Rare Disease Day draws attention to conditions that individually affect small populations but collectively impact millions. It also underscores a stark reality. About 95% of rare diseases have no approved therapy.
Even once patients have been accurately diagnosed— which can take years— most can only work with their doctors to manage symptoms. Employment, income, family life and even physical independence may be impacted, both for patients and their immediate families.
High Costs of Rare Disease Research
Gene therapies, genetically targeted technologies and other innovative treatments have demonstrated significant potential to improve the lives of patients with rare diseases. But developing drugs to treat rare diseases, poses unique practical and financial challenges. When only a few hundred people across the country are eligible, recruiting patients to participate in clinical trials may be slow and expensive.
Drug manufacturers usually rely on sales volume to recoup their research and development costs. But for rare diseases where few patients experience any one condition, even successful drugs won’t be sold to a wide market. Those who need the treatment may not be able to fully cover the cost of bringing it to market.
These factors increase financial risk for researchers and drug developers working on rare diseases. The costs of discovering and testing new treatments are daunting, and the tension between recouping investment and ensuring patient access is further complicated by public reimbursement gaps and insurance formulary restrictions.
Insurer ‘Savings’ Strategies Cost More than Dollars
On the other side of the treatment equation, rare disease patients often struggle to access new therapies once they are approved by regulators. Insurers’ coverage limits and utilization management techniques, designed to control costs, negatively impact patient health. Such barriers cause unnecessary delays, and sometimes irreversible harm, for patients with progressive or degenerative conditions.
Rare Disease Day recognizes patients living with rare conditions who are hoping for treatments that don’t yet exist. Researchers are counting on stable investment to produce a new generation of therapies and bring them to the patients who need them most, regardless of their ability to pay.
Disease awareness is crucial, but only policy action can close the treatment gap.
