For kids with extremely rare diseases, this promising technology provides a lifeline | Opinion

For a little girl named Susannah, seizures were a daily occurrence. In fact, she experienced nearly 290 seizures a day due to a nano-rare disease known as KIF1A-associated neurological disorder, or KAND. Then breakthrough science changed her life.

Susannah, one of the nearly 600 individuals with KAND, was able to receive treatment specifically designed for her condition. The medication used what’s known as genetically targeted technology – RNA-based treatment that tackles disease at its genetic source.

That same medical technology is now the subject of legislation before the U.S. Congress. A bipartisan bill known as the MINI Act gives policymakers a critical opportunity to rally behind patients like Susannah by protecting the future of genetically targeted technologies. The impact could be significant. Roughly 25 million Americans live with one of 7,000 known rare disorders. Many rare disorders have few viable treatment options. Many others, like KAND, do not have any approved treatments.

Genetically targeted technologies are built on Nobel Prize-winning science. They represent a scientific “quantum leap” that could accelerate the discovery of new treatments. Unlike traditional drugs, these medications — known as GTTs for short — interact with patients’ own cells and “turn off” the proteins causing their disease in the first place.

For Susannah, the impact was extraordinary.

After her first year of treatment, her seizures dropped to fewer than 30 per week. Her mobility improved, and her teachers noticed gains in her speech, attention and engagement. This past summer, her parents were thrilled to share that Susannah attended a sleepaway summer camp for the first time. For her family, this treatment didn’t just mean better health. It meant that Susannah could experience childhood in ways they had never imagined possible. Because of Susannah’s and her family’s bravery, a second child living with KAND is currently undergoing treatment and having success with the same treatment.

For families affected by KAND, the promise of GTTs is deeply personal. KAND is a rare, progressive disorder caused by mutations in the KIF1A gene. It leads to severe mobility loss, vision impairment, epilepsy and cognitive disabilities. Today, there is no cure or treatment available to manage KAND symptoms. However, GTTs could change that by targeting KAND at its genetic source.

While Susannah’s story is incredible, we still have over 500 families in our community who need GTTs modified to match their variation of KAND. This is why KIF1A.org continues to support the continued research and investment in GTTs.

Developing GTTs is complex and capital-intensive. It requires intricate chemistry, specialized facilities and highly trained personnel. The financial risks are significant, and companies will only pursue these treatments if the investment is sustainable. That’s why the MINI Act is crucial – it ensures continued investment in GTTs and preserves their potential for nano-rare disorders and other genetic disorders.

Generally, rare disease patients wait longer for treatment options as there is broader interest, attention and research funding dedicated to targeting more prevalent conditions with larger affected communities. But our families, children, siblings and friends deserve treatment options, and many cannot afford to continue to wait. Since KAND is a progressive neurodegenerative condition, waiting can mean lost lives, childhoods cut short and fewer opportunities for families and communities.

The United States is uniquely positioned to lead the world in this new technology. Between our universities, non-profits and private laboratories, we have the research infrastructure already in place. Many biotech firms developing GTTs are even manufacturing domestically.

With the MINI Act, Congress has a chance to champion what America does best: put bright minds to work developing breakthrough science that changes lives. Encouraging continued investment in treatments like GTTs is a step toward the healthier future we all deserve.

For rare disease patients, these treatments and the legislation that supports them represent nothing less than the promise of a brighter future.