A Baby Girl’s Legacy Lives On: What Advances in Genetic Testing for Rare Diseases Can Mean for Families Everywhere

This is part of a series: Patient Stories

Trigger warning: Infant loss

💛 Originally featured by Labcorp | Read the published article here

As Yojana Rodriguez-Humbert and her husband Christophe awaited the birth of their youngest daughter, Kaya, in 2023, they thought they knew what to expect. After all, they’d already had two beautiful, healthy children, their son Kamali and their daughter Kehlani.

"From the moment of Kaya’s arrival, things were different,” Yojana said. 

The first sign came with the newborn hearing screening, which Kaya didn’t pass. There was probably just fluid in her ears, their healthcare providers said. 

But the only thing that came up on Kaya’s newborn screening was low T-cells. T-cells are a type of white blood cell that help the body fight infections. When a baby has very low T-cell levels, it can be a sign that their immune system isn’t working properly. This kind of result doesn’t point to one specific condition, but it does raise concern something serious might be going on.  

That can lead to more tests, including genetic testing. For Kaya, Yojana, and Christophe, their genetic results changed everything.

New genetic test results lead to quick diagnosis of a rare disease

Kaya had inherited two different variants of the SGPL1 gene—one from each of her parents—which caused a genetic condition called Sphingosine Phosphate Lyase Insufficiency Syndrome, or SPLIS. This condition is so rare, only 46 children had been diagnosed globally at the time of Kaya’s diagnosis.

“I remember asking with a quivering voice, ‘Where did this come from,’ and hearing the answer—it came from both of us, the same parents who had so anxiously awaited Kaya’s arrival,” Yojana said.

SPLIS interferes with how the body metabolizes fats. The condition can affect the kidneys, adrenal glands and nervous system, and sometimes requires a kidney transplant. The way SPLIS manifests varies from person to person, but the symptoms tend to be more severe in patients who are diagnosed before the age of one.¹

Right now, there’s no specific treatment for the condition, and the long-term outlook for people who have SPLIS isn’t yet known.¹

Though the diagnosis was difficult, “it gave us clarity in the chaos,” Yojana said. “It helped us fight for the right care, advocate fiercely and love Kaya with deep intention.”

Kaya’s diagnosis wasn’t just rare. It was also complex, with symptoms that required constant, shifting treatment. The Humberts went from hopeful parents of a newborn to full-time caregivers who had to navigate a maze of appointments, dialysis machines, 29 medications in a single day, and long hospital stays—all while still working full time and parenting their two older children. 

“Our mothers and extended family stood in the gap, sleeping in hospital rooms, rotating shifts, giving us the chance to work and rest. Our lives became a series of alarms, feeds, meds, vitals, researching SPLIS at 3 am, praying, crying, hoping,” said Yojana.

Yojana also describes how, “even in the hardest days, God gave us glimpses of peace. Kaya’s calm spirit, her resilience, her smile—they were proof that even in suffering, there is light. She taught us how to live in the moment and hold tightly to grace.”

Understanding the pace of genetic science

Yojana received a genetic test in 2014 as part of routine carrier screening. At that time, the SGPL1 gene—linked to SPLIS— hadn’t yet been discovered. While retesting wouldn’t necessarily have revealed a risk for SPLIS back then, Yojana’s experience highlights a broader truth: genetic science is constantly evolving. 

As new conditions are discovered and testing panels expand, revisiting genetic testing can provide updated insights that may be important for future family planning or health decisions. Now she wants to help other families understand that “because science evolves, so must our willingness to look again.” Genetic testing can be valuable at all life stages because we collectively discover new associations between genes and diseases and gain a better understanding of these conditions as time goes on.

Genetic testing helped Kaya receive her diagnosis early, which meant her doctors had the information they needed to make precise recommendations quickly, saving Kaya and her parents from what could have been a more painful and costly diagnostic journey. “Those results anchored every decision we made, every medication, every specialist, every hospital admission,” said Yojana. 

That’s why she thinks genetic awareness is no longer optional. It is stewardship.” “Once we hold life-changing knowledge, like how our genes can impact our health or our children’s, we have a duty to care for that knowledge, use it wisely, and share it openly.” Yojana said. “It’s about being a caretaker of the truth we’ve been given, for our sake and for generations to come.”

Giving Kaya's family members the power of knowledge through genetic testing

Knowing Kaya’s results motivated the Humberts to continue cascade genetic testing, where more members of the family receive genetic testing to determine if they, too, share a genetic risk. “Waiting for results made those the hardest two weeks of my life,” said Yojana. “I remember pacing our home at all hours, praying, ‘God, please no, not all three of my babies.’” 

The Humberts’ two older children did not test positive for SPLIS, but they were both carriers of the SGPL1 gene variant. By knowing their genetic risk, Kaya’s siblings gained more information to inform their future children’s risk, if they choose to have kids. And, according to Yojana, “They will understand the preventive power of genetic testing.” 

Yojana understands firsthand how hard receiving a genetic diagnosis can be, but she says, “Don’t let fear keep you from knowledge. Science, though imperfect, is one of the ways we care for one another better. Genetic testing gives you options, language and foresight. I wish I had known to retest as science advanced. That’s why I speak now.”

Celebrating Kaya’s life

“My Kaya Girl was pure light,” Yojana said. “She had these wide, knowing eyes that looked straight into your soul. Even in silence, with her hearing loss, with her fatigue, she spoke volumes. She loved music therapy, the sound of rain sticks, the rhythm of love. Her siblings lit her up. She was gentle but mighty, sweet but incredibly strong.” 

In March 2025, at fourteen months old, Kaya passed away from complications of SPLIS. In their grief and with their deep sense of love and faith, the Humberts founded Kaya Girl Legacy to honor her memory.

Through their foundation, they seek to raise awareness about genetic health, empower families to ask questions and push for re-testing as science evolves, and to support those navigating rare diseases. “Because of Kaya, other children may be diagnosed with genetic conditions earlier. And because of Kaya, families will never walk alone,” said Yojana.

Advances in genetic science continue, including a study that’s currently underway to develop a gene therapy that could help alleviate SPLIS, and possibly even help other patients who suffer from chronic kidney disease and kidney failure.²

“Kaya changed everyone who met her,” Yojana said. “She was, and is, a miracle.”

💛 This story was originally published by Labcorp and is shared here with gratitude to honor Kaya’s light and continue raising awareness for genetic health.

References

1. Saba, J. Sphingosine Phosphate Lyase Insufficiency Syndrome. National Organization for Rare Disorders. May 1, 2024. Accessed July 30, 2025. 

2. Providing a cure for sphingosine phosphate lyase insufficiency syndrome (SPLIS) through adeno-associated viral mediated SGPL1 gene therapy. California Insitute for Regenerative Medicine. Accessed July 30, 2024.