When Casey McPherson became a father, his purpose became clear. He needed to raise his daughter, Rose, to be loving, courageous, healthy and strong. He needed to protect her.
Many parents can empathize with that desire to keep their children safe. So when the pediatric neurologist told McPherson that infant Rose had a rare genetic disease—so uncommon that it didn’t even have a name—parental instinct kicked in. And when the doctor said, “There’s nothing we can do,” that instinct sharpened.
McPherson was going to do something, even it meant venturing into uncharted territory.
“Rose was being attacked, but there wasn’t a monster for me to kill or a car for me to throw myself in front of,” McPherson told Newsweek. “It was just one little nucleotide in the gene. And if that’s the monster for me to kill, then that’s the monster I’m going after.”
Rose, now 9, and McPherson, 46, fight against that “monster” disease in little ways each day. Their home in a suburb of Austin, Texas, is “Rosie-proofed,” as McPherson says: She sleeps in a special bed equipped with barriers to keep her from wandering off, and a video camera, as well as oxygen and pulse monitors, scan for signs of seizures during the night. Rose doesn’t have the restraint of a neurotypical 9-year-old, so chemicals and electronics are kept behind three levels of locks. She takes seizure medication twice a day, and goes to a private school for children with special needs (paid for out of pocket, because there was a 15-year waiting list for any sort of financial assistance). Since Rose can scream and make loud noises, the McPhersons don’t take public outings often.
But Rose’s dad also fights for her in big, public ways. Before, McPherson was known as the frontman of the alternative rock bands Alpha Rev and Flying Colors. After Rose’s diagnosis in 2016, he took on a new role as a founder, launching the non-profit To Cure a Rose Foundation, the contract research organization, Everlum Bio, and—most recently—the public benefit corporation AlphaRose Therapeutics. All three seek to find and fund cures for children with exceedingly rare genetic diseases, like Rose’s.
McPherson is among a rising number of parents, spouses and patients seeking cures for their loved ones’ (and their own) rare diseases. Many of them are not scientists or doctors.
But that, many told Newsweek, is their edge. Scientific research is siloed, sluggish and laden with red tape. Those that understand the intricacies of medicine see certain research undertakings as impossible. Those that have a loved one with a rare disease don’t see any other option. They aren’t taking “no” or “slow” for an answer.
Why are rare disease patients entering the research arena?
In the United States, between 25 and 30 million Americans live with a rare disease, according to the National Institutes of Health (NIH). There are more than 10,000 rare diseases that we know of, and combined, they affect 1 in 10 Americans.
To put it into perspective, the National Organization for Rare Disorders estimates that one person on every elevator and four people on every bus are afflicted. Each condition only accounts for a small segment of the population, but combined, they touch a significant share.
Generally, a rare disease is categorized as one that affects less than 200,000 Americans. Some only affect a few hundred people, which makes it difficult to secure limited research funding and fill clinical trials.
“If we go one disease at a time with the timeline of drug development, it’ll be generations and generations of rare diseases before we have a substantial number of treatments,” Dr. Dominique Pichard, director of the NIH’s National Center for Advancing Translational Sciences’ (NCATS) division of rare disease research, told Newsweek.
Less than five percent of known rare diseases have FDA-approved treatments, Pichard noted. “We need to think of better ways to solve the problem of getting treatments to those patients.”
In her role at NCATS, Pichard works to create funding opportunities that solve some of these challenges. She aims to take a “platform approach” to rare disease research, similar to the one used in oncology. Cancer itself is not considered rare, but many individual cancers are. If oncology researchers looked at one subtype at a time, progress would have been slow—but by grouping cancers together and targeting shared pathways, they’ve have been able to multiply the impact of each investment.
That kind of adaptable, disease-agnostic framework is what Pichard hopes to replicate in rare disease research.Conditions with different names and presentations could still share biological mechanisms. If those links are discovered, limited resources could be stretched to serve patients with multiple rare conditions.
Patient advocacy groups have become increasingly vital to this work, according to Pichard. They’re laying the foundation for a platform approach by organizing data, fundraising for research, educating physicians and even gathering scientists to jumpstart the process. Social media platforms and video conferencing systems like Zoom have made it easier for patients across the country to mobilize.
“We recognize how important it is to have patients or patient organizations involved in the research, because they know the realities of these conditions,” Pichard said.
For many patient advocates, that disconnect between the scientific understanding of the disease and their own lived experience drives them to organize.
How do patient advocates advance research?
Jeanne Whiting and Marlene Portnoy are the co-founders of the Desmoid Tumor Research Foundation, and are celebrating the organization’s 20th anniversary this year. But the pair never could have anticipated their success when they met.
Whiting was a desmoid tumor patient, diagnosed in 2001. After Portnoy’s husband was diagnosed in 2004, the New Jersey-based women met one another on a listserv and decided to start a foundation. Chuckling, Whiting called that decision “naive.”
