At Presley’s 20-week anatomy scan, the sonographer was unable to get clear images of parts of her heart. We weren't worried initially, assuming she was just tucked into an awkward position and that the next ultrasound would clear things up.

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At the follow-up, we knew immediately that something was wrong. Our OB-GYN explained that Presley had a congenital heart defect and referred us to maternal-fetal medicine. That doctor confirmed the defect and sent us to a fetal cardiologist at Le Bonheur Children’s Hospital. Following countless appointments and meticulous delivery planning,

 

Presley was born full-term in Memphis on May 24, 2025.

We had mentally prepared for about a week in the NICU for heart monitoring, with her surgery slated for when she reached 4 to 6 months. But that initial week turned into two, and two weeks stretched into two months.

 

Presley struggled with feeding and low muscle tone. A recessed chin and smaller head size raised immediate flags for her care team, signaling that her condition extended beyond her heart. The genetics team ran a cardiac panel to test for broader underlying conditions.

At exactly one month old, Presley was diagnosed with Jeffries-Lakhani neurodevelopmental syndrome, caused by mutations in the CRELD1 gene.

 

No one on her medical team had encountered this condition before, let alone treated it, meaning our doctors were learning right alongside us. Because CRELD1 is exceptionally rare, reliable information was nearly impossible to find. It was only through our own searching that we discovered a small, fiercely supportive community of CRELD1 warriors and began understanding what to expect.

 

Over her first year, more symptoms emerged. By her first birthday, Presley had been evaluated or treated for congenital heart disease, dysphagia, micrognathia, hypotonia, cortical visual impairment, nystagmus, GERD, global developmental delay, and myoclonic seizures. She received a G-tube at two months, which was converted to a GJ-tube at eight months, and underwent open-heart surgery at five months.

 

While her heart defect was a daunting hurdle, she bounced back remarkably well and has had virtually no cardiac issues since the repair. Her epilepsy, however, has been far harder to navigate. Her myoclonic seizures started at four months, and despite extensive monitoring and numerous medication trials, they remain very difficult to control. They drain so much of her strength, and whenever she enters status epilepticus, we brace for a grueling few days ahead.

 

Yet despite enduring more in her young life than most people will ever face, Presley is astonishingly resilient. She is the happiest little girl you could ever meet. Even on the toughest days, her light shines straight through. She adores playing with her big sister and cuddling with Mommy and Daddy. We are endlessly grateful for Presley and the boundless joy she brings to our family.