In a remarkable yet heartrending development, the Child Health Department of Korle Bu Teaching Hospital (KBTH) has diagnosed a 13-year-old boy with Wilson’s Disease, marking a significant milestone as it is believed to be the first documented case in the country.
This rare genetic disorder, which affects approximately one in 30,000 people in developed countries, was identified after the boy’s mother, a trader, noticed a worrying decline in his handwriting.
The diagnosis was made by Professor Ebenezer Badoe, Head of the Neuro-Developmental Clinic at the Department of Child Health, KBTH.
Despite the disease’s potentially fatal nature, Prof. Badoe emphasizes that it is treatable.
However, the financial burden is considerable, with monthly medication costs amounting to GH¢450 to sustain the young patient’s life.
Wilson’s Disease is an inherited disorder that leads to excessive copper accumulation in vital organs, particularly the liver, brain, and eyes.
The condition, caused by the body’s inability to eliminate copper properly, can result in life-threatening complications if untreated.
Symptoms typically emerge between the ages of 12 and 23, manifesting as swelling, fatigue, abdominal pain, and impaired motor coordination.
In the case of the young boy, his symptoms deviated from the norm.
Instead of presenting with jaundice, a common early sign, his condition advanced directly to affecting his brain, leading to a loss of motor skills and a noticeable change in his handwriting and gait.
This prompted Prof. Badoe to conduct extensive tests, including advanced genetic testing for both the boy and his parents in the United States, funded by Reg Disease Ghana, a non-governmental organization. .
The results confirmed that both parents carried the genes responsible for the autosomal recessive inheritance of Wilson’s Disease.
The boy’s health had deteriorated significantly by the time of diagnosis, and he now requires lifelong medication to prevent acute liver failure and potential death.
Despite showing signs of improvement after two months of treatment, the high cost of medication poses a constant threat to his health.
Prof. Badoe urgently appeals to philanthropists, well-meaning Ghanaians, and institutions to assist in funding the boy’s treatment. He stresses that discontinuing medication could lead to rapid health decline and death.
He also highlights the importance of training teachers and caregivers to recognize early signs of health issues in children for timely diagnosis and intervention.
The boy’s mother, whose vigilance led to the life-saving diagnosis, shared her emotional journey.
Concerned by her son’s refusal to complete homework, she sought help from various sources, including a nurse at her church and eventually the Accra Psychiatric Hospital.
The initial MRI results shocked the medical staff, leading to the boy’s transfer to KBTH where Wilson’s Disease was confirmed.
This story is a poignant reminder of the crucial role early detection and community support play in managing rare diseases.
The young boy’s fight for survival hinges not only on medical expertise but also on the compassion and generosity of society.
Story by: Joshua Kwabena Smith
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