Amanda Geffre gripped the steering wheel of her car as she fought back tears. The two-hour trip home from Fargo, ND, with her two-year-old daughter, Pepper, felt far longer than the trip from their home in Oakes earlier that day. Pepper’s appointment with the Fargo pediatric ophthalmologist was supposed to be for updated glasses or maybe bifocals. Amanda hadn’t expected new information, and her mind now churned with the implications of the doctor’s observations.

She called her husband, Jordan, struggling to find the words to explain what the doctor had said: Pepper had permanent vision loss and damage to her retinas. “I was confused and in shock. The doctor mentioned grieving, but I couldn’t grasp what he meant,” Amanda recalled.

For several years, the Geffres had been trying to uncover what was impeding their daughter’s development. “When we discovered that she had some vision loss, we hoped that glasses and the state’s early intervention program would meet her needs,” Amanda said. “We never expected a diagnosis of a rare genetic condition.”

Early Questions and Uncertainty

Connor, the Geffres’ first child, was born in 2014 and met all his milestones. But when Penelope (“Pepper”) arrived in 2017, Amanda and Jordan quickly noticed she lagged behind. “When she was about six months old, our pediatrician told us she should be evaluated,” Amanda said. “At 11 months, she wasn’t crawling, and she qualified for early intervention. But we still didn’t know the cause.”

Pepper disliked getting dressed and had separation issues when she couldn’t hear Amanda’s voice. “She also avoided physical activities or touching things,” said Amanda. “We wondered if she had hearing, or balance problems, or maybe a sensory disorder.”

Pepper’s inconsistent behaviors made it difficult to pinpoint a cause. For example, when she started eating finger food, sometimes she’d grab it right away, at other times, Amanda would have to tap on the tray or point it out before she’d find it. If she dropped a toy, she might have a hard time locating it, but not always.

When Amanda mentioned these behaviors to the early intervention team, they suggested she might need glasses. An appointment with a local eye doctor, when she was about 18 months old, confirmed that need. “Once she had glasses, Pepper started walking, and we thought the problem was solved,” Amanda recalled. “But she continued to trip or walk into things. It seemed like the glasses weren’t working, and we felt that something wasn’t right.” It was then that their local eye doctor suggested a stronger prescription or bifocals and referred Pepper to the pediatric ophthalmologist in Fargo.  

On the Road…Again  

Much to Amanda’s surprise, the pediatric ophthalmologist said a new prescription was the least of his worries. “He said Pepper had vision loss and that her retinas weren’t healthy,” Amanda explained. “He also wanted to schedule a brain MRI to see if something brain-related might be causing her vision loss.” Although it felt somewhat contradictory, the couple hoped the MRI might reveal something that could restore Pepper’s vision. But the test was clear, and the conclusion was that their daughter’s vision loss was genetic.

The next referral was to a specialist in the Twin Cities (Minneapolis/Saint Paul, MN). That specialist wasn’t concerned, saying that Pepper had moderate vision loss. But he wanted to evaluate her retinal function with an electroretinogram (ERG). Unfortunately, the test was delayed by the COVID shutdown. 

“Pepper had the ERG somewhere between ages two and three,” said Amanda. “Afterwards, the doctor said he was worried about her vision and that we should connect with the North Dakota School for the Blind. He told us genetic testing was expensive and he didn’t think it was necessary.”

Genetic Testing

Fortunately, their local eye doctor was able to arrange for free genetic testing, and Pepper was subsequently diagnosed with the recessive IQCB1/NPHP5 mutation that causes Leber congenital amaurosis (LCA11). In addition to vision loss, this mutation can cause end-stage kidney failure.

“Getting Pepper’s LCA diagnosis consumed me,” Amanda said. “It was all I could think or talk about. I Googled everything. No one could tell us what her vision might eventually be like.” 

Amanda and Jordan underwent genetic testing to determine whether they were carriers or whether Pepper’s LCA was due to a spontaneous mutation. “When we found that we were carriers, I was in my second or third trimester with our son, Jade,” Amanda said. “We now knew that he had a 25 percent chance of having LCA.” Jade, tested soon after his birth in 2021, did not have LCA.

