How Luka's CVI diagnosis provided understanding, community, and healing

Toddler Luka sits in the middle of a visually busy rug.

Getting a CVI diagnosis is not an easy feat, particularly when other medical challenges take precedence and other conditions overshadow. It’s a frustrating but shared experience among parents and caregivers of individuals with CVI, including Sarah Fenster-Goldfarb of the Washington, D.C. area.

“I felt something was a bit off early on,” Sarah says about her pregnancy. She later learned that Luka, her son, would be born with Down syndrome and Hirschsprung’s disease, a rare birth defect. When your child has a diagnosis like Hirschsprung’s disease, you expect and plan for medical challenges associated with the condition. What Sarah couldn’t plan for, however, were the visual difficulties that Luka displayed on days when he experienced acute pain or poor health.

Sarah remembers that there were some days when Luka inexplicably required more support with feeding, stepping onto a bench, and navigating over the threshold in the bathroom. She eventually began to notice that when Luka’s pain was managed and his health improved, he required less support with these visual tasks. “The growth in skills is evident,” she says.

Additionally, “when Luka is facing health challenges, progression in his visual and motor skills plateau. He becomes uncomfortable, demonstrating this with different cries and grunts as he tries to independently navigate his space,” Sarah adds. She would later learn that visual fatigue, and particularly skill regression, is a tell-tale behavior among children with CVI.

Persisting for a diagnosis

By the time Luka was 6.5 years old, Sarah was certain that her son was experiencing undiagnosed visual difficulties. Luka’s significant vision changes when facing health challenges were her “tip-off.” She started to investigate Luka’s vision more.

Despite good ocular health, Sarah observed increasingly clear visual challenges in her son, particularly his depth perception. Due to his undiagnosed Hirschsprung’s, it was even more fleeting and hard to discern but it was always noted by Early Intervention and school. Sarah shares a particular moment of clarity that happened as Luka was recovering from surgery at six years old:

“Luka began independently walking unexpectedly on the playground and hasn’t stopped since. However, after approximately four months of walking, his new independence abruptly plateaued, and Luka began regressing. He would suddenly freeze and need to grab onto something or someone, particularly when he was outdoors. His visual and spatial difficulties were also observed by the sight of a passing dog and its owner has become a source of overwhelming fear for Luka, even at 20 feet away.”

Sarah was not the only one who noticed Luka’s visual difficulties. His occupational therapist (OT) had some concerns, too after Luka participated in an Occupational Therapy Intensive Program. Sarah describes how Luka demonstrated an obscure way of pulling up on a bar, which led her to push for Luka’s OT to try some adaptations for CVI that she learned from reading CVI Now. Once Luka’s OT started incorporating common CVI adaptations, such as adding gentle motion to the presented items, she was amazed by his remarkable progress.

It turns out Sarah’s intuition opened the gateway to a CVI diagnosis. Sarah brought Luka’s success with CVI adaptations to the attention of his “very conservative” pediatrician, who recommended a follow-up visit with a developmental optician—one who was not covered by insurance. Before shelling out costs to pay for an out-of-plan visit, Sarah continued to push for answers and talked to Luka’s other providers.

Soon after, Luka’s physiatrist suggested a neuro-ophthalmologist and Sarah promptly secured an appointment. During the visit, a CVI diagnosis was completely dismissed despite Sarah’s insistence that her son had CVI, and even though “he checked every single symptom for CVI,” states Sarah.

After the visit, she read the doctor’s report. Surprisingly, it stated that Luka does not present with CVI in an office setting. Sarah sprung into action and began to educate her son’s medical team. She helped them understand that stable health and a controlled environment, such as a patient room in a doctor’s office, contribute to Luka’s optimal use of his functional vision. In other words—Luka’s CVI might appear more or less evident, depending on his health and environment.

Sarah’s powerful advocacy led Luka’s geneticist to connect Sarah with Dr. Sandy Newcomb, a long-time teacher of students with visual impairments (TVI). TVIs often play an integral role in supporting an individual to obtain a medical diagnosis of CVI. Despite a CVI dismissal by the recommended neuro-ophthalmologist, Luka’s regular ophthalmologist confirmed CVI after reviewing Dr. Newcomb’s assessment findings, validating Sarah’’s concerns.