But there wasn’t much other hope to be found, they told Newsweek. Portnoy recalls traveling with her husband to four different medical institutions after a year of misdiagnosis. Each gave her a different protocol and said they didn’t know much about the disease, “which is really a terrifying experience for a patient and a caregiver,” she said.
Only about one percent of cancers are sarcomas, and more than 70 subtypes are housed within that single percentage point. While desmoid tumors are related to soft tissue sarcomas and are treated by cancer doctors, they are exceptionally rare, affecting only two to four patients in every million—so, many doctors aren’t equipped to treat them. When left alone, these locally aggressive tumors can grow massive, causing pain, swelling and even organ dysfunction.
Whiting and Portnoy became the organizing body and primary voice for the condition through their foundation work, hosting fundraising galas around the country and annual workshops for doctors and patients. They gathered experts to write the first consensus paper on desmoid tumors: an accord to standardize understanding across the medical community, which includes an algorithm to personalize treatment in sensitive cases.
“We were two women at their kitchen table, but we weren’t afraid to ask questions,” Portnoy said.
One of their most significant achievements came to fruition in November 2023, when the Food and Drug Administration (FDA) approved the first drug for desmoid tumors. It wasn’t an easy journey. As early as 2010, Portnoy and Whiting were coordinating with researchers, the NIH, Pfizer and SpringWorks Therapeutics to advance the drug’s development. At one point, Pfizer decided to discontinue development—but the Foundation founders continued to push, rallying support with contacts in the research arm.
“We just kept calling and calling and calling,” Portnoy said. If they hadn’t, the medication may have never reached patients.
Josh Sommer is familiar with that type of persistence. He was an undergraduate engineering student at Duke University when he was diagnosed with chordoma: a rare bone sarcoma affecting the spine and base of the skull, diagnosed in one in a million people each year.
Like many rare cancers, chordoma was poorly understood with no available treatment beyond surgery and radiation when he was diagnosed in 2006. Only half of patients did well with these interventions, and the median patient survived for about eight years after diagnosis.
“As an 18-year-old, that was a pretty challenging statistic to be dealt,” Sommer told Newsweek, “and to make a long story short, I became determined to try to do everything possible to change those odds.”
Armed with “no useful background, other than a lot of eagerness and an inclination towards science,” Sommer recalls finding the only extramural NIH researcher working on the disease. Ironically, his lab was also based at Duke, and Sommer was offered a position.
Working in the lab was eye-opening, Sommer said. They didn’t have access to mouse models, tumor tissue, cell lines or sufficient funding. Plus, they were working in complete isolation, so the going was slow. At one point, the lab requested cell lines from other investigators around the country—and two of the models that came in were not actually chordomas.
“If you’re not studying a reliable model of the disease, your results are not going to lead to better treatments,” Sommer said. “In fact, it could have the opposite effect. So it was very evident the field was not self-correcting or solving this problem on its own.”
Around 2008, Sommer left the lab to start the Chordoma Foundation, aiming to create the proper conditions for meaningful research. Since then, the Foundation has built a research infrastructure, woven together a community, organized philanthropic donations and mobilized volunteer “peer guides” to help chordoma patients navigate their diagnosis. It has helped get dozens of therapies into clinical trials, and initiated discovery efforts to develop drugs that target a gene known as Chordoma’s “achilles heel.”
Even with an established structure, there’s a limit to how far research can go in traditional systems, Sommer said. Tremendous discoveries emerge each day for more well-known conditions, but those big wins can act as blinders, directing focus away from the smaller, less profitable populations.
“There are certain things that just are not incentivized within academia or industry, but nonetheless are important to do,” Sommer said.
How do patient advocacy groups influence clinical trial recruitment?
One of those barriers to rare disease research is clinical trial recruitment. With such uncommon diseases, it can be challenging to find enough patients that are willing to participate.
In the early stages of research for that desmoid tumor drug, the National Cancer Institute estimated that it would take years to fill a trial given the low diagnosis rate. But thanks to the Desmoid Tumor Foundation’s connections, the study was filled in less than five months.
Jeanette Cesta, executive director of the VWD Connect Foundation for severe von Willebrand disease (a rare, inherited bleeding disorder that requires many patients to give themselves multiple infusions a week), has noticed a shift in her communications with research companies. A few years ago, Cesta—who founded the organization as a VWD patient with three VWD children—used to “aggressively” contact international board members and research organizations to get the latest updates on the disease.
“Now, when new products are being looked at for VWD, they’re contacting us,” Cesta told Newsweek. Oftentimes, they come to the foundation before even writing the research protocol, hoping for insight into patients’ pain points.
“These companies are realizing if they fail to understand the patient experience and don’t understand what’s valuable to the patient, they’re never going to inspire that patient to participate in the clinical trial,” Cesta said.
