Life Through a Different Lens: They Just Talked About Eyes!

Christine and Anthony Gonzales dreamed of having a large family and were thrilled when their first child, Iliana, was born in August 2018. However, within a few months, their excitement turned to concern. “About a week after Iliana received her four-month childhood vaccine, we noticed her eyes making erratic movements,” Christine said. “We took her to Lucile Packard Children’s Hospital (LPCH) at Stanford and stayed a few days. They ruled out neuroblastoma and did whole-body MRIs to make sure everything was negative. Her eye movements decreased, so she was cleared.”

As Iliana moved into toddlerhood, the couple noticed some things seemed “off.” “Iliana was learning to walk, and occasionally, she would trip and run into things or halt if the lighting changed,” said Anthony. “At other times, she couldn’t locate things or find us. As the months passed, we realized that she wasn’t growing out of it and that something else was at play.”

Increasing Complexity

Then, just before Iliana turned two, her sister Malaya was born in June 2020. At the same time, Iliana’s eye movements increased in frequency.

The couple decided to take both girls to LPCH. “Iliana’s extensive workup, which included genetic testing and an eye exam under anesthesia (EUA), revealed retinal inflammation. They also recommended genetically testing Malaya because getting the results takes a while,” Christine explained.

Although the cause of Iliana’s inflammation wasn’t clear, a member of the Stanford medical team treating Iliana, whose clinical focus was ocular inflammatory disease, suggested treating her with steroids. As a nurse, Christine was acutely aware of possible side effects, and she and Anthony had serious questions about treating the inflammation without knowing its source. But hoping it might help, they consented.

“In December 2020, Iliana was hospitalized again, and the doctor suggested doing infliximab (a drug used to treat autoimmune diseases) infusions in addition to the steroids because the inflammation was so severe,” said Christine. “We started Iliana’s infliximab infusions in January 2021, and Malaya’s first EUA was in February 2021. According to the retinal specialist, Iliana’s inflammation was worse than Malaya’s, causing her vessels to become “leaky.”

At about the same time, the genetic tests revealed that both girls had the CRB1 mutation. “Even so, the doctor recommended continuing Iliana’s once-a-month infusions, which were given for a year,” Christine said.

At Iliana’s follow-up EUA in April 2021, their doctor admitted that the inflammation hadn’t reduced as much as anticipated. But it was still coming down, and he wanted to continue the infusions. “After the December 2021 EUA, he suggested using methotrexate, a chemotherapy drug, but we said no,” said Christine.

Weighing Choices

The fact that their doctor was leaving Stanford, the relative ineffectiveness of the infusions, and that the Gonzales family was moving all contributed to the decision to stop the treatments. This choice provided Iliana with a much-needed break from the poking, prodding, and stress associated with the infusions and testing. It also gave Christine and Anthony the time and space to evaluate their situation, which was now even more complex with Malaya’s diagnosis. They planned to monitor the girls and get a second opinion.

Between 2018 and 2024, the Gonzaleses consulted with eight doctors at four different medical facilities in California to identify what was affecting their daughters’ vision. While the genetic testing revealed the CRB1 mutation in 2020, the focus of the retinal specialist at that time was on treating Iliana’s retinal inflammation. A definitive diagnosis of LCA wasn’t made until 2024, when the Gonzaleses took their daughters to see Jacque Duncan, MD, at the University of San Francisco. Dr. Duncan confirmed a diagnosis of Leber congenital amaurosis (LCA) for both girls and connected the family with the Foundation Fighting Blindness (FFB) to help them find more resources and a supportive community.

Embracing a New Reality

Receiving the genetic diagnosis was simultaneously helpful and crushing. Throughout their medical journey, Christine had done extensive online research, and it was discouraging when she discovered no treatment was available for the CRB1 gene.

It is an understatement to say that the recessive gene mutation had already handed the family a one-two punch, but it wasn’t done. In October 2022, their son Amari was born and found to be a CRB1 carrier. While this diagnosis wouldn’t impact his vision, the information could have implications later in life if he decides to have children. With no family history of eye disease, their children’s genetic diagnoses were shocking for Christine and Anthony and their extended family.

“What was so hard about this process is that young children can’t express what they are feeling or experiencing. There is only so much you can do. It’s like banging your head against the wall, and there is a lot of self-doubt as a parent,” said Christine. “But it’s tough to get the genetic diagnosis. After all of the searching and finding, it comes down to us, as their parents, causing this by passing on a gene mutation we didn’t know we had.”

Creative Next Steps

Determined to soldier on, Christine and Anthony decided to homeschool the children. Iliana is currently in the first grade and is a bright and eager student. Malaya and Amari are too young for school and are very active and curious, which means there is never a dull moment in the Gonzales household. The couple share child care and homeschooling responsibilities via a carefully choreographed work schedule. Anthony is employed at a local hospital in the dietary department, and Christine, an RN, works nights at the same hospital. The family is working with the county and school to create an individualized education plan (IEP) for Iliana and one for Malaya when she starts kindergarten.

Regarding the girls’ current vision status, Iliana was tested in 2024 and found to have significant peripheral vision loss. For now, Malaya’s vision may not be as impacted as Iliana’s. “Malaya is strong-willed,” Anthony explained, “and she isn’t very compliant at this point, so testing is tricky! But we’re noticing similarities in Malaya’s vision that we initially observed with Iliana.”

Like Iliana, Malaya struggles with night blindness. “It’s hard when the light is dim at night, and they can’t see us,” said Anthony. “And if Malaya drops a toy, she has trouble locating it. Seeing them both feel around for things hurts.” The Gonzaleses have a follow-up visit for the girls with Dr. Duncan in November to learn more about their daughters’ vision status.

Eager to Learn More

When Christine and Anthony heard about FFB’s June VISIONS conference in Chicago, they decided to attend and bring Iliana. During the information sessions, Iliana sat quietly beside her parents, dangling her feet over the seat as she beamed smiles to everyone around her.

The Gonzaleses were relieved to learn more about inherited retinal diseases (IRDs) and LCA at the conference. Anthony said it was impressive to see so many people managing well with a visual disability or blindness, but it was also emotionally challenging. While the information was beneficial, it confirmed that the repercussions of LCA would be a life-long journey for their family.

Excited to be at the conference with her parents, Iliana absorbed as much information as a five-year-old could. When the family returned to California, Iliana’s grandfather asked her about the conference. She quickly summarized her experience without missing a beat by saying, “They just talked about eyes!”

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The Gonzaleses met the Hope in Focus (HIF) team at VISIONS 2024 and plan to attend the HIF Family Conference in Minneapolis, MN, on June 20-21, 2025. There, they hope to meet other families and members of the LCA community and glean more information and support to help them guide their children on this unexpected life journey.