OPINION:
Every patient deserves a fair shot at a healthy life, especially those battling the most devastating and life-threatening illnesses. Yet for the millions of Americans living with rare diseases, that promise remains too often out of reach. Today, more than 10,000 rare diseases have been identified, but only about 5% have an FDA-approved treatment. For families confronting these diagnoses, this is not only a fight against illness. It is a fight against a system that has historically overlooked their needs. The consequences are profound and heartbreaking. Nearly 30% of children diagnosed with a rare disease will not live to see their fifth birthday. These are not abstract statistics. These are children, families and futures cut tragically short. And this reality is unacceptable.
That is why Congress must continue to act with urgency and why bipartisan, patient-focused policies matter so deeply.
One of the most effective tools we have had in this fight is the Rare Pediatric Disease Priority Review Voucher program. This proven incentive has helped bring more than 50 treatments to market for children facing devastating conditions such as spinal muscular atrophy, cystic fibrosis, and Friedreich’s ataxia. Of those treatments, 36 addressed diseases that previously had no approved options at all. These breakthroughs have saved lives, restored hope and given families something priceless: more time with their children.
I am proud that Congress has now united to reauthorize this critical program and that it has been signed into law. By providing either an accelerated FDA review or a transferable voucher that can support continued research, the program continues to drive investment into rare pediatric disease research some of the most complex, costly, and high-risk clinical trials in medicine. It does so at zero cost to taxpayers. As chair of the Congressional Rare Disease Caucus, I was proud to help lead this bipartisan effort. This achievement is about more than drug development. It reflects our values and our commitment to stand up for the most vulnerable among us and to say clearly that every child matters.
We have also made important progress in recent months to strengthen the pediatric research pipeline. Just this month, the Give Kids a Chance Act was also signed into law. I co-authored this comprehensive legislation to accelerate the development of pediatric cancer treatments and expand access to lifesaving therapies for children with rare diseases. This package strengthens incentives for pediatric drug development, improves patient outcomes, and addresses longstanding gaps in research for rare childhood diseases.
The urgency could not be clearer. Each year, more than 1,500 children in the United States die from cancer. That represents more than 1,500 families devastated by loss and a call to action for policymakers. The Give Kids a Chance Act builds on proven successes and includes a key reform that codifies orphan drug exclusivity based on an FDA-approved indication rather than a broader disease category. This change ensures that companies continue developing targeted therapies for small patient populations, even when market incentives alone fall short.
Equally important is ensuring children receive answers as early as possible. Too many families endure what is often called a diagnostic odyssey: a journey that can last years and involve repeated misdiagnoses, unnecessary tests, and overwhelming emotional and financial strain. That is why I am proud to sponsor the Genomic Answers for Children’s Health Act. This legislation clarifies that children enrolled in Medicaid who have a suspected rare disease or genetic disorder can access advanced genomic sequencing, a diagnostic tool that has quickly become the standard of care.
Whole genome and whole exome sequencing can dramatically shorten the time it takes to reach a diagnosis, sometimes from years to weeks, or even days. The bill clarifies coverage under Medicaid’s Early and Periodic Screening, Diagnostic, and Treatment benefit for eligible children in both inpatient and outpatient settings and supports access in hospital environments. Studies show this approach is not only clinically effective but also cost-efficient, and it is recommended by major medical organizations. This legislation also builds on important momentum from states like Florida, which passed the Sunshine Genetics Act to expand access to genomic tools and improve outcomes for children with rare diseases.
More broadly, early diagnosis remains a cornerstone of my work. Expanding newborn screening is a critical part of ensuring that no child suffers because a disease was not detected in time. This year, two rare diseases, metachromatic leukodystrophy and Duchenne muscular dystrophy, were added to the newborn screening process. Identifying rare diseases early can dramatically improve outcomes by enabling timely treatment, more effective therapies, and, in some cases, cures. Early diagnosis also benefits our whole healthcare system by preventing complications, reducing years of misdiagnosis and lowering long-term costs.
I am currently working with a constituent, Mattie, whose rare disease, biliary atresia, was not recognized at birth even though a simple blood test could have made all the difference. Stories like Mattie’s reinforce why this work matters. I will continue working with Secretary of Health and Human Services Robert F. Kennedy Jr. and his team to expand newborn screening even further and ensure more children get the early care they need.
During Rare Disease Week (Feb. 24-26), we celebrate progress, but we must also acknowledge how much work remains. Far too many Americans are still lost to rare diseases. I am proud to help lead this charge with urgency, accountability and compassion. Together, we can deliver real solutions, better outcomes and the brighter future that every child, family and patient deserves.
• Rep. Gus Bilirakis serves Florida’s 12th Congressional District. He serves on the Energy and Commerce Committee, where he chairs the Innovation, Data and Commerce Subcommittee and is also a senior member of the Health Subcommittee and the Communications and Technology Subcommittee. He also chairs the Congressional Rare Disease Caucus.
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