In a remarkable story of resilience and determination, the Nye family has founded a nonprofit that aims to advance research into a rare genetic disorder affecting their children, Tessa and Colton. Established under the guidance of paediatrician Dr Priscilla Chan, Rare As One has provided essential financial support to families grappling with similar issues since its inception in 2019.
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Tessa Nye was born in 2003 and immediately began experiencing severe seizures, much to the concern of her family. Initially, there was cautious optimism that medical intervention might control her condition. However, as the months passed, it became increasingly clear that the seizures were not subsiding. By the age of three, Tessa was unable to walk or talk, with her mother, Kim, expressing her fears that she might not survive to attend kindergarten.
The Nye family tried various specialists and medical facilities, all in search of answers regarding Tessa’s health. Despite extensive tests, the results continually came back inconclusive. After a few years, the couple welcomed two more daughters, Lily and Maggie, but their hopes for a healthy family were dashed once again when their son Colton was born. He too exhibited seizure activity shortly after birth, leading doctors to suspect a genetic basis for their challenges.
Eventually, genetic research identified a mutation in the SLC13A5 gene, revealing that Tessa and Colton were among the first documented cases of this rare recessive disorder. With newfound clarity came a sense of community; Kim began connecting with other families experiencing similar challenges through a Facebook group and by adding information to relevant online resources. These efforts built a network of support and shared knowledge among families affected by the disorder.
In 2015, the Nye family took a pivotal step by creating the TESS Research Foundation. This patient-led organisation seeks to accelerate research dedicated to SLC13A5 disorders. Operating initially with a volunteer workforce, the foundation ignited a grassroots movement among rare disease communities, bringing together scientists and families who had never communicated before.
In 2019, the TESS Research Foundation gained further momentum as it became one of the first recipients of funding from the Chan Zuckerberg Initiative’s Rare As One programme. The foundation received a substantial grant of $450,000, which was aimed not just at research, but at strengthening the organisation itself. This approach challenged the conventional wisdom that funding should strictly support laboratories and research projects.
The grant allowed the TESS Research Foundation to hire a scientific director and expand its fundraising capabilities. With the support of Rare As One, the foundation developed vital internal systems necessary for sustained growth, as well as receiving invaluable training and mentorship, particularly during the unprecedented challenges posed by the COVID-19 pandemic. Kim Nye described the transformative nature of this support, stating, “I really think we have benefited in a massive way from what they did with us and for us.”
As new funding cycles are set to commence this autumn, the Rare As One initiative continues its mission to support organisations focused on enhancing diagnosis processes, building research communities, and pioneering novel treatments. It has greatly impacted the TESS Research Foundation, with its initiatives resulting in substantial scientific advancements.
Today, the foundation is preparing to enter clinical trials for a gene therapy specifically targeting SLC13A5 deficiency. “We own this programme,” Kim declared proudly, emphasising the personal connection her family has to this groundbreaking research.
The Nye family’s journey from despair to hope reflects a broader narrative involving patient-led organisations. These groups, illuminated by the support of initiatives like Rare As One, are increasingly recognised for their potential to bring about meaningful change in the field of rare diseases. Through their commitment, the Nye family not only strives for answers for their children but also paves the way for other families navigating similar paths.