila’s Miracle Foundation to help fund research and develop treatments for her daughter’s disease. She knew that she’d need a more precise diagnosis to effectively direct her efforts, and that she’d need to test her son for the disease, so she turned to social media, writing a plea for help. Her post landed in the feed of her college best friend, Dr. Jessica Flynn Deede ’98. They had met on the Amherst lacrosse team but had fallen out of touch after graduation, except on social media.

Deede connected Vitarello with Dr. Timothy Yu, a clinician-researcher at Boston Children’s Hospital and a Harvard professor. Yu runs a lab that studies childhood genetic diseases that have difficult-to-find mutations. His team worked long hours to uncover the genetic quirk behind Mila’s specific form of Batten disease. The timing was fortuitous. A class of medicines known as antisense oligonucleotides, or ASOs, were beginning to show promise in the fight against spinal muscular atrophy, another rare neurodegenerative genetic disease. This posed an intriguing question: Would it be possible to reprogram an ASO to act on the portion of Mila’s genome that was causing her disease, even if it seemed she was the only person in the world with that specific mutation? This was the first time doctors had ever tried such an approach.

“We were racing against time for Mila, as she was losing her abilities by the month,” says Vitarello. “Within a year of coming up with the idea, Dr. Yu and his team had put in place everything we needed to give this a shot—from designing the compound to manufacturing a very small batch to conducting all the necessary safety studies, and the FDA greenlit the therapy and allowed Mila to receive the medicine.” The result was the first genetic drug in the world ever created for a single patient. They named it milasen.

In 2018, Vitarello moved with her family to Boston to begin treatment. Mila had been having dozens of seizures a day, but after starting on milasen, the number and intensity of seizures decreased substantially. Some days, she had none at all. She returned to eating pureed foods by mouth instead of through a tube, sitting more upright and lifting her feet higher to take steps. She smiled and laughed more often at songs and books. This raised hope that milasen could effectively stave off further progression of the disease.

For about a year, the treatment appeared to extend the duration and quality of Mila’s life. But the effects of Batten disease eventually took over. Mila died in 2021, at age 10.

For many parents, that would have marked the end of their search for a medical treatment. Vitarello, however, kept going.

Most medicines are designed and regulated to serve many patients at once. Even as pharmaceutical companies pursue “precision medicine”—in which treatments are tailored to genetic mutations in specific subsegments of a population—most still seek economies of scale to justify the considerable costs and risks in bringing a drug to market.

Rare-disease medicines that serve only a few thousand patients present unusual challenges. In the absence of large patient cohorts that can be recruited for clinical trials, regulators may struggle to review and approve these treatments. Even when they pass regulatory muster, these medicines are often particularly expensive and not covered by insurance.

Creating an individualized medicine for a single patient takes all these challenges to a new level. Even so, determined scientists, biotech entrepreneurs and patient advocates like Vitarello are searching for ways to streamline and scale up the production of individualized medicines. In addition to ASOs, they are exploring approaches such as RNA therapeutics and gene-editing technologies.

“What makes this individualized approach to medicine different from how we’ve faced disease in the past is that we now have the ability to find the underlying genetic cause of disease—in Mila’s case, a single mutation—and target it,” says Vitarello. Treatments like ASOs allow researchers to “simply swap out the design sequence for each patient, and the rest of the process stays the same. This is a big deal—a programmable approach to curing disease. Many consider it to be one of the biggest changes in the past century.”

A black and white photo of a woman on stage giving a presentation to a large audience

“Last summer, Azlan joined me for the first time as I presented on Mila and individualized medicines," Vitarello recalls. "As he stared up at the huge screen and watched himself laugh with his sister, he wasn't sure he wanted to stay. But he did. I realized then that this story is just as much his as it is mine." 

Today, Vitarello runs Mila’s Miracle Foundation from her home in Longmont, Colo., near Boulder. The foundation helps drive the emerging field of ultra-customized medicines. She also co-founded the N=1 Collaborative (N1C), which has a similar mission. “We are building an international neutral hub where academics, industry, regulators and patients are working together to set standards and best practices for the new field of individualized medicines,” she says. “Our goal is to rethink a drug development system that was never designed for this paradigm, and work toward a system that allows for individualized medicines to become routine worldwide.”

N1C is gaining traction. Its hundreds of participants worldwide include many of the top academic researchers in the field and a growing number of industry professionals, and it is tapped into global philanthropic funding. “I want to get from Mila to millions,” says Vitarello. “When I think of the tens of millions of children around the world who will die from a genetic disease in the first few years of their lives, I feel a sense of urgency and responsibility. We have the technology to treat an enormous number of children like Mila with an individualized approach, but our system makes access nearly impossible.”

Rare diseases are individually rare but collectively common, with an estimated 400 million patients worldwide. Roughly half of those are children, and nearly a third will not live beyond their 5th birthday, according to Global Genes. Since Mila’s treatment, a handful of other children have had custom drugs made for them. Vitarello hopes that costs and barriers will come down so the approach can scale.

As a parent of a child with a rare genetic disease, I am inspired by Vitarello’s efforts. For the sake of my son and the hundreds of millions of others with genetic diseases, I am hopeful that her work will drive progress in our understanding of and ability to treat people with these conditions. The challenges of rare diseases are monumental and complex. Addressing them will take persistent, long-term efforts of the sort that Vitarello is leading.

In the face of daunting odds and immeasurable loss, Vitarello pushes on. In many ways, she’s only just getting started.

Will Greene ’06 is a healthcare writer based in Singapore

Photographs by Jewel Afflerbaugh

A father holding a kissing a small infant

Getting the Diagnosis

Read blog posts by Will Greene ’06 and Julia Vitarello ’99 on coping with the children’s conditions.