Luka sits next to his older sibling and they are both smiling

How a diagnosis creates access

Luka’s diagnosis of CVI confirmed Sarah’s visual observations of her son. She knew that “Luka has always been unique and never followed the typical milestone trajectory of individuals with Down syndrome,” but with an official CVI diagnosis, Sarah shared that she better understood how Luka could access his world. With the diagnosis of CVI, she says that everything began making sense, and it brought “a sense of relief.”

Luka’s CVI diagnosis also brought Sarah and her son community. After hearing from other caregivers in the CVI Now Parents Facebook group, she realized she was not alone in navigating life with a child with CVI.

Still, they face challenges. Sarah shares that CVI seems marginally tougher to navigate than Luka’s diagnosis of Down syndrome. Part of the reason is that CVI is not well understood yet. “There is always an extra layer to educate new doctors and providers, and supporting his visual needs throughout the day can be tiring,” shares Sarah. This requires constant observation, attention to detail, adaptability to unforeseen circumstances, and endless advocacy.

“Our life centers around making sure our older son’s needs are met, managing Luka’s medical and feeding needs, and CVI,” shares Sarah. Each morning starts with a long process before school, up to thirty minutes for breakfast, and then it is time for Luka to catch the bus. While Luka needs support on most stairs, he has confidence and success stepping onto the bus’s black steps outlined in white while holding on to the shiny handrails for support. Luka receives multiple therapies both in and outside of school and requires almost full physical support for everything apart from walking. “Life is interesting,” Sarah quips.

Luka’s strategies for learning and independence

Many families with medically complex children struggle to navigate the intersection of medical care while fostering both fun and independence. “The pandemic was hard on our kids. We are still living in this balance—trying to find a fine line between balancing opportunities and risking his health,” Sarah shares. “There is a fine line between building Luka’s independence by giving him the space to do as he wants while ensuring he doesn’t become overstimulated. I always strive to help him be independent if the likelihood will not provoke a fear response. I constantly find myself asking the question, ‘Am I holding him back? Am I pushing him too much?’ I am always trying to find the sweet spot,” she says.

Striking that balance is a continuous effort, but Luka and Sarah have found strategies and techniques that have helped Luka manage his varying vision abilities due to CVI. First and foremost is a multisensory approach, which allows more access throughout his day. Other CVI adaptations that support Luka include:

Schedules and routines
Simple layouts
Increased time to respond to materials
Reduced clutter
A slant board
A sensory box that creates opportunities for choice-making
Presenting materials within two feet of Luka

Two 2 pound balls in a stainless steel bowl

Simple ways to reduce visual clutter include sorting items into containers like baskets and bowls.

Sarah also started to identify when visual fatigue starts to set in—Luka shakes his head with his eyes partially or fully closed. At that point, he benefits from creating an environment that supports his immediate needs, such as watching videos, listening to music, creating a dark space, and even using a vibrating board. Today, Luka is working on building self-advocacy skills when he is visually fatigued. To indicate that he needs a visual break, he lays his head down or covers his eyes with his hands or an object and often says “no.”

It is important to see Luka in wholeness. I wish every therapist and provider who ever doubted Luka could see him thrive with adaptations.
-Sarah Fenster, CVI Mom

Luka smiles for a flash photograph and the background is dark.

Well, now, they can. Even though the road to a medical diagnosis of CVI was fraught with delays and sometimes overshadowed by the pressing medical urgencies stemming from Luka’s other complex health conditions, Sarah persisted—Just like so many parents and caregivers in our CVI community. Sarah used her observations of Luka’s visual difficulties as concrete evidence, and she tirelessly sought answers while managing Luka’s multifaceted health needs. This is how Luka got his CVI diagnosis and, equally important, how his family ensured better access to education, community, and hope.

Learn more about CVI and Down syndrome and read other CVI stories.