As Uganda joined the world to mark Duchenne Muscular Dystrophy (DMD) Awareness Day, a local non-profit has urged government to officially recognize the rare disease in national health and disability policies.
The call was made by the Sapphire Africa Foundation, which supports families affected by the progressive genetic condition. According to the foundation, an estimated 300 children are born with DMD every year in Uganda, yet the condition remains invisible in public health strategies, leaving affected families to struggle in silence.
“Without formal recognition, children with Duchenne are denied the attention and resources they urgently need,” said Paul Collins Rubaihayo, Executive Director of the foundation. “Inclusion in national health policy would unlock investment in screening, treatment, and family support systems.”
DMD, which almost exclusively affects boys, is caused by a genetic mutation that weakens muscles over time. Symptoms usually appear between the ages of two and six, beginning with frequent falls and delayed walking. As the disease advances, children gradually lose mobility, and by their teenage years many require wheelchairs. Later, the condition often leads to life-threatening heart and breathing complications.
Globally, DMD affects about one in every 3,500 to 5,000 male births, but in Uganda, limited awareness means most cases are misdiagnosed or misunderstood. Families in rural areas often attribute the condition to laziness or even witchcraft, adding layers of stigma to an already heavy burden.
The foundation is calling on government to recognize DMD within national health and disability frameworks, fund early screening programs, including training health workers to detect warning signs, set up regional care centres to provide physiotherapy, respiratory care, and counselling, Support genetic testing and counselling to help families manage the risk of passing on the disorder.
Advocates argue that these steps would not only improve the quality of life for affected children but also ease the financial and emotional strain on their families.
While there is currently no cure for DMD, experts say early diagnosis combined with physiotherapy, mobility aids, and respiratory support can extend survival and improve quality of life. Recognition at policy level, they add, would also help reduce stigma and encourage more research collaborations.
For the Sapphire Africa Foundation, the goal is clear, to ensure that children living with Duchenne in Uganda are no longer invisible.