Roelof’s – A Baby with LCA4
“I think there’s a lot of children out there whose parents simply aren’t able to go through this process to get a confirmed diagnosis of their child’s condition, and I think that’s really sad. That’s where Retina can really make a difference.”
These are the words of Hané, a mother of a one-year-old boy, Roelof, who was diagnosed with LCA4, an ultra-rare genetic retinal condition, at just eight months old. Her journey since then has been one of stress, uncertainty, and, eventually, hope.
When Roelof was three months old, Hané noticed Roelof wasn’t tracking objects or making eye contact. His eyes moved constantly, drawn again and again to the light. Their paediatrician noticed that Roelof had vertical nystagmus and sent them for further testing, and what followed was months of stressful, expensive medical investigation, which included a brain sonar, an EEG, and an MRI scan, tests most families have to pay for entirely out of their own pocket. The tests ruled out any neurological issues, but gave no real answers as to his sight, and the not knowing was its own kind of weight. “It was quite stressful,” Hané recalls, “you can’t put your finger on it, but you know something is up.” It was only the genetic test, that gave the family the answer they’d been searching for: Roelof carries a mutation in the AIPL1 gene, causing LCA4, one of the more severe forms of Leber Congenital Amaurosis, a genetic condition affecting the retina itself.
It was around this time that Hané was referred to Retina South Africa, and she says it changed the course of her family’s journey. Being connected to the organisation offered them valuable support. She speaks especially warmly of Claudette, one of Retina South Africa’s trained peer counsellors, who became a genuine support system. Claudette explained the condition to Hané’s wider family and joined them in a remote consultation with a leading specialist in London and knew exactly which questions to ask. Through Claudette’s assistance and communications with their international contacts, they have been able to contact the right people in a hope that Roelof may be considered for a potential clinical trial/treatment in future. “They’ve definitely opened the right doors for us” Hané says.
Roelof is one of many people, young and old, living with a genetic retinal condition across South Africa. Unfortunately, not everyone is fortunate enough to be able to do what Hané’s family had done to come to a confirmed diagnosis. Many go without psychological support, counselling, or educational advocacy, simply because their families can’t afford it. This is exactly where organisations like Retina South Africa step in, advocating for these causes so that people facing vision impairment have a real chance at a fulfilling life, not despite their condition, but alongside it.
Hané worries that many other families are going through the same thing without the same support and the necessary resources. She’s emphathetic about the importance of genetic testing, it’s the only way to truly know what your child is facing, and whether there’s an opportunity of possible treatment. But she isn’t confident that medical aid or public hospitals make this accessible to everyone. The tests her family went through were expensive, and she has two other children to consider too. For families without financial support, she believes, this kind of testing may simply stay out of reach.
This is Hane’s story, and she wants other parents facing something similar to know: it is not the end of the world. Roelof is living a full life. But as a parent, she still wishes to see him thrive to his greatest potential, and that’s exactly why an opportunity like this, support that helps a family get answers, matters so much. It’s sad, but it’s also hopeful, hope for a better future, for Roelof, and for the families who come after him.
Reflecting on Roelof’s condition, she wants other parents facing something similar to know that blindness is not as devastating as it may seem at first. Being blind does not mean that someone’s life is worth less and with the right support and effort in their development, children like Roelof is fully capable to thrive and reach their full potential They hope that in sharing Roelof’s story, it will raise some awareness and inspire others. For them, it would be wonderful if Roelof can participate in a clinical trial soon, not only to benefit him, but also to help further medical advances in this field for future generations to come. Retina South Africa continues to support them on this journey to ensure that Roelof receives the best possible care.
Help families like Roelof’s: GIVE TODAY
