Why fund cures you won’t pay for?

Estimated reading time: 6 minutes

“Rare disease parent and charity founder. I’ve been in this world for 15+ years and seen the good, the bad and the ugly of this world. But I will never give up on our collective mission to improve things for the rare disease community and I’m proud to say that things are a lot better than our first foray into this space!“

What is front of mind in your business currently?

What is front of mind is how fundamentally broken the end-to-end funding and access pathway is for rare disease treatments and how little this is acknowledged by those who design it.

In rare disease, we are constantly told to celebrate scientific progress. Governments invest public money into universities and academic centres to stimulate innovation. Researchers, often working with very limited resources, make genuine breakthroughs, such as in gene therapy approaches, small molecules, repurposed drugs etc. that all show real promise. These discoveries are nurtured through early grants, proof-of-concept studies and preclinical work, frequently funded by the taxpayer.

At some point, the research matures enough to be picked up by a biotech or pharmaceutical company. That transition is not trivial. The company takes on enormous financial risk, spending millions and running clinical trials over many years. Patients and families engage in those trials with hope and no small amount of sacrifice.

And then, if everything goes right, if the data are positive, if regulators approve the treatment we hit the most absurd part of the process. The same countries that funded the original research now refuse to pay for the treatment.

Health Technology Assessment (HTA) bodies reject reimbursement on cost-effectiveness grounds, budget impact concerns or evidence thresholds that were never designed for ultra-rare diseases.

Access is denied. Families are told the drug exists, is approved, and works but is simply not available to them.

So, the question becomes unavoidable: what was the point of funding the research in the first place? This circular, self-defeating system is not theoretical as our families live it. We see hope created, amplified and then abruptly withdrawn, not because the science failed, but because the system did.

What are the greatest challenges you face, what are your pain points and barriers to overcome?

The greatest challenge is operating in a system where responsibility is fragmented and accountability is absent.

Governments fund early-stage research but wash their hands of the downstream consequences. HTA bodies operate in silos, applying population-level economic models to diseases that affect dozens, or sometimes fewer, people. Industry is expected to shoulder all late-stage risk while being criticised for pricing decisions that are, in part, shaped by the very uncertainty and delays the system creates.

And our families sit in the middle, absorbing the emotional cost.

From a charity perspective, one of the biggest pain points is managing expectations ethically. We support families from diagnosis through disease progression. We explain research. We help them engage with trials. We encourage hope, but we also know that access is far from guaranteed, even when a drug is approved.

Another barrier is the complete mismatch between rare disease realities and reimbursement frameworks. Cost-per-QALY thresholds, short-term budget cycles, and rigid evidence requirements were never designed for progressive, childhood-onset, life-limiting conditions. Yet rare diseases are forced into those boxes anyway.

There is also a moral hazard embedded in the system. Public money de-risks early innovation, industry de-risks late development, patients de-risk trials through participation, and then the payer opts out at the final step. The burden is distributed and the denial is centralised.

For charities like ours, this creates a constant cycle of advocacy, education, and firefighting. We are asked to help drive research forward, build patient registries, support trial recruitment and engage with industry, yet when access is denied, we are also expected to support families through the fallout, with no formal power to change the outcome.

That is exhausting. And it is avoidable.

What are the greatest opportunities yet to be realised or on the horizon for your business?

The opportunity is to redesign the system so that early public investment carries downstream responsibility.

If governments are willing to fund early research, particularly in rare disease, then there should be a parallel commitment to access planning. That could include conditional reimbursement models, early HTA engagement during academic and translational phases, or national agreements that recognise prior public investment when assessing value.

There is also a real opportunity to integrate patient and advocacy insight much earlier. Families understand disease progression, unmet need and meaningful outcomes far better than most decision-making bodies. When that insight is used early, in trial design, endpoint selection, and evidence generation, it reduces uncertainty later and strengthens reimbursement submissions.

We are also seeing opportunities through real-world data, adaptive pathways and managed access agreements. These tools exist, but they are applied inconsistently and often too late. Used properly, they could bridge the gap between regulatory approval and reimbursement, particularly in ultra-rare conditions where traditional evidence generation will always be challenging.

For charities, the opportunity is to move from being seen as “supportive” to being recognised as strategic partners who can help align research funding, development pathways, and access planning from the outset.

But that only works if systems are willing to listen.

If you could create overnight change, what would it be?

I would require any publicly funded rare disease research programme to include an access and reimbursement pathway as part of its funding conditions.

If a government funds a researcher to develop a treatment, there should be a clear, pre-agreed framework for how that treatment will be assessed, funded, and made available if it succeeds. Not a guarantee of approval, but a commitment to engage in good faith, with criteria that reflect rare disease reality rather than retrofitting population-health economics.

I would also mandate transparency. Families deserve to know why access is denied, who made the decision, and on what basis. Too often, rejection letters are abstract, technical, and disconnected from lived experience.

Finally, I would rebalance the system so that hope is not treated as collateral damage. Families should never be punished for believing in research their own country helped to fund.

What is the next ‘go-to’ event in your diary and why?

Any forum where policymakers, HTA bodies, industry, researchers and patient organisations are in the same room and forced to listen to one another.

The rare disease community does not need more siloed conversations. We need honest, uncomfortable discussions about how decisions are made and who bears the consequences when they fail.

Events that bring these stakeholders together, grounded in real case studies and lived experience, are where change actually starts, not press releases celebrating innovation that patients may never access.

incognito provides a candid look behind corporate closed doors in the RARE disease world.
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