Pepper’s Progress

The support from the state’s early intervention program and vision services was key to Pepper’s development. “I was so relieved when she started walking and using a kind of rolling plastic rectangle that they provided,” said Amanda. “She could move and run because she understood that this thing he was pushing would detect if there was something in the way. It really helped her developmentally.”

Then, just before Pepper turned three, their school district opened a special education preschool. Amanda said it was a battle for Pepper to qualify because the division teacher didn’t understand her diagnosis or the extent of her vision loss. Once that problem was rectified, she qualified and began learning Braille and how to read and write.

As time went on, the Geffres grew comfortable with Pepper’s development. She began using a cane and was telling her parents what was and wasn’t working. “She was doing so well in school, we kind of forgot that we had a risk of LCA if we had another child.”

Baby #4…

Pregnant with their fourth child, Maverick, the Greffes faced the possibility that this baby could have LCA. “I told myself if it happened again, we knew what to do, who to contact, and who would need to work with this child,” Amanda said.

Maverick was born in 2024 and was diagnosed with LCA11. “Even though we were somewhat prepared, it was still very hard,” recalled Amanda. She called the early intervention team and vision services, and Maverick qualified right away.

Although Maverick’s vision was better than Pepper’s, he still had developmental delays. “I was a little disappointed since I hoped that by starting him early, he wouldn’t be as delayed. He was still not walking at 17 months, even though he had gotten glasses at four months old,” Amanda said. “But his physical therapist said that a child with visual impairments is going to be delayed and will have a different developmental timeline.”

When Maverick was about six months old, the Geffres took him to the same pediatric ophthalmologist in Fargo who had seen Pepper. But their visit was confusing. “He didn’t think the genetic test was correct and said that Maverick’s retinas looked fine, and that maybe he had retinitis pigmentosa. That made us wonder if his genetic testing could have been messed up,” Amanda said. 

Finding Clarity 

A turning point occurred when the Geffres met another family in North Dakota with a son who had LCA, and their recommendation provided Amanda and Jordan with a vital resource. “They were seeing a specialist in retinal diseases in Philadelphia, and encouraged us to see him,” Amanda said. “I wasn’t sure if he would see Maverick because he was so young, but we really needed someone to tell us what was going on! So, we reached out to the specialist in Philadelphia, and he said he would see an infant.”

Both children were evaluated by Tomas Aleman, MD, of the Scheie Eye Institute, which is part of Penn Medicine at the University of Pennsylvania. “He said that Pepper and Maverick had the most vision of children with LCA that he has seen to date. That was somewhat comforting, knowing that at this point they are on the low end of the spectrum and are pretty fortunate,” Amanda said.

The Geffres know that both children will have more vision loss, but for now, they take comfort in knowing that their children’s diagnosis is accurate. “Dr. Aleman explained that vision loss with LCA11 is generally a slow progression with loss and then a period of stability.” Because LCA11 can also cause kidney failure, both children are being regularly monitored via bloodwork and ultrasound.

Life in Motion

The entire family, including Amanda’s parents, attended the Hope in Focus Family Conference this past June. “It was so good! My kids really enjoyed it, and we met another family with a daughter who has LCA and lives in Iowa. She is two or three years older than Pepper, but they made a connection and have been talking,” Amanda said. “It’s been great for Pepper because she feels like she has an older friend, and they have the shared experience of LCA.”

Despite the Geffres’ initial frustrations, the family is forging ahead. Bright-colored tape marks the stairs and other obstacles in their home. It is an ongoing challenge to keep the furniture in the same place — their energetic children, Connor (age 11), Pepper (age 8), Jade (age 4), and Maverick (age 1), love rearranging it. Everyone is adjusting and adapting to the unexpected challenges and joys that arise in a family living with LCA. “We don’t know exactly what the future holds, but we’re facing it together,” said Amanda.