The Child Health Department of the Korle Bu Teaching Hospital (KBTH) has recorded a rare case of Wilson’s Disease in a 13-year-old boy.
The condition, believed to be the first in the country, is said to affect one out of 30,000 population in developed countries. The boy was diagnosed with the fatal genetic disease after his mother, a trader, detected his deteriorating handwriting.
The Head, Neuro-Developmental Clinic, Department of Child Health, KBTH, Professor Ebenezer Badoe, who made the diagnosis after several tests, however, said the disease was treatable.
He said the young boy could live a normal life through medication, but was concerned about the cost involved, saying the patient needed GH¢450 every month to stay alive.
Wilson’s disease
Wilson’s disease is an inherited disorder that causes too much copper to accumulate in the organs. It causes copper levels to build up in several organs, especially the liver, brain and eyes.
In Wilson’s disease, copper is not eliminated properly and instead accumulates, possibly to a life-threatening level. Symptoms typically begin between the ages of 12 and 23 and they include swelling, fatigue, abdominal pain and uncontrolled or poorly coordinated movements.
Treatment often includes medication that can prompt the organs to release copper into the bloodstream. Once it is in the bloodstream, it can then be eliminated from the body through the kidneys.
Diagnosis
Prof. Badoe said he became alarmed when he got into contact with the boy because mostly, the first symptom of the disease presented with jaundice before affecting the other organs such as the liver and kidney.
However, he said, although the boy did not contract jaundice, his condition had crossed the jaundice stage and entered his brains causing him to lose his motor skills, hence the deteriorating handwriting, and a change in his gait.
The pediatric neurologist said because the disease was rare and needed both parents to have the genes to be affected, he requested an advance genetic test for both parents and the child which was done in the United States of America (USA) at a cost of $8,000, with funding from a non-governmental organisation, Reg Disease Ghana.
He said the test came back positive for both parents, which confirmed that the boy was presented with an ‘Autosomal recessive inheritance’, which is the way a genetic trait or condition is passed down from parent to child.
Prof. Badoe said unlike sickle cell disease which was also an autosomal recessive inheritance disease, the condition was common among the population, and therefore, was easy for one to be diagnosed with it, unlike the Wilson’s disease, which he said, was a rare case.
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