The Child Health Department at Korle Bu Teaching Hospital (KBTH) in Accra has recorded Ghana’s first case of Wilson’s Disease in a 13-year-old boy.
Wilson’s Disease is a rare, fatal genetic disorder, affecting about one in 30,000 people in developed countries. The boy was diagnosed after his mother noticed his deteriorating handwriting, prompting medical investigation.
Professor Ebenezer Badoe, head of the Neuro-Developmental Clinic at KBTH, confirmed the diagnosis following extensive testing.
What is Wilson’s Disease?
Wilson’s Disease is an inherited disorder causing excessive copper accumulation in the body’s organs, particularly the liver, brain, and eyes. The condition results from the body’s inability to eliminate copper properly, leading to toxic buildup that can be life-threatening. Symptoms typically emerge between ages 12 and 23 and include swelling, fatigue, abdominal pain, and poorly coordinated movements.
In this case, the boy’s symptoms were atypical, as he had not experienced jaundice, a common initial sign.
Instead, his condition had progressed to affect his brain and motor skills, causing noticeable changes in his handwriting and gait. Further symptoms included Kayser-Fleischer rings, gray rings around the cornea caused by copper deposits in the eyes.
Treatment and Costs
Lifelong treatment is required to manage copper levels in the body. Professor Badoe noted that the boy’s treatment costs GH¢450 per month, which could enable him to live a normal life. However, stopping treatment could lead to acute liver failure and potentially death.
Genetic Testing and Inheritance
Wilson’s Disease is inherited through autosomal recessive inheritance, meaning both parents must carry the gene for the child to be affected. Advanced genetic testing, funded by the NGO Reg Disease Ghana and conducted in the United States, confirmed both parents as carriers, verifying the boy’s diagnosis.
Appeal for Support
Professor Badoe has appealed to the public for financial support to sustain the boy’s treatment. Despite improvements after two months of medication, continuous treatment is essential to prevent relapse and fatal complications.
He emphasized the importance of early detection, urging teachers and caregivers to report any unusual changes in children’s behavior or abilities. He also commended the boy’s mother for her attentiveness, which led to early medical intervention.
The boy’s mother recounted noticing her son’s reluctance to complete homework and his slow progress in class, which led to consultations with a nurse and subsequent referrals to specialized medical facilities, culminating in the critical diagnosis at KBTH.
To contribute to the boy’s ongoing treatment, please contact the Child Health Department at Korle Bu Teaching Hospital. Your support can make a significant difference in the life of this young boy and his family.