Scientists’ engagement with patients is a step forward, but it doesn’t guarantee enrollment in rare disease research. Less than 10 percent of individuals with the rare nervous system disease amyotrophic lateral sclerosis (ALS) take part in clinical trials, according to a 2024 NIH report.
When surveyed, 78 percent of ALS patients said they would participate in trials, but only 20 percent felt that they knew a great deal about them. Some individuals said they didn’t know where to find information about trials, while a quarter expressed fear about participation—and nearly 40 percent were concerned about the associated travel costs.
Siddu Tummala, the CEO of a Texas-based data and analytics company, was diagnosed with ALS in the spring of 2024. Not only is the disease physically debilitating, but “financially, it can be a wrecking ball,” he told Newsweek.
He also spoke of the emotional toll that comes with hearing a doctor say, “there’s no cure,” and knowing that the trial is unlikely to save them from ALS’ poor prognosis. Most patients survive between two to five years after diagnosis, losing control of their muscles as the neurodegenerative condition progresses. While patients may want to contribute to the common good, Tummala said, “they may not have the mindset right now, because this is a horrible disease.”
In the past year since his ALS diagnosis, Tummala says he met more wonderful people than in his previous 55 years of life. Yet he chronicled the collective frustration of his fellow patients, who know that research will get drawn out across decades that they don’t expect to see.
“It is not one organization which drives this research,” Tummala said. “Maybe that is inherently the problem. But unfortunately, it takes way too long [and] a lot of suffering on the way.”
What are the downsides of patient advocacy?
At NCATS, Pichard is working to educate the patient community on the drug development and clinical research process. The department hosts workshops and creates resources, like the Toolkit for Patient-Focused Therapy Development, a general guide that provides information gleaned from academics, industry professionals, government officials and other rare disease advocates to help patient groups traverse the complicated R&D (research & development) process. She hopes that this will prevent each group from having to “reinvent the wheel” as they start engaging in treatment discovery efforts.
The foundations themselves are also focused on education to make clinical trials less intimidating. At VWD Connect, Cesta teaches patients about research fundamentals: how long it takes to get a drug to market, what constitutes informed consent, the difference between blind and open studies. At the Chordoma Foundation, Sommer considers patient navigators to be game-changers. They spend hours walking patients through the clinical trial enrollment process.
“If I had a policy wand that I could wave, I would say, we need to be investing in patient navigators,” he said.
But there are no patient navigators for the patients and families that take that first step into the unknown, venturing into the complex world of grant writing and NIH funding. Although they find supportive scientists and doctors along the way, many patient advocates experience imposter syndrome as they work to build their organizations. Some even receive pushback and patronizing messages from professionals.
“You should see some emails that I have,” McPherson said. “I’ve had people tell me, ‘You’re a patient advocate. Stay in your lane.’”
“But what kept driving me was Rose,” he continued. “She’s waking up every day trying to learn the best she can, and she’s suffering through it all. Why can’t I do the same thing?”
McPherson’s efforts are paying off; AlphaRose Therapeutics has raised $1.1 million since January to hire a team of experts who are using AI research to develop treatments for genetic mutations and rare diseases. His team includes professional researchers from world-renowned universities and research organizations, and he recently visited Capitol Hill to advocate for patients with rare disease. Multiple rare disease bills have been introduced into Congress, aiming to simplify and incentivize the drug discovery process for uncommon conditions.
The work of patient advocates has led to extraordinary advances, but from her role within the NIH, Pichard can’t help but ponder the emotional costs. She, too, is a parent to a child with a rare disease, and at one point left government work to serve the International Rhett Syndrome Foundation.
The U.S. is ahead of the curve in patient advocacy efforts, Pichard said. The relative wealth in American society allows some families to kickstart projects, fund foundations and take chances.
But that can-do attitude and entrepreneurial spirit can also be “detrimental,” she said: handing the burden of a diagnosis to a patient and their loved ones, then saddling them with responsibility for a remedy.
“[This work] is really important, but it has also created a pressure on families,” Pichard said. “They feel like selling their assets, quitting their jobs and learning science is the only way [their] child can get a cure.”
Not everyone has the network to raise $5 million, or the flexibility to start a biopharmaceutical company. Those that can—that do—hope their work will lift generations to come.
Eight-year-old Rosie cannot speak, but at night, McPherson lays down with her in their fall-proofed home. They lock eyes and truly “connect,” he said, sometimes for the first moment all day. He makes up songs for her, and they listen to music together.
“It started as a mission to cure Rosie, but what I realized is that Rosie gave me a mission to change the lives of so many more kids,” he said. “A bad card dealt to her and to our family became a purpose, that we could turn her pain into something.”
He hopes that years from now, another little girl and her dad will walk into a clinic, and the doctor will say, “we have a drug for you.”
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