A 13-year-old boy has been diagnosed with Wilson’s disease, a rare genetic disorder, at the Child Health Department of the Korle Bu Teaching Hospital (KBTH). This is believed to be the first recorded case in Ghana.
According to Professor Ebenezer Badoe, Head of the Neuro-Developmental Clinic, Department of Child Health, KBTH, the boy’s condition was detected after his mother noticed his deteriorating handwriting. Following several tests, Prof. Badoe confirmed the diagnosis, stating that the disease is treatable through medication, but expressed concern about the high cost involved.
Wilson’s disease is an inherited disorder that causes copper to accumulate in organs, leading to symptoms such as swelling, fatigue, abdominal pain, and uncontrolled movements. If left untreated, it can lead to life-threatening complications.
Prof. Badoe explained that the boy’s condition had progressed beyond the initial jaundice stage, affecting his motor skills and gait. Advanced genetic testing, funded by Reg Disease Ghana, confirmed the diagnosis and identified the autosomal recessive inheritance pattern.
While the disease is rare, affecting one in 30,000 individuals in developed countries, Prof. Badoe emphasized the importance of early detection and treatment. With proper medication, the boy can lead a normal life, but the cost of treatment poses a significant challenge.
