Patients with rare disease are a vulnerable group in healthcare who urgently need more attention from the government and society. Despite their overall number, they face challenges such as limited diagnosis and treatment options, poor access to medications, and heavy financial burdens. Providing better protection for this group is not only essential for public well-being, but also an important indicator of societal progress. This paper analyzes the current status and challenges of rare disease protection in China, with a focus on building diagnostic and treatment networks, optimizing the multitiered social security system, and improving pharmaceutical access mechanisms. It highlights issues such as incomplete health insurance coverage, unequal resource allocation, and insufficient incentives for drug development. To address these challenges, we suggest strengthening policies, improving the multitiered social security system, encouraging social support, and promoting medical and pharmaceutical innovation to provide comprehensive care for rare disease patients.