A journey of resilience and adaptability – life with aniridia

About aniridia

Aniridia is a congenital eye disorder that affects the development of the iris – the coloured part of the eye – and can impact other parts of the eye, such as the cornea, lens, and retina. As a result, people with aniridia often have reduced vision and increased sensitivity to light. The condition is typically caused by a mutation in the PAX6 gene, which plays a key role in eye development. Although it cannot be cured, early intervention, regular eye care, and supportive measures can greatly help manage its symptoms and protect the remaining vision.

“When my son was first diagnosed with aniridia, I felt lost and alone. Hearing other parents’ stories helped me find strength and hope, and that’s what I want to give back to others.”

“I think it’s very important to share my story as a parent of a visually impaired child, because stories create understanding and connection. When my son was first diagnosed with aniridia, I felt lost and alone. Hearing other parents’ stories helped me find strength and hope, and that’s what I want to give back to others,” Irma explains.

The diagnosis journey

When did it become clear that her son had a visual impairment? “My son was born prematurely, so we stayed in the hospital a bit longer than usual. During that time, he underwent all the necessary medical checkups. I remember very clearly – it was about three or four days after his birth, in the middle of the night – the doctors took him for some routine eye examinations. Shortly after, a nurse came and told me that the doctor wanted to speak with me.

When I met the doctor, he told me that my son had been diagnosed with a rare genetic eye condition called aniridia. He explained that it was too early to know how much my son would be able to see in the future, or what his visual development would be like. At that moment, I couldn’t fully understand what it meant. I remember thinking there must be some kind of surgery or treatment to fix it – something that could make his eyes “normal” again. It was very difficult to accept that there was no cure, and that this condition would be something we would have to learn to manage throughout his life.”

“It was very difficult to accept that there was no cure, and that this condition would be something we would have to learn to manage throughout his life.”

Irma mentions they were also very lucky, because the doctor who performed the evaluation already knew about aniridia – which was quite remarkable, because in a small country like Lithuania, there are only a few doctors familiar with this rare condition. Irma mentioned: “Thanks to his knowledge and quick diagnosis, we were able to begin seeking the right medical advice and support from the very beginning.”

Daily adjustments

After learning about her son’s visual impairment, many aspects of their daily life changed – especially in very practical ways. “Suddenly, our schedule was filled with visits to doctors and specialists. We had to do genetic testing and start early intervention programs. We began seeing a range of specialists, including neurologists, kinesiotherapists, and nephrologists. Every few months, we had routine check-ups at the hospital to monitor his eyes and kidneys. It felt as if we became regular guests in hospitals and clinics.”

Next to adjusting to daily life, they also had to adapt their home and routines to their son’s specific needs. Irma explains: “Because of his photophobia – a strong sensitivity to light – we could no longer leave the house without his sunglasses and a hat. At home, we had to make sure our lighting was soft and suitable for him. We added covers to windows and adjusted the lighting in every room to create a safe and comfortable environment. Even our car needed practical window shades so he could sit comfortably during trips.”

“When he was little, his limited vision also influenced how we played and learned together.”

“When he was little, his limited vision also influenced how we played and learned together,” Irma adds. “We began using only high-contrast toys and materials – black and white objects, bold shapes, and simple patterns – so that he could see them more clearly. Over time, we learned how small adjustments like these could make a big difference in helping him explore the world and feel confident in his surroundings. Although these changes required effort and constant adaptation, they also helped us understand how to support his development and independence in everyday life. It has been a journey of patience, creativity, and continuous learning for our whole family.”

Challenges

Many of the challenges she faces as a mother of a child with visual impairment come from everyday situations – the small things that most people don’t even think about:  “When my son was little, even simple daily routines like getting dressed were difficult. He often struggled to tell the front from the back of his clothes, and sometimes he still puts on his T-shirt or shorts backwards. It might seem like a small thing, but it’s one of those daily reminders that his vision affects many aspects of independence.”

Another common challenge is when he drops something on the floor. “If the floor isn’t one solid color  –  for example, if there’s a rug or a patterned surface  – it becomes almost impossible for him to find small objects. We even joke at home that our rug “eats all of his erasers,” because once they fall onto the fluffy carpet, they simply disappear for him. We eventually started buying very bright, colorful erasers so he could see them more easily  – a small but practical adaptation that helps a lot.

“We’ve lost count of how many hats we’ve accidentally left behind in different places.”

Going outside also requires constant awareness and preparation. “Because of his light sensitivity, he always needs a hat and sunglasses, and we’ve lost count of how many hats we’ve accidentally left behind in different places.”

“Over time, we’ve learned to laugh at the little challenges and to celebrate the progress –  every step toward independence feels like a big achievement.”

All of the small things together shape their daily life, requiring patience, planning, and flexibility. “Over time, we’ve learned to laugh at the little challenges and to celebrate the progress –  every step toward independence feels like a big achievement.”

Not only at home, but also at school: “Ensuring that my son receives all the necessary support in education is essential for his development and confidence. We have regular meetings with the school’s learning support team to discuss his progress and needs. Together, we prepare his learning environment — adjusting the lighting, seating, and materials so that he can learn comfortably. His textbooks and learning materials are adapted for visually impaired students, and we make sure he uses all the necessary tools and aids available to him.”

It’s definitely more challenging for visually impaired children to keep up with their peers, especially when it comes to reading and writing speed. “Everything takes a bit longer and requires extra concentration. That’s why, as parents, we have to not only adapt our lives at home but also make sure that all the right adjustments are made at school.”

Navigating the challenges

“What has helped me most in navigating these challenges is a combination of knowledge, support, and community. From the very beginning, I realized that information is power – the more I understood about aniridia and visual impairment, the better I could support my son. I spent a lot of time learning about the condition, reading research, and talking to specialists so I could make informed decisions about his care and development.

Connecting with other parents who have children with aniridia has also been incredibly helpful. Talking to someone who truly understands what you’re going through – who has faced the same fears and practical challenges – gives you strength and perspective. After learning more about aniridia and connecting with families abroad, I decided to create an NGO called Aniridia Lithuania. My goal was to bring together all the families in Lithuania who have a member with aniridia, to build a small but supportive community where we could share experiences, knowledge, and encouragement.”

Aniridia Lithuania and Aniridia Europe

Creating the association made a huge difference. “As an organization, we could reach out to doctors and scientists – both in Lithuania and in other countries – and start meaningful collaborations. It gave us more visibility and more power to advocate for people with aniridia. We were no longer just individual parents trying to get answers; we became a recognized voice for our community.”

“It also gives us hope – knowing that we are not alone, and that together we can make a real difference.”

“Later, our association joined the umbrella organization Aniridia Europe, which brought us into an even larger international network. Being part of this community has given us access to more information, resources, and opportunities to work together on projects that improve the lives of people with aniridia. It also gives us hope – knowing that we are not alone, and that together we can make a real difference.

Of course, my son himself continues to be my greatest inspiration – his courage and determination remind me every day why this work matters so much.”

Hope for the future

“I have very high hopes for the Restore Vision project. I believe it could bring real change for people living with rare eye diseases, including aniridia. My biggest wish is that the research will result in a ready, working therapy that can reach patients as soon as possible. For families like ours, time is so important. Every new development gives us hope, but we all dream of the day when a real treatment is available and accessible to those who need it,” Irma mentions.

She also focuses on the broader impact of the project: “I also hope that Restore Vision will become a strong foundation for future projects – that it will inspire more collaboration between scientists, doctors, and patient organizations, and open the door to solutions for other rare diseases as well. In the end, I believe this project can bring not only scientific progress but also hope – hope for a better quality of life, for clearer vision, and for a brighter future for everyone living with rare eye conditions.”