pLOG

2026-05-22

**Unable to Wait, Unable to Afford, Unable to Sustain: How to Unlock the Triple Dilemma of Rare Disease Medication**

There are approximately 7,000 known rare diseases globally, about 80% of which are genetic disorders. However, only a few hundred of these conditions—roughly 5% of all rare diseases—can be treated with medication. For most patients, the true challenge is not just the lack of available treatments, but the fact that even when a drug exists, they are often trapped by three major hurdles: “the endless wait, the inability to afford it, and the struggle to sustain it.”

The Endless Wait

Research and development, market approval, and reimbursement have never operated on the same timeline. Even if many orphan drugs have been approved abroad or have demonstrated clear clinical value, patients may still wait for months or even years due to local regulatory reviews, price negotiations, and National Health Insurance (NHI) enrollment procedures.

In recent years, Europe has gradually institutionalized this gray area. Starting in July 2021, France replaced its old ATU/RTU framework with two mechanisms: Accès précoce (Early Access) and Accès compassionnel (Compassionate Access). This allows patients with specific severe or rare diseases to receive treatment under strict conditions before official marketing and reimbursement are finalized, while simultaneously accumulating real-world data (RWD). At the EU level, Article 83 of Regulation (EC) No 726/2004 provides the legal framework for "compassionate use," with the EMA/CHMP issuing opinions to help member states maintain a degree of consistency in their system designs.

For Taiwan, what is truly lacking is not the goodwill of individual cases, but a systematic bridge that can support patients. When a patient has been diagnosed, the physician has a clear treatment plan, and the drug is not entirely nonexistent, the mission of healthcare services is not just to "wait for policy." Instead, it is to help patients connect diagnosis, referral, application, medication communication, and continuous follow-up into a viable, navigable pathway.

 

The Inability to Afford It

The sharpest reality of rare disease treatment is the price. Taking public information from Taiwan as an example, a single dose of Zolgensma costs around NT$49 million, AADC gene therapy is over NT$100 million per dose, and a single course of CAR-T therapy costs about NT$14 million. Under traditional annual budgets and global budget systems, this type of one-time, high-cost expenditure is easily viewed as an unabsorbable cost.

Consequently, international payers have begun developing various tools, such as Outcomes-Based Agreements (OBA), installment payments, annuity-based payments, money-back guarantees, and data-collection-driven reimbursement designs. The core logic behind these approaches is to transform an immediate, lump-sum drug cost into a traceable, verifiable payment relationship that can be adjusted based on therapeutic efficacy. This is not just financial engineering; it is the prerequisite for giving high-priced therapies a chance to enter the actual healthcare system.

On the patient side, the "inability to afford it" often extends beyond the price of the drug itself. From post-diagnosis cross-hospital referrals, testing, medication education, and side-effect monitoring, to family communication and subsequent follow-up arrangements—all of these represent hidden costs that determine whether a treatment can truly be initiated. Therefore, rare disease care requires more than just subsidies; it demands a medical service that integrates financial assistance, treatment management, and care coordination.。
 

The Struggle to Sustain It

Even if a patient has managed to start treatment, they may still get stuck on the next question: how to keep going? There is often a prolonged gap between the end of a clinical trial, the official market launch, and the final decision on health insurance reimbursement. For patients who require long-term, continuous therapy, the most terrifying thing is not having never started, but having their treatment interrupted after it has begun due to a failure in system transition.

Some countries have already integrated early access programs with the collection of real-world evidence, allowing patient medication data during the transition period to feed back into subsequent Health Technology Assessment (HTA) and reimbursement evaluations. This demonstrates that "the struggle to sustain it" is not necessarily just a budget issue; it can also be mitigated through the design of policy frameworks, data collection, and clinical service workflows.

Here, the role that PatientsForce can play is not merely helping patients find a solution, but serving as a collaborative healthcare service platform. By connecting pharmaceutical companies, hospitals, physicians, nurses, case managers, and patient families, it ensures that Patient Support Programs (PSP), drug reimbursement, care assistance arrangements, treatment tracking, and administrative processes are no longer fragmented. For rare disease care, the value of this role lies in reconnecting what were once broken stages of the patient journey—diagnosis, treatment initiation, resource application, and continuous follow-up—thereby reducing the administrative burden on both patients and healthcare providers while enhancing accessibility and compliance.

 

Taiwan's Next Step

In 2000, Taiwan passed the Rare Disease Prevention and Orphan Drug Act, becoming the first country in Asia to safeguard the rights and interests of rare disease patients through legislation. However, numerous advocacy efforts and analyses point out that since the introduction of the Second-Generation National Health Insurance (NHI), the average waiting time for new orphan drugs from application to NHI reimbursement has stretched from about 5 months to around 30 months, and the approval rate has declined significantly. Although Taiwan has recently experimented with initiatives such as accelerated reviews, parallel submissions, the twin Regenerative Medicine Acts, and installment payments, a more comprehensive bridging system is still missing to connect the gap between "the drug exists" and “patients can truly access, afford, and sustain it.”

Within this gap, the role of PatientsForce should not merely be that of an administrative executor; rather, it can serve as a medical service partner within the rare disease care ecosystem. By assisting with patient pathway design, treatment initiation, the implementation of Patient Support Programs (PSP), cross-hospital resource integration, and continuous tracking, it ensures that someone is there to truly catch and support patients' needs beyond the formal policy framework.

When we discuss EAP, PSP, RWE, or innovative payment models, we appear to be talking about institutional tools on the surface. Yet for rare disease families, what matters most is whether there is a service system capable of genuinely stitching together medical care, resources, and support throughout the agonizingly long wait. This is precisely the missing piece that rare disease care most urgently needs to address in its next step.

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