She is a researcher and mother to a child with an ultra-rare disease: We are failing patients like him

The Danish healthcare system, lauded for its quality and evidence-based practices, paradoxically fails patients with ultra-rare diseases when scientific evidence is scarce, writes Ayna Baladi Nejad, a mother and clinical pharmacologist.

Nejad recounts the six-year struggle to diagnose her son's condition, a journey that concluded without any available treatment. Faced with this systemic gap, she felt compelled to develop treatment strategies herself. However, her concrete, scientifically grounded proposals were met with rejection, not dialogue, simply because they lacked prior documentation within the system.

She argues that the system's reliance on existing evidence creates a Catch-22 for patients with rare conditions. The lack of established treatments means less research, which in turn leads to less evidence, perpetuating a cycle of inaction. Nejad's experience highlights a critical flaw in how the healthcare system approaches the unknown, leaving patients like her son without hope or recourse.