LIGHT IN THE DARKNESS: From an LCA Diagnosis to Advocacy in Turkey

Toprak Kulekci is a vivacious, seven-year-old budding ballerina who lives with her parents in Ankara, Turkey. When she was born in 2017, her father, Haydar, a software engineer, and mother, Gizem, an agricultural engineer, had no forewarning that their daughter could inherit a blinding retinal disease. However, with early concerns about her eyesight, they later discovered that Toprak had only five percent vision as a result of GUCY2D-associated Leber congenital amaurosis (LCA1). Thanks to her parents’ teamwork and tenacity, Toprak is thriving in school, taking ballet lessons and performing on stage with her class.

THE BEGINNING
Haydar credits Gizem with having unique insights about their daughter. One morning, close to the end of her pregnancy, Gizem woke up feeling ill. “She said that something was wrong. The baby usually moved after she ate sweet things, but that morning, nothing happened after breakfast,” Haydar explained. A trip to the hospital resulted in an emergency cesarean section. “The umbilical cord was wrapped around Toprak’s neck eight times. If my wife hadn’t been paying attention to all of their little habits, we would have lost our daughter.”

Then, about a month after her birth, Gizem noticed that Toprak wasn’t making eye contact or closing her eyes when breastfeeding. “We waited about 40 days,” Haydar said, “and then we took her to the doctor. He said not to worry. Her eyes will get better.” A follow-up exam five months later showed no improvement.

SEEKING A DIAGNOSIS
The doctor’s evaluation ignited the couple’s problem-solving instincts. Determined to find an answer, they took Toprak to five or six doctors over the next year and a half. “Finally, one doctor said it could be LCA, and this was our first real answer,” Haydar said. “That day, we went to a research center for genetic testing, and several months later, it was confirmed that she had LCA1.”

With little to no information about LCA available in Turkey, the Kulekcis turned to the internet for answers. Haydar was elated when he discovered Shannon Boye, PhD, professor and chief – Division of Cellular and Molecular Therapy, Department of Pediatrics at the University of Florida. Dr. Boye and her team were researching an adeno-associated viral vector (AAV) delivered gene therapy treatment for LCA1. Not only was there someone who had deep knowledge about LCA1, but her lab was also working on a possible treatment. “That night, I emailed Dr. Boye,” Haydar said. “A couple of hours later, I received a response. In that moment, I cried, filled with hope again. It was so important to hear from a doctor on the other side of the world who knew about this disease and might be able to help fix it.” Haydar, who is fluent in English, asked Dr. Boye for her research papers so he could learn more about Toprak’s condition. He also contacted Penn Medicine, regularly sending them Toprak’s exam reports. Meanwhile, Toprak was receiving help at a local rehabilitation center. At the rehabilitation center and home, the focus was on helping her use and “love the light and contrasts” she could detect.

THE INCLUSIVE AND ACCESSIBLE LIFE ASSOCIATION
Through his research, Haydar realized that some organizations in other countries are focused on helping the blind and visually impaired. Others, including Hope in Focus (HIF), were dedicated to providing information and support for specific conditions such as LCA. Excited by the content on the HIF website, Haydar translated some of its articles into Turkish, putting them out to the media and on his blog while asking friends to share them.

“I realized what other organizations are doing to help the visually impaired, and I thought we needed to do this in Turkey,” he said. “Hope in Focus and Dr. Boye were role models for me, and in 2021, I created the Inclusive and Accessible Life Association. People with limited vision, blindness, or LCA all face similar issues, so our goal is to provide information and resources to anyone who is visually impaired in Turkey.”

KINDERGARTEN COMPANION
Determined to continually improve Toprak’s quality of life, the Kulekcis’ information needs accelerated as she got older. “About two years before she went to school, I started researching what was available for education and how we could help her,” Haydar explained. “Many blind or visually impaired children in Turkey don’t go to kindergarten because families are not educated about it.”

Toprak’s kindergarten experience provided Haydar with firsthand information he could share with other parents. “When she started school, they told us that they didn’t know what they could do to help her. I took a two-month vacation from my job and sat with her every day in class, helping the teacher understand how to help my daughter,” Haydar said as he described perching on a tiny chair next to Toprak.

“I told the teacher that Toprak could handle everything and that she could help the teacher help her. I didn’t solve my daughter’s problems for her. I taught her how to solve them on her own,” he said. At the end of two months, Toprak told her father that she was fine and he should go home.

Haydar encourages other parents of visually impaired children to send their children to school and not be fearful about what might happen. He emphasizes the importance of parents allowing their children to solve some of their problems. “Many children who are visually impaired are less fearful than their parents. And most of them can manage and do much more than their parents expect.”

LET’S DANCE!
Living across the street from a ballet school gave Toprak an unexpected opportunity. Her parents’ discussions about the school’s problematic traffic jams sparked her curiosity. “What is ballet?” she asked.

After doing their best to describe ballet, Haydar found a high-contrast video of a performance to show Toprak. The video resulted in a torrent of questions about how to do ballet, whether there were special clothes for ballerinas, and whether she could take ballet lessons.

“We realized this could be an opportunity for her,” said Haydar. “But we didn’t have any experience with ballet. The school said we could do it but that they didn’t know how to teach her. So, I said, I am here for this problem!” Haydar began attending the classes, helping Toprak stretch and move her body correctly. “We’d get additional help from the teacher to explain how and where to put her foot or leg using words and moving her body into the correct position.” Haydar noted that ballet has additional benefits because visually impaired children often have difficulty understanding where their body is in space. “Ballet is not just visual but also a feeling and understanding of how the body works,” he said.

Toprak’s ballet experience has thus far culminated in two performances with her classmates, each before a thousand people at a performing arts center. “We tested her in the classes, and she hit the mirror a couple of times, but the teacher said not to worry. She can handle it,” Haydar said. Anxious about her first performance, the Kuleckis sat close to the stage in case she fell off. However, Toprak’s classmates successfully guided her when needed.

“When she was on the stage, she was like an angel walking and running around with her friends helping her,” Haydar said, his voice vibrant with joy. “Toprak solved some of her problems, and when she couldn’t see where to sit or stand, she gave a friend her arm. She didn’t give up! Isn’t this the solution for all of us—learning to ask for help and helping each other?”

HIF FAMILY CONFERENCE
In 2023, the Kuleckis attended the HIF Family Conference in Indianapolis. Haydar said it was a significant event for them to attend. “We met many people there with LCA and some with the same gene as Toprak. We also met Dr. Boye there, and it was like a dream for us,” he said. “To think that we sent an email in 2019 to someone in the US who gave us answers and information about our daughter’s LCA, and now we see that person is real.”

LIFE CONTINUES
In Turkey, schools often lack the knowledge or resources to meet the needs of visually impaired students, and Haydar often relies on his engineering background to find solutions. For example, Toprak finished first grade in June of this year. But she at first struggled to see the blackboard. Her father put a camera in front of the board, sending pictures to Toprak’s tablet so she could zoom in on the content. She also reads books using a digital magnifier, and the rehabilitation center teaches her Braille. The Kuleckis are grateful that Toprak’s last eye exam indicated stable vision, at least for now.

Gizem and Haydar work together to forge the best quality of life for Toprak that they can while sharing information and offering support to others through the Inclusive and Accessible Life Association. “We are a great family team! Gizem identifies a problem, I am the problem solver, and Toprak is a hardworking teammate who keeps us learning new things,” Haydar said.