Accra,– The Rare Disease Ghana Initiative (RDGI) has appealed to government and stakeholders in health for diagnostic equipment for rare diseases.
It said the lack of the equipment was worsening the conditions of persons with the diseases, with an untold financial burden on their families.
Mr Joseph Abenney Yeboah, the Board Chairman of RDGI, said inaccurate diagnosis and poor treatment were affecting the sociability of persons with the disease due to stigmatisation and said it was time government intervened.
He made the appeal in an interview with the Ghana News Agency when the RDGI lit a light in Accra on Monday to commemorate the 2022 Rare Disease Day to raise awareness on the disease and draw attention to policy makers on how to help such patients.
Rare diseases, also referred to as orphan diseases, are ailments that affect a small percentage of the population.
They include sickle cell, cerebral palsy, autism, epilepsy, hydrocephalus, hemophilia (inability of blood to clot), thalasemmia (absence of adequate haemoglobin), spinal muscular dystrophies, sickle cell and disproportionate short stature.
“We wished the NHIS can help people with rare diseases, but it only covers consultations and a few things.
“The biggest challenge, however, is that we don’t even have the labs and equipment for accurate diagnosis to determine what may be wrong with them. Moreover, NHIS doesn’t cater for their conditions,” Mr Yeboah lamented.
The Board Chairman cautioned against stigmatising people with rare diseases, adding: “When you stigmatise such a person, you bring the person down the more. In a way, we are rather piercing the knife deeper into the person’s heart with stigmatisation.”
Dr. Yvonne Nana Ama Brew, Head of Pediatric Neurodevelopmental Clinic, Greater Accra Regional Hospital, said samples of suspected individuals often had to be taken outside the country for definite testing at high cost.
Other than that, she said, doctors only considered the condition of the patient and assumed he or she might have a form of rare disease, which often resulted in inaccurate diagnosis and mismanagement.
The situation, Dr. Brew said, made it impossible for Ghana to have a data on rare diseases, however, she said two per cent of the population worldwide might have a condition that was considered rare in a lifetime.
She said in Ghana, rare diseases mostly diagnosed were sickle cell and down syndrome and implored government to intervene, including cases of inborn errors of metabolism and Glucose-6-phosphate dehydrogenase.
Dr. Brew also appealed to government to support persons suspected of or having rare diseases by initiating the newborn screening programme as babies died often to improper and late diagnosis and poor management.
“Sometimes the caretakers of people with these conditions have to stay home, visit hospitals and therapists with the patients, travel the length and breadth of the town to get a school for the child, and get assisting technology like hearing and vision aids and wheel chairs. The burden becomes a lot, so very few of them can reach their potentials,” she noted, calling for support from all.
Source: Ghana News Agency