Advocate Pushed for Expanded Genetic Testing Access
A grieving mother is lobbying for policy shifts after a rare genetic diagnosis affected her family.
Updated on Oct. 7, 2026 in Special Needs
Yojana Rodriguez Humbert is advocating for expanded genetic counseling and testing access on Capitol Hill following the death of her daughter, Kaya. Kaya Humbert, who was the 43rd known case of the rare condition SPLIS globally, passed away in 2025.
Why it matters
The advocacy efforts highlight critical gaps in current genetic screening systems that prevent families from receiving timely, life-saving information about rare conditions. These systemic blind spots can leave parents without essential medical insights until after a child is already severely symptomatic.
Kaya Humbert was the 43rd known case of SPLIS in the world and required 36 medications to manage her health. Her mother, Yojana Rodriguez Humbert, previously underwent carrier screening in 2014 before the gene associated with this condition was identified in 2017.
The players
Yojana Rodriguez Humbert
A mother and founder of Kaya Legacy who is lobbying for policy improvements in genetic testing and rare kidney disease research.
Kaya Humbert
A child diagnosed as the 43rd global case of the rare condition SPLIS who required intensive medical management before passing away.
The details
The condition SPLIS leads to severe complications, including end-stage kidney disease, which Kaya Humbert developed by six months of age. The current genetic testing landscape often misses rare gene mutations until they are identified through clinical research, creating a gap for families who undergo standard screening. To address this, the mother founded Kaya Legacy and is now lobbying for increased research funding and broader legislative support for rare disease detection.
Timeline
2014: Yojana Rodriguez Humbert underwent initial carrier screening.
2017: The gene associated with SPLIS was identified.
2023: Kaya Humbert was born.
2025: Kaya Humbert died and Florida passed the Sunshine Genetics Act.
The Home Front
The advocacy efforts represent an update to the standards established by Florida's Sunshine Genetics Act. These legislative pushes reflect a broader trend of families seeking to close gaps in the genetic screening landscape to better inform household medical planning.
Families with concerns about hereditary conditions should consult with a licensed genetic counselor to review the limitations of standard carrier screening panels. It is essential to discuss whether current tests cover the latest gene-identified conditions when planning for family health.
The takeaway
Advocacy for better genetic testing aims to ensure families receive life-saving medical data that current standards might overlook. Parents should proactively request detailed information from their healthcare providers regarding exactly which rare conditions are included in their specific genetic screenings.
Further reading
For more information on navigating resources for rare diagnoses, visit the Special Needs section.
