When John “Gungie” Rivera, a music and business impresario in New Jersey, learned that his energetic, four-year-old son, Cristian, had a rare, fatal form of pediatric childhood brain cancer called diffuse intrinsic pontine glioma, he searched for doctors who could alter the prognosis. Medical professionals did everything they could, but there was not — and still is not — a cure for DIPG.
Two years later, in 2009, after losing Cristian to the disease, Rivera founded the Cristian Rivera Foundation. He has remained committed to the quest for a cure for other children with DIPG ever since. “I work a minimum of 12-hour days, probably eight hours on the foundation and four hours on my own company,” Rivera said. “I downsized my company so I can volunteer for this foundation.”
Rivera stands out for how much time and money he’s invested in research for a disease that took the life of his child. But for almost all families of children with rare diseases, finding a cure can require funding research, at least partially, themselves. Rare disease is one area of medicine where private philanthropy, including by small-time donors, is instrumental.
Of the National Institutes of Health’s 2025 budget of nearly $50 billion, only a sliver — $31 million — went to the Rare Diseases Clinical Research Network, the congressionally authorized group of scientists, clinicians, patients, families and patient advocates focused on rare disease. The NIH also funds rare disease research in other ways, but given that there are more than 10,000 known rare diseases — only about 5% of which have any kind of FDA-approved treatments — the 30 million Americans living with a particular rare disease face a lot of competition for research dollars. (The final 2026 NIH budget is still being hammered out, as of this writing, and the current version does not include the president’s proposed 40% cut.)
On the institutional philanthropy side, small, parent-run rare disease groups sometimes get a windfall from a major foundation, such as when CureARS received $800,000 from the Chan Zuckerberg Initiative’s Rare As One program. But even with Rare As One, keeping the work going generally rests on parents raising money through 5Ks, golf outings and galas. The lack of interest in rare diseases by big pharma — with its incentives to prioritize more common conditions — puts even more pressure on private donors to fund research.
Against this backdrop, passionate, personally invested donors and advocates have helped support several major victories in the fight against rare disease in the past handful of months. These wins also serve as an important reminder of the power of personally motivated philanthropy in a moment of devastating federal dysfunction and destructiveness in so many arenas.
Private donors push research for pediatric brain cancer
Only about 4% of the federal government’s cancer research budget goes toward pediatric cancer. DIPG, which affects 200 to 300 kids a year in the United States, gets a sliver of that already small slice. The money is poised to get a lot tighter. The National Cancer Institute will cease funding the Pediatric Brain Tumor Consortium in March of this year, halting crucial, ongoing pediatric brain tumor clinical trials. “This is why saving the lives of children affected by DIPG is up to family foundations like ours,” said Rivera. The Cristian Rivera Foundation has donated more than $4 million to DIPG research and family support since its founding, making it one of the largest funders of this work.
“The money we raise is mostly from private donations; 80 to 85% comes from single, private donors. Another 15 to 20% from corporate donors, like Bank of America,” said Rivera. “We are supposed to be raising $2 million a year. Last year, we finally hit $1 million. We are able to give over $500,000 a year to two doctors and a bunch of families.”
In January 2026, the foundation announced its largest single gift since launching: $365,000 to Dr. Mark Souweidane, a pediatric neurosurgeon at Weill Cornell Medicine and codirector of the Children’s Brain Tumor Project, to advance research on DIPG and other childhood brain cancers. The Cristian Rivera Foundation has been the longest continual source of funding for Souweidane and his teams. “What these foundations have done is filled a gap in funding. Their level of importance is exaggerated today because the other sources of funding have largely evaporated,” he said. “They’ve always been present, but their role is more important today than ever.”
While DIPG remains incurable, Souweidane and his teams have made real progress. He currently has three patients who have lived longer than five years since their DIPG diagnosis. Median survival time with DIPG is between nine and 11 months; survival longer than two years is exceedingly rare. This milestone is due to a novel drug delivery approach that Souweidane devised with funding from the Cristian Rivera Foundation. “We refer to it as direct drug delivery. We are bypassing the blood-brain barrier, thus avoiding systemic toxicity and getting the drug in high concentrations to our target tissue, namely the brain tumor.”
From parent money to state support for Charcot-Marie-Tooth disease
We covered a promising, cutting-edge gene therapy treatment for the neurodegenerative disease Charcot-Marie-Tooth back in October, when the Charcot-Marie-Tooth Research Foundation (CMTRF) gave $800,000 to the nonprofit biotech firm Elpida Therapeutics to work on a gene therapy drug for an ultra-rare form of the disease called CMT4J. As we reported, that grant, combined with another grant from a volunteer-run, parent-founded nonprofit called CureCMT4J, allowed Elpida to manufacture ELP-02, the first-ever gene therapy drug for CMT4J.
This January, building on the work funded by those two grants, Elpida secured an $8 million grant from the California Institute for Regenerative Medicine to start a clinical trial of the drug, again a first. CIRM is a state agency approved and funded by California voters through a ballot initiative in 2020 that has allocated $5.5 billion to cell and gene therapy development. CMTRF cofounder, former CEO and current Chief Mission Officer Susan Ruediger said that the initial funding and advocacy by parents and patients helped pave the way for this CIRM grant.
“When a person living with a rare disease hears the price tag of $5 million to get a drug to market, that can be overwhelming. But it’s not incumbent upon the patient or patient group to fund the entire price tag. Our funding can be catalytic. It’s incumbent upon the patient to know the field and be the matchmaker,” said Ruediger.
Ruediger, a CMT patient herself, pointed to another drug in clinical trials that was shepherded to this stage by passionate private donors connecting the dots. At the 2019 Bio International Convention, the largest biotech gathering in the world, she learned about a company called DTx Pharma that had a promising delivery vehicle to get drugs to the peripheral nervous system, which is what CMT attacks. CMT wasn’t on DTx’s radar, nor did the company have peripheral nerve data. CMTRF gave DTx a $127,000 grant to test their delivery vehicle on mice engineered with CMT1A, the most common kind, and connected the biotech’s researchers to the foundation’s scientific experts. Half a year later, DTx Pharma had amassed enough research to land a small business grant of $350,000 from the NIH.
“Six months later, they had enough great data that they earned $100 million from life science venture capital,” said Ruediger. “Two and a half years later, they were bought by Novartis for $1 billion with the CMT case as their primary disease indication using their technology. We knew what the problem was. We partnered with the academics and the biotech firm to find a solution. That unlocked NIH money, and private equity and pharma money. That drug is now in clinical trials in Canada.”
Two big wins for mitochondrial disease treatment, powered by donors
This past year also brought exciting news for parents and patients confronting mitochondrial disease, again due to private donors and advocates. There are more than 350 known types of mitochondrial disorders out there, and until this fall, no cures for any of them. In September, the FDA approved an injectable peptide called elamipretide, marketed as Forzinity, created by the Massachusetts-based Stealth BioTherapeutics. The drug addresses the underlying dysfunction of Barth syndrome, a life-threatening mitochondrial disease.
This approval almost didn’t happen; the FDA had rejected the drug after multiple successful trials, asking Stealth BioTherapeutics to do more testing, which the firm said it could not afford. The drug was only approved after assertive advocacy by the United Mitochondrial Disease Foundation and the parent-led Barth Syndrome Foundation and MitoAction.
Two months later, in November, the FDA approved a second mitochondrial drug, Kygevvi, created by the Brussels-based biopharmaceutical company UCB. Kygevvi treats thymidine kinase 2 deficiency, an ultra-rare, progressive, frequently fatal genetic mitochondrial disease.
Both mitochondrial treatments, long in development, were funded, promoted and pushed by private donors, including many parents. As UMDF president and CEO Kristen Clifford said in a statement about the Barth syndrome drug, “It is only through generations of selfless patients and families who shared their stories, participated in clinical trials, advocated to legislators, and funded research — along with a passionate group of researchers and clinicians who answered the call — that we find ourselves here today.”
How NIH cuts impede research for rare disease
The uncertainty around NIH funding is taking a toll on rare disease researchers. “I’m seeing anxiety in the academics about how they are going to keep their labs and their programs alive,” said Ruediger. “We’re also seeing our clinicians who are also researchers having to spend more time in the clinic to keep their clinics open and keep their revenue streams coming in. So we’re seeing less research by these physician-scientists. The people who are truly just scientists and not clinicians have to follow the money.”
Following the money also can mean spending more time writing grants. “This is frustrating as a patient because we as patients don’t benefit from them writing grants; we benefit from them doing good science,” said Ruediger. “We want their time to be used on research.”
Another route researchers are taking: turning to patient groups to fill funding gaps — and not necessarily only for rare disease. “We haven’t changed our formula, but the rest of the world is changing theirs,” said Souweidane. “Now, that bucket of money from philanthropic sources is going to get more competitive. Will there be a shift in philanthropic dollars, or will there be an uptick in individuals giving? I hope it’s the latter,” he said.
We’ve covered one example of a sizable uptick: After nearly doubling its giving in 2024, the Sergey Brin Family Foundation continued to ramp up in 2025, granting $1.1 billion in total. The foundation’s 2024 donations included $281 million for Parkinson’s research, much of which went to the Michael J. Fox Foundation for Parkinson’s Research, and nearly $98 million to research on bipolar disorder, autism and other conditions of the central nervous system. The foundation also made major gifts for health research projects at UCSF ($68 million, five grants), Stanford University ($32 million, five grants), BD2 LLC ($20 million) and Broad Institute ($17.5 million). All of those grants but two are larger than the entire 2025 NIH budget for the Rare Diseases Clinical Research Network.
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Private money in patient cures: what parent funders bring that government dollars don’t
At IP, we’re concerned about the problems inherent in letting rich funders — rather than democratically elected officials — set the agenda on public good. But for a doctor working on a rare disease, “watching this in real time is a huge motivator,” said Weill Cornell Medicine’s Souweidane. “You feel as if, ‘I can’t give up because of John [Rivera], because of the next parent, because I don’t want to see this grief anymore.”
Souweidane said that Rivera has been the single most important contributor to his work on DIPG, year in year out. “We budget our work knowing that he will be there. I can’t think of a better partnership than with families affected by these diseases. If I had my druthers, all my funding would come from families because there is an emotional charge you’re not going to get from an NIH check.”
Ruediger said parents and patients can be uniquely suited to bring together stakeholders who might not otherwise meet. “We talk to the NIH. We know the academics working in the space. We are looking for the biotechs who might have technology related to our disease,” said Ruediger. “We bring all key opinion leaders to the table to say, ‘What is it going to take to get a drug developed for this disease?’
Parent funders and advocates also bring a unique perspective to medical research — their absolute resolve to find a cure, now, rather than also thinking about ROI or even other aspects of research, such as establishing good measuring metrics.
For Rivera, the mission remains clear. “We need to get more donations to Mark and the Children’s Brain Tumor Project so their work can accelerate. We need to raise enough money to fund research that will equate to a cure.”
