Within hours of Tessa Nye's birth in 2003, she began having seizures. Doctors initially hoped the seizures would stop on their own or respond to medication, but as weeks turned into months, optimism faded. By age 3, Tessa wasn't walking or talking. 'We were just hoping she would live to see kindergarten,' her mother, Kim Nye, recalls. For the first 15 years of her life, Tessa experienced hundreds of seizures a day.

Kim and her husband, Zach, traveled to leading specialists and research centers, chasing one possibility after another. Some doctors sent blood samples to laboratories studying individual genes; others explored immune disorders or structural brain abnormalities. 'We just kept getting negative result after negative result,' Kim says.

Years later, after welcoming two healthy daughters, Lily and Maggie, the couple decided to have one more child. Then history repeated itself: their son Colton began having seizures within hours of birth. That clue led doctors to believe the condition was likely genetic. Researchers eventually identified mutations in the SLC13A5 gene, revealing that both Tessa and Colton had inherited an ultra-rare recessive disorder. At the time, they were among the first patients in the world known to have it.

Key Facts

• Tessa Nye, born in 2003, began having seizures within hours of birth. Her younger brother Colton, born in 2012, had the same pattern.
• Both children were diagnosed with a deficiency in the SLC13A5 gene, an ultra-rare disorder that affects citrate transport in cells and causes severe epilepsy.
• Their mother, Kim Nye, founded the TESS Research Foundation in 2015 to accelerate research into the condition.
• In 2019, the foundation received a $450,000 grant from the Rare As One program, founded by pediatrician Priscilla Chan, to build organizational capacity.
• A gene therapy for SLC13A5 deficiency is now moving into clinical trials.

As scientific papers describing additional patients began appearing, Kim realized there were other families like theirs. She created a Facebook group, added information to the gene's Wikipedia page, and began reaching out to families worldwide. In 2015, they formed the TESS Research Foundation, a patient-led nonprofit dedicated to accelerating research into SLC13A5 deficiency.

The organization started small, with Kim recruiting friends, family, and volunteers. She quickly learned that rare disease families occupy a unique position in scientific research. 'Many of the people who were studying the fly version didn't know the people who were studying the mouse version — and neither of those groups knew the actual kid version,' she says. Patient-led organizations can become hubs for information exchange and empowerment. 'There is no stronger driving force than love and grief,' Kim adds.

By 2019, the TESS Research Foundation had made significant progress but remained largely volunteer-driven. That same year, the Chan Zuckerberg Initiative's Biohub launched Rare As One, a program founded by philanthropist and pediatrician Priscilla Chan to support patient-led rare disease organizations. TESS Research Foundation was selected as one of the program's inaugural grantees and received $450,000. The grant came with a surprising condition: the money was not for research but for building the organization itself.

'My mind was blown,' Kim says. Like many rare disease advocates, she had spent years believing every available dollar should go to laboratories. Rare As One challenged that thinking. The grant allowed her foundation to hire a scientific director, expand fundraising efforts, and build internal systems for long-term growth. Rare As One also provided training and mentorship during the COVID-19 pandemic.

'It was transformative,' Kim says. The scientific work paid off: a gene therapy designed for SLC13A5 deficiency is now moving into clinical trials. 'We own this program,' Kim says. 'This is our baby.'

Rare diseases affect millions of people worldwide, but each individual condition may have only a handful of patients. Traditional drug development models often overlook these diseases because of small market sizes. Patient-led organizations like TESS Research Foundation fill a critical gap by bringing together families, researchers, and funders. The success of the gene therapy program highlights the power of targeted, collaborative efforts.

The Rare As One program has since expanded, supporting dozens of patient-led groups. Priscilla Chan, a pediatrician, has emphasized that patients and families are experts in their own conditions and must be empowered to drive research. The program provides not only funding but also technical assistance, networking opportunities, and leadership training.

For Kim Nye, the journey continues. Tessa is now 22 and lives with profound disabilities, but she has a dedicated care team and a family that never gave up. Colton, now 12, benefits from improved seizure management. The gene therapy offers hope that future patients may not have to endure the same struggles. Kim often speaks to other rare disease families, encouraging them to start their own foundations and apply for grants like Rare As One.

As gene therapy enters clinical trials, the TESS Research Foundation is also advocating for newborn screening for SLC13A5 deficiency. Early diagnosis could allow treatment before irreversible damage occurs. The foundation collaborates with researchers at universities and biotech companies to explore additional therapeutic approaches, including small molecule drugs and antisense oligonucleotides.

The story of Kim Nye and her family is a testament to the power of parental love and determination. It also illustrates a growing shift in rare disease research: from top-down, academic-driven studies to patient-led initiatives that prioritize real-world needs. Organizations like Rare As One are betting that investing in these patient leaders will accelerate cures for even the rarest conditions.

Source:MSN News