JONATHAN, DESMOND & CHARITY are siblings from central region of Ghana. They are 17,10 and 6-year-olds respectively. They are suspected to be affected by a rare genetic condition known as MUCOPOLYSACCHARIDOSIS.
Due to the genetic defect, the body lacks the enzyme needed to break down a chain of sugar molecules in our body known as GLYCOSAMINOGLYCANS/MUCOPOLYSACCHARIDES. This defect results in enlarged head, tongue, heart-related problems, developmental delays among others. As at now, there is no cure, enzyme replacement therapy is what is available to help them. Doctors need to confirm their diagnosis to determine their eligibility for enzyme replacement therapy. Yet their family cannot afford the tests.
This campaign is to help fund the diagnosis. The diagnosis involves x rays, echocardiogram and blood/urine tests which will be used to clearly define the disease type and potentially improve access to possible treatments to slow the progression of the disease.
We are therefore appealing for contributions to help them get diagnosed for better treatment and management. Remember "One People. Healthy. Educated". #LeaveNoOneBehind #HealthforAll #EndtheDiagnosticOdyssey