New Hope for Children Living with Rare Inherited Retinal Disease
Eight-year-old Charna, from Serbia, had always been fascinated by bright lights and vivid colours. As she grew older, however, her mother, Dragana, became increasingly concerned as everyday tasks such as reading, recognising faces and navigating familiar places became more difficult.
"It was heartbreaking to watch her struggle with things other children took for granted," Dragana recalls. "We knew we needed answers."
The family's search for answers led to extensive investigations, including genetic testing through specialist laboratories in Croatia and Finland. The results confirmed that Charna had RPE65-related inherited retinal dystrophy, a rare genetic condition that causes progressive sight loss but can be treated if diagnosed in time.
"We were incredibly fortunate," says Dragana. "It felt like a miracle to learn that Charna had a gene mutation that could be treated."
The diagnosis not only provided answers, it also opened the possibility of gene therapy. Charna became the first child from Serbia to be considered for treatment at Great Ormond Street Hospital (GOSH) International and Private Care, beginning a complex process to secure funding through Serbia's Ministry of Health.
A Race Against Time
For families affected by progressive retinal disease, timing is critical. As retinal cells continue to deteriorate, opportunities for treatment become increasingly limited.
Securing funding through Serbia's Ministry of Health took almost two years, during which time Charna's vision continued to worsen.
"Every day felt like a race against time," Dragana explains. "We knew that waiting meant losing more of her precious vision."
Once funding was approved, Charna travelled to Great Ormond Street Hospital (GOSH) International and Private Care in London, where she underwent specialist assessment before receiving gene therapy to help preserve her sight.
Specialist Care at GOSH
After arriving at GOSH, Charna underwent a series of specialist assessments to confirm she was suitable for treatment.
Under the care of consultant ophthalmologist Dr Robert Henderson, Charna and her family gained a deeper understanding of the condition and the opportunities offered by gene therapy.
RPE65-related inherited retinal dystrophy affects the retinal pigment epithelium, which plays a vital role in the visual cycle. Without a functioning RPE65 protein, photoreceptor cells progressively lose their ability to function, often leading to severe sight loss during childhood or adolescence.
"Dr Henderson explained everything with honesty and compassion," says Dragana. "Hearing that this treatment represented our only opportunity to preserve Charna's vision was difficult, but it also gave us hope."
Charna's care was supported by a multidisciplinary team, including ophthalmologists, specialist nurses, anaesthetists and allied health professionals, who worked together throughout her treatment and recovery.
Alongside her treatment, Charna took part in festive activities, including a Christmas choir, giving her the opportunity to enjoy time away from medical appointments and procedures.
"It was wonderful to see her singing and laughing," Dragana reflects. "For a little while, she could simply be a child."
These experiences became an important part of the family's stay, helping to reduce anxiety and create positive memories during a challenging time.
A Landmark Procedure
Charna's first surgery took place in December 2023.
In the days before surgery, the family balanced hope with understandable apprehension. The clinical team provided detailed guidance at every stage, ensuring that Charna and her parents felt informed and supported.
The festive atmosphere throughout the hospital offered additional comfort on the day of surgery. Despite the challenges ahead, Charna approached the experience with remarkable courage.
Following the procedure, she demonstrated extraordinary resilience, including remaining in a flat position for 24 hours to support her recovery.
"She was incredibly brave," says Dragana. "She focused on the future and everything this treatment could mean for her life."
A New Beginning
Just one week after surgery, the family received the news they had been hoping for. Charna was ready to return home.
"We had waited so long for this moment," Dragana says. "It felt like the beginning of a completely new chapter."
The family expressed their gratitude to Serbia's Ministry of Health for funding the treatment and to the GOSH team for the compassionate care they received throughout their stay.
"Without that support, none of this would have been possible," Dragana explains. "Every member of staff made us feel safe, welcomed, and cared for."
Looking Ahead
In the months following treatment, Charna began adapting to changes in her vision and celebrating important milestones.
At follow-up appointments, she enthusiastically shared her progress, telling her clinicians that she now felt as though she had "two eyes again" rather than "an eye and a half."
Although adapting to changes in vision would take time, the early signs following treatment were encouraging.
For Dragana, the experience reinforced the importance of persistence, advocacy and hope.
"My message to other parents is simple: keep going and keep believing," she says. "You have to fight for your child's future, because every possibility is worth pursuing."
A Story of Resilience Beyond Borders
Today, Charna and her family have returned to Serbia with renewed optimism.
While visual impairment remains part of her life, it does not define who she is.
"Charna is joyful, strong, and full of life," says Dragana. "We will continue this journey together, one step at a time."
Charna's story highlights the impact of international collaboration, specialist expertise and family determination. Through GOSH International and Private Care, children with rare and complex conditions can access multidisciplinary care and advanced treatments that are helping to improve outcomes for families around the world.
