By Leonard Kamugisha Akida,
KAMPALA
When Rhona Carolyn Kimpaye was 11 years old, her mother joked that she was “bouncing like boys.” At the time, neither of them knew that the “awkward” movements were the first signs of a rare genetic condition that would eventually change the course of her life.
“At first, I could not even lift a five-litre jerrycan,” Rhona recalls. “My body started weakening, and with time, I couldn’t even raise my hands.”
The weakness crept in slowly but relentlessly. By the time she was in her early twenties, Rhona needed support just to walk. At 23, she relied on crutches, and later, a wheelchair became her only option. Today, the 24-year-old mother navigates life with Duchenne muscular dystrophy (DMD), a condition she only fully understood after watching her son show the same symptoms.
Her voice grows heavy when she remembers: “When my boy turned three, he started falling easily, just like I used to. That’s when I realized it wasn’t just me. It was something bigger.”
Duchenne muscular dystrophy is among the most severe inherited muscle-wasting disorders, caused by mutations in the dystrophin gene. Globally, 300,000 people live with DMD, with about 15,000-20,000 cases in the United States. It affects one in every 3,500–5,000 male births. In Uganda, experts estimate more than 300 children are born with the condition annually.
“It’s progressive,” explains Paul Collins Rubaihayo, Executive Director of Sapphire Africa Foundation, which supports families affected by Duchenne. “You don’t wake up one morning and find you cannot walk. It happens slowly, first, a child struggles to climb stairs, then they begin falling. Over time, the muscles weaken to the point where even breathing and heart function are affected.”
While boys are the most affected, girls like Rhona are rare but not exempt.
For Rhona, diagnosis did not come easy. She was shuffled between hospitals, from Mulago to Mengo to Nsambya, without clear answers. It was only after genetic tests that she finally learned the name of the condition.
“I became curious, especially after my son started showing the same signs. That’s when we confirmed it was Duchenn,” she says.
“At Mulago, We did a biopsy on the graphs and went to Nsambya to confirm which type of muscular dystrophy we had because muscular dystrophy has many many types and they affect differently. That’s when we confirmed it was Duchenne. When we confirmed that, I started looking for a way at least to navigate through with life.”
But the confirmation brought little relief. Duchenne remains incurable. Treatment is palliative, focusing on steroids, physiotherapy, and assistive devices to slow down complications. Many families, however, cannot afford the cost of daily therapy, which averages Shs 120,000 each day.
“We try to teach families how to manage at home; nutrition, posture, simple therapy,” Rubaihayo says. “But access to wheelchairs, walkers, and standing frames remains the biggest need.”
Despite the grim prognosis, Rhona refuses to let the disease define her. She gave birth, she advocates, and she dreams. Her son, though frail, still attends Primary Six.
“I thank Uncle Paul and Sapphire,” she says, touching the wheelchair that now carries her. “Without them, I wouldn’t even move around. This disease is cruel, but I don’t want to hide. I want people to know it exists.”
Rubaihayo agrees that awareness is the missing piece. “Many parents think it’s witchcraft or a curse when a child delays in walking. They try traditional remedies before seeking medical help. By the time they reach us, it’s often too late to slow the progression.”
Nurse Furaha Betty Elizabeth, who works with Duchenne families, acknowledged that there’s no currently cure for DMD, noting that treatment focuses on managing symptoms through physiotherapy, emotional support.
“For now, there is no cure for Duchenne. But what we do is we treat the symptoms. But of course, the scientists are not settled. They are doing research like as usual. They have been doing research on other treatments for different diseases. So soon, we shall get something better for them. But for now, we just treat symptoms.”
Globally, most patients with Duchenne die in their twenties from respiratory failure or heart complications. Uganda has no national program to address the disease, leaving families like Rhona’s to fend for themselves.
“We need government intervention and policy attention for Duchene,” Rubaihayo urges. “Duchenne patients are invisible in our health priorities. Children are dropping out of school because classrooms aren’t accessible. Families are sinking into poverty. This is not just a medical issue, it’s a dignity issue.”
Experts have advised young couples to undergo medical check-ups before marriage to better understand their health status and potential risk factors. They argued that early detection can help preserve muscle function and greatly improve quality of life.
For Rhona, advocacy is personal. She has turned her pain into purpose, speaking at community gatherings and health forums to demand recognition for Duchenne patients.
“I know there’s no cure,” she says quietly. “But at least let us be seen. Let my son and others like him grow with dignity. That is all we ask,” she said this while recounting stigma and discrimination faced by people living with duchene.
