Families facing rare diseases often endure a double struggle: keeping their loved ones alive while navigating a health system unequipped to diagnose or treat uncommon conditions.
For Ms Miria Mukiibi Kibirige, that struggle is a daily reality. She cares for two children living with epidermolysis bullosa (EB), a rare genetic skin disorder causing painful, life-threatening wounds.
When Ms Mukiibi gave birth to her second child, she expected the joy she had with her firstborn. Instead, she was confronted by a mysterious disease. ‘Her skin began peeling off wherever I touched her,’ she recalls.
‘At first, I thought it was temporary, but the wounds only worsened,’ she adds. For months, she sought help at multiple hospitals.
Doctors treated the baby for eczema and allergic reactions, but nothing worked. At 17 months, her child died from complications of the undiagnosed disease.
Two years later, Ms Mukiibi faced heartbreak again. Her third child, Analicia Ayebazibwe, was born with fragile skin that blistered at the gentlest touch. Medical staff struggled to provide care without causing more injuries. Six months later, her fourth child, Abba Mirembe Kibirige, was born with a similar condition.
‘Every day is a struggle. I can’t hug them the way a mother should because every touch brings pain. They are distanced from normal childhood experiences,’ she says.
The children’s condition makes feeding, bathing, and playing difficult. Even soft fabrics or sunlight can trigger blisters, and prolonged friction causes fingers and toes to fuse.
Emotional toll
Ms Mukiibi describes social stigma as a constant burden. ‘People whisper that we are cursed, bewitched, or have offended spirits. Even some doctors treat us as if it’s our fault,’ she says.
Her children cannot attend school because of the condition. Ms Mukiibi spends her days dressing wounds and preventing infections that could turn deadly. A breakthrough occurred when an international organisation assisted in sending samples to India for genetic testing, confirming EB in Abba and Analicia.
‘EB is inherited and can remain hidden for generations,’ explains Dr Umaru Byarugaba, a medical geneticist. ‘Parents can carry the defective gene without symptoms until two carriers have children,’ he adds.
Dr Byarugaba highlights Uganda’s lack of genetic testing facilities and official recognition for rare diseases, leaving families without diagnostic tools, policies, or data.
‘Many rare diseases mimic common illnesses like skin infections or diabetes. Doctors treat symptoms without seeing the underlying cause,’ he says.
Rare diseases in Uganda
The World Health Organisation defines a rare disease as one affecting fewer than 1 in 2,000 people. Globally, more than 7,000 rare diseases impact 300 million people, with 70 percent beginning in childhood.
Currently, there is no cure for EB. Management focuses on preventing infection and minimising skin damage, as even indoor clothing and bedding pose risks.
Ms Mukiibi explains daily care: ‘Bathing must be done by sponging. Every step requires extreme care to avoid new wounds.’
Two approved treatments exist in the US: Zevaskyn, a gene therapy costing $3.1 million per child (about Shs10.5 billion), and a topical cream priced at $600,000 (around Shs2.04 billion).
Option
Her most realistic option is a clinical trial at the Children’s Hospital of Philadelphia, costing $250,000 (about Shs850 million) for treatment, travel, and accommodation.
‘I don’t want to lose another child. Every day I pray for a miracle. Doctors have even told us to give up because the cost is too high,’ Mr Daniel Kibirige says.
Dr Byarugaba adds: ‘Even this trial is not a guaranteed cure, but it is their only chance at survival. Uganda urgently needs to recognise rare diseases, invest in diagnostics, and train health workers. Without action, more children will suffer in silence like Abba and Analicia.’ The story of the Kibirige family underscores the emotional, financial, and social burden rare diseases impose, highlighting the urgent need for awareness, policy, and healthcare investment in Uganda.
Background
Epidermolysis Bullosa (EB) is a rare genetic skin disorder that causes extremely fragile, blistering skin. It affects fewer than one in 2,000 people and currently has no cure.
Even minor friction, sunlight, or contact with clothing can trigger painful wounds. Treatment abroad ranges from $250,000 to $3.1 million (Shs850 million to 10.5 billion), making it largely inaccessible for most families.
Children living with EB face social stigma, cannot attend school, and require constant, intensive care.