A manifesto
From one rare parent
We are not supposed to be patient.
Almost everything in the rare disease world is built on the opposite assumption. The word patient means the one who waits, the one who endures, the one to whom things are done. I have been a rare parent for ten years and I have never met one of us who fits that description. We are the most active, most informed, most rigorous people in any room our child’s disease is being discussed. And we are seen as the least powerful.
This page is about why I think that is the central problem in rare disease, and what I am doing to change it.
01 / The experts
We are the experts.
I do not think doctors and scientists are smarter than us. They have spent years in one slice of one field. But our children are not slices. Every rare parent is running a longitudinal study with a sample size of one, twenty-four hours a day, for years. We see the patterns the specialist sees once a quarter. We see the medication interactions, the developmental shifts, the things that work and the things that do not. We are embedded.
The rare disease world treats that knowledge as anecdotal. It is not. It is the highest-resolution data on the disease that exists. We need better ways to capture it and articulate it.
02 / Patient burden
We are tired of patient burden for the sake of research.
Clinician-designed studies make us take long surveys and travel to specialty clinics. It is exhausting and unfair. And even when families can comply, those visits only capture a snapshot. Infuriatingly, most of the data goes nowhere.
The orthodoxy says clinical data is the gold standard. Anything else is a downgrade. I think that is wrong, and the people who say it loudest tend to be the people whose grants depend on it being true. The data we capture at home, in the lives our children actually live, is the disease.
The FDA cleared our gene therapy on a dataset built from records 101 families already had — with no new visits and no new burden on our kids.
03 / The lock
The class that holds the lock.
The NIH has few grant programs for patient-led foundations. Almost all funding flows to academic medical centers, where the grants are reviewed by physician-scientists, awarded to physician-scientists, and pay the salaries of physician-scientists. The same class advises pharma and runs the natural history studies. The methodology, the gatekeeping, and the funding all flow through one professional class. That is not a conspiracy. It is a closed loop, and it has failed rare patients.
I am not saying physician-scientists are bad. A few sit on our medical advisory board and have made our work better. But the system is doing what every closed loop does.
I know this not as theory but as data, because I ran the experiment. Our foundation funded multiple academic labs in our first years. Most of those grants went nowhere. The one that produced our gene therapy was led by Dr. Soo-Kyung Lee, whose daughter has the same disease as mine. Soo did not need to be pushed. She did not care about publishing a paper. She cared about a curative treatment in the shortest time possible.
Whoever holds the purse strings holds the timeline. When patient foundations hold them, cures happen faster.
04 / Ultra-rare
Ultra-rare is not unprofitable. It is badly designed.
Pharma says ultra-rare programs are not profitable because patient populations are too small. I do not buy it. The investment is too high because the playbook was designed for diseases with millions of patients, and pharma keeps applying it to diseases with thousands. When the FDA does not approve the drug, pharma blames the regulator or the patients — when the real failure was an evidence and drug development strategy that never matched the disease.
We built a different playbook. We hope to get through clinical trials from basic science in nine years for $22 million. The patient community size was not the bottleneck. The framework was.
05 / The ask
What I am asking.
I co-founded Citizen Health and the FOXG1 Research Foundation because the people best equipped to fix rare disease are the ones living it. We are tired and scared and out of our depth most days. But we are the ones with the data, the urgency, and the singular incentive. We do not have a quarterly earnings call. We have our kids.
If you are a rare parent reading this at 2 AM, the system was not built for you. The tools to take the wheel exist now. We need you to build the next ones with us.
We are not patient. We never were. It is time to stop pretending we should be.