Ghana's first Wilson's disease patient struggles for treatment amid financial hardship

Mark's mother, Faustine Worwornyo, recounts the gradual onset of symptoms in her son's life. Initially appearing as innocuous stumbling while walking and throat swelling at the age of ten, the disease soon manifested in severe deterioration of his writing skills, a telltale sign of Wilson's disease.

The progression of the disease has subjected Mark to stigmatization, with teachers and even the headmaster at his school resorting to mockery. Faustine recalls the heartbreak of witnessing her son struggle to articulate his thoughts, a common symptom of Wilson's disease, which further exacerbates the challenges he faces in daily life.

The road to diagnosis has been arduous for the Worwornyo family, typical of the experiences in resource-constrained settings like Africa. Six months ago, they received the long-awaited diagnosis at Korle Bu Teaching Hospital – excess copper retention in Mark's brain and liver, a hallmark of Wilson's disease.

The revelation left Faustine devastated, especially upon learning from doctors that the disease could not be treated in Ghana. Professor Eben Badoe, head of neurology at Korle Bu Teaching Hospital, emphasizes the critical need for timely treatment, warning that Mark's life is at risk without intervention.

Penicillamine, a medication known to slow the disease's progression, offers some hope for Mark. However, the cost of around 150 cedis per day presents an insurmountable barrier for the Worwornyo family, reliant on meagre incomes from masonry work and petty trading.

Despite the challenges, Mark's plight sheds light on the broader issues surrounding rare diseases in resource-limited settings. The lack of access to affordable treatment options exacerbates the suffering of individuals like Mark, emphasising the urgent need for improved healthcare infrastructure and support systems to address such cases effectively.