Author: PatientsForce Editorial Office | May 2026

There are about 7,000 known rare diseases worldwide, of which approximately 80% are hereditary; However, only about a few hundred rare diseases can be treated with medication, accounting for roughly 5% of all rare diseases. For most patients, the real challenge is not simply not necessarily having the medication, but that even when the medication is available, they often get stuck at the three hurdles of “not waiting, unable to afford, and unable to renew.”

I couldn’t wait

R, market launch, and reimbursement have never been on the same timeline. Many rare disease drugs, even if approved abroad or demonstrated clear clinical value, may still face months or even years of waiting due to local reviews, price negotiations, and health insurance coverage procedures.

In recent years, Europe has gradually institutionalized this gray area. Since July 2021, France has used Accès précoce (early usage) and Accès compassionnel(Compassionate use) These two mechanisms replace the old ATU/RTU framework, allowing patients with specific severe or rare diseases to receive treatment under rigorous conditions before official launch and reimbursement, while simultaneously accumulating real-world data. Article 83 of the EU-level Regulation (EC) No 726/2004 provides a legal basis for “compassionate use,” with EMA/CHMP providing input to help member states maintain a certain degree of consistency in system design.

For Taiwan, what is truly lacking is not the goodwill of individual cases, but the systematic bridge to connect with patients. When a patient has been diagnosed, the doctor has a treatment plan, and medication is not completely absent, the mission of medical services is no longer just to “wait for policies,” but to help patients connect diagnosis, referral, application, medication communication, and ongoing follow-up into a workable path.

I can’t afford it

The sharpest reality in rare disease treatment is price. For example, public information in Taiwan shows that a single dose of Zolgensma costs about NT$49 million, a single dose of AADC gene therapy costs over NT$100 million, and a CAR-T course costs around NT$14 million. Under traditional annual budgeting and total budgeting systems, such one-off high expenditures are easily seen as irreparable costs.

Therefore, international payers have begun developing various tools, such as performance-based agreements (OBA), installment payments, annuity payments, guaranteed plans, and data-driven payment designs. The core logic is to transform an immediate, incurred drug price into a traceable, verifiable, and effectiveness-adjustable payment relationship. This is not just a financial project; it is also the prerequisite for high-cost therapies to have a chance to enter the real medical system.

On the patient side, “unable to pay” is often not just about the drug price itself. From cross-hospital referrals, tests, medication education, and side effect monitoring after diagnosis, to family communication and follow-up visits, all are hidden costs that determine whether treatment can truly be initiated. Therefore, rare disease care requires more than just subsidies; it integrates financial assistance, treatment management, and care coordination into a medical service.

but could not continue

Even if a patient starts medication for a while, they may still get stuck on the next question: how to keep going? From the end of clinical trials, to official launch, and then to the completion of NHI decisions, there is often a long gap in between. For patients who need long-term maintenance treatment, the most frightening thing is not that treatment has not even started, but that treatment is interrupted after it begins due to failure to align with the system.

Some countries have combined early use with real-world evidence collection, allowing patient medication data during the transition period to flow back into subsequent HTA and reimbursement assessments. This means that “not being able to continue” is not just a budget issue; it can also be improved through systems, data, and medical service process design.

Here, PatientsForce plays a role not only in helping patients find solutions, but also as a collaborative platform for healthcare services, connecting pharmaceutical companies, hospitals, doctors, nurses, case managers, and patient families, so that Patient Support Programs (PSP), medication reimbursement, care assistance arrangements, treatment tracking, and administrative processes are no longer fragmented. For rare disease care, the value of these roles lies in reconnecting previously broken journeys—diagnosis, treatment initiation, resource application, ongoing follow-up—reducing administrative burdens on patients and medical services while improving accessibility and compliance.

Taiwan’s next step

Taiwan passed the Rare Disease Prevention and Drug Act in 2000, becoming the first country in Asia to legislate to protect the rights of rare diseases. However, multiple initiatives and analyses have pointed out that after the second generation of National Health Insurance, the average waiting period from application to inclusion in insurance coverage for rare disease drugs has been extended from about 5 months to about 30 months, and the reimbursement rate has significantly declined. In recent years, Taiwan has attempted to promote accelerated review, parallel review, dual regenerative medicine laws, and installment payments, but there is still a more complete bridge system between “drug existence” and “patients truly needing, affording, and continuing to use it.”

PatientsForce’s role in this gap should not be limited to administrative execution but can also be a medical service partner within the rare disease care system: assisting with case pathway design, treatment initiation, patient support program implementation, cross-hospital resource coordination, and ongoing follow-up, ensuring that beyond the system, there are still people truly meeting patients’ needs.

When we talk about EAP, PSP, RWE, or innovative payments, on the surface we are talking about institutional tools; But for families with rare diseases, what’s even more important is: amid the long wait, there is a service system that truly connects medical care, resources, and care. This is also the area that needs to be addressed most in the next step of rare disease care.