How Yojana Rodriguez-Humbert's greatest loss became her life's work

When people think about dialysis, they typically picture adults hooked up to machines. They don't usually envision a baby undergoing such intensive treatment. But for AKF Ambassador Yojana Rodriguez-Humbert and her family, this difficult-to-imagine scenario became their heartbreaking reality after their infant daughter Kaya was diagnosed with a rare genetic condition that causes kidney failure.

The diagnosis came as a complete shock to Yojana's family, as Kaya's birth in December 2023 was not particularly eventful. While Kaya did have hearing loss in one of her ears, doctors told Yojana and her husband that it likely was a result of fluid in her ears from being in the birth canal and that it should resolve itself over time.

However, about two weeks after Kaya was born, the state of Florida — where Yojana and her family live — called and said that Kaya's newborn screening indicated she had a low number of T-cells. This was concerning, because T cells help the immune system fight germs and protect the body from disease. 

"At that time, we were told that she more likely than not had a compromised immune system and that we [should] bring her back in for more testing," Yojana said. That testing included genetic testing. 

"At about the six-week mark, we received the results of her genetic test, which confirmed that she had two [mutations] of the SGPL1 [sphingosine-1-phosphate lyase 1] gene," which Kaya inherited from her parents, Yojana said. Kaya was diagnosed with Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS), a very rare genetic disorder. Although doctors could confirm that Kaya had a compromised immune system, they otherwise knew very little about what the diagnosis meant for her health, as she was told she was one of just 46 people in the world at the time with this condition. 

As Yojana learned more about SPLIS, she discovered that it causes end-stage kidney disease (ESKD), also known as kidney failure. "We learned around the eight-week mark how bad her kidneys were already," she said. "[Kaya]'s kidneys were crystalized, and she had a great deal of damage from [being inside the uterus], where her lipids were attacking her kidneys." While her kidneys functioned for a few months, they eventually stopped working. "At the five-month mark, [Kaya] had a five-minute seizure, and that's when we learned that her kidneys completely failed," Yojana said. 

After stabilizing Kaya, doctors performed surgery to put a peritoneal dialysis catheter in her body. Kaya then began manual peritoneal dialysis and remained on that for two months before switching to automated peritoneal dialysis, where she was hooked up to a cycler machine for 14 hours a day, usually at night.  

In addition to dialysis, Kaya was also on nearly 30 medicines to manage other health issues, including medicine for her thyroid, adrenal glands and nervous system and medicine to control her blood pressure. 

For Yojana, the hardest part of being Kaya's mom was not knowing how her daughter was feeling. She said she so badly wanted to be able to ask Kaya, "Is [this treatment] helping you? Are you feeling better? Are you feeling worse?" 

Not being able to do this was immensely difficult for Yojana, as was her inability to comfort Kaya. "Kaya's condition was so multi-systematic," she said. "[When my other kids] were her age, if they were uncomfortable, I could comfort them with a whisper, with a song or with a kiss." But due to Kaya's compromised immune system, Yojana couldn't kiss her daughter, and she was told that if she whispered in Kaya's ear, she wouldn't be able to hear her. "Over and over, this disease took so much of her from me," Yojana said. 

Tragically, Kaya lost her life to complications of SPLIS, passing away on March 7, 2025, just a couple of months after her first birthday. In the face of unimaginable loss, Yojana decided to honor her daughter's life with action. She founded the nonprofit Kaya Girl Legacy to advocate for access to genetic testing and to raise awareness of rare diseases like SPLIS.

"[My husband and I] did genetic testing in 2014, and SPLIS was not discovered until 2017," Yojana said. "I was always very transparent with my primary care doctor and my OBG-YN. [I told them], 'I have an intention to have more children." 

Yojana's second child was born in 2020, and Kaya, her third, was born in 2023. "No one ever said to me, 'Yojana, we know so much more today than we did yesterday; we should redo your carrier screening,'" she said. "I would have pursued that. That gap, for me, is a missed opportunity and one that I am really trying to fill via Kaya Girl Legacy, of just giving people the knowledge of the importance of understanding our genetics."

Yojana said it's possible she and her husband would have made different choices about their family planning if she had pursued genetic testing after their first child was born. "I would have had this awareness," she said, referring to her knowledge of the gene she and her husband carry that gave Kaya SPLIS. "[That awareness] would have helped my husband and I make a more informed decision. Maybe we would have said, 'We're blessed with one healthy child, and we stop here.' Or maybe we would have had [our second child] and then tested [after that]. I don't know, but I know I would have done something with the knowledge."

As a result of her experience, Yojana is passionate about making conversations and testing related to genetic issues more routine in health care visits. "The same way we do wellness checks once a year and talk about vaccinations, STDs and preventive care is the same way we should approach genomics," she said. "These should be conversations that are had with primary medical professionals. You shouldn't wait for crisis to arise. Hand people the knowledge and allow people to make their own decisions."

Yojana also emphasized that it is important for people to understand that genetic testing is not just about their own health. "[Information about genetic testing] does not only directly impact you, but it also impacts your family line," she said. "[Genetic testing] is not something that you only do for you because you plan to have children, it's more so related to your legacy. What are you leaving behind, and what are you giving in relation to knowledge that people can use?"

Click here to watch Yojana Rodriguez-Humbert speak at a Kidney Action Week® 2026 session, "Policy Briefing: Policy and Innovation in Kidney Care." 

Click here to view the report on AKF's 2025 Patient Access Initiative (PAI) Summit, at which Yojana spoke.

For more information on genetic testing and counseling for kidney disease — including a downloadable guide — visit our Answers Unlocked webpage. 

Click here to listen to our episode of The Kidney Collective™ podcast with Mary-Beth Roberts, a pediatric and adult genetic counselor.