Freddie Tennant, an 11-year-old boy from Wrexham, has found solace in his Xbox due to his macular degeneration, a condition that affects the macula of the retina. Despite the concerns of many parents about excessive technology use, Freddie’s mother, Stacy, believes that it brings him joy and allows him to feel a sense of normalcy. Freddie’s diagnosis of Stargardt disease, a form of macular degeneration, has posed challenges for him and his family. His low vision restricts his ability to read, drive, and participate in contact sports. Stacy shares her frustration with the lengthy process of receiving an accurate diagnosis, as doctors initially suggested autism or dismissed his symptoms altogether.
Stargardt disease, a progressive inherited eye condition caused by a faulty gene, affects one in ten thousand people. Symptoms usually develop around the age of six, but diagnosis often occurs between the ages of ten and 20. Early signs of macular degeneration include a blurred area in the central vision and diminished color vibrancy. However, diagnosing this condition in children can be challenging due to non-standardized symptoms. Consequently, young individuals with macular degeneration do not receive the necessary support and advice to preserve their vision. As Professor Andrew Lotery explains, central vision typically deteriorates over time, leading to difficulties in reading and driving in adulthood.
In Freddie’s case, his sight loss went undetected for six years. Stacy initially noticed a problem when he struggled with speech at a young age. Despite initially being dismissed by doctors and being led to believe it was autism, Stacy persisted in seeking answers. Finally, when Freddie’s teacher expressed concern about his visual impairment and lack of participation, Stacy consulted another optician. Though the optician insensitively suggested Freddie was fabricating his issues, the referral to a pediatric eye specialist led to the diagnosis of macular degeneration.
Stacy recounts the overwhelming experience of learning that Stargardt disease had no cure. This condition, characterized by the buildup of fatty deposits on the macula of the eye, affects one in ten people. Early symptoms include blurred vision and faded colors. Unfortunately, the atypical progression of the disease in children makes it difficult to diagnose accurately, depriving them of the necessary support to preserve their vision.
The initial diagnosis of macular degeneration relies on a thorough examination by an ophthalmologist, particularly one with expertise in inherited retinal diseases. Genetic confirmation can be obtained through a simple blood test, as the disease is caused by a faulty ABCA4 gene responsible for processing vitamin A in the eye. In the case of Freddie, his parents carried the gene without displaying symptoms, and thus genetic testing was necessary to confirm the diagnosis.
Treatment options for age-related macular degeneration are ineffective for Stargardt disease. However, certain lifestyle changes, such as avoiding bright light and refraining from smoking, have shown promise in slowing down the progression of the disease. It is important for individuals like Freddie to receive regular check-ups to monitor their sight for any additional treatable causes of vision loss that may worsen their condition. Until a cure is found, Freddie and others with macular degeneration must rely on adaptive methods and technologies to maintain their independence and engage in activities they enjoy.
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