Irene Nalukwago’s daughter began receiving blood transfusions almost every week after she became sick and anaemic at six months old. Now 12, she has been left paralysed on the left side of her body after repeated attacks of sickle cell disease. Uganda has scaled up mandatory newborn screening, but gene therapy that could potentially end years of suffering remains out of reach for most people who need it.
“She became paralysed on the left side of her body; I just had to carry her,” Nalukwago said.
Who Pays for Late Diagnosis
Nearly 20,000 newborns in Uganda are affected by sickle cell disease every year. The inherited blood disorder causes severe pain, and many children in Africa who have it die before their fifth birthday because diagnosis comes late. Nalukwago’s daughter was born healthy at a hospital in Kayunga, east of Kampala. Her illness became apparent months later, when she began falling sick and becoming anaemic.
Nalukwago said her daughter started receiving transfusions almost every week and remained in considerable pain. Doctors suspected an underlying problem, and tests confirmed sickle cell disease. Repeated attacks have taken a heavy toll on the child, who is now 12.
Thousands of children have gone years without early diagnosis and proper treatment, according to the article. In response, Uganda has expanded mandatory newborn screening across the country. The account gives no figures for how many children have been screened or how many still lack access to diagnosis.
Treatment Before the Crisis
At Kayunga Referral Hospital, medical officer Dr Isaac Tumusiime said doctors start children on hydroxyurea as early as nine months. The oral prescription medication reduces painful attacks and the need for blood transfusions.
“All our children are started on hydroxyurea as early as nine months,” Tumusiime said. He said there’s a continuous supply, supporting adherence to treatment, and that most children have survived through this setup.
Medical professionals say early diagnosis helps manage sickle cell disease before it becomes severe. At the Kayunga clinic, patients are advised to attend routine check-ups to help them stay healthy and avoid life-threatening complications such as strokes. Doctors say regular monitoring can identify problems early, reduce pressure on stretched health workers and give patients a better chance of longer, healthier lives.
The article describes expanded screening and continuing hydroxyurea supplies, but it doesn’t give their cost or identify who finances them. Nor does it report profits or payments to drug suppliers. The limits show up in the care pathway: children need early diagnosis, ongoing medication and routine monitoring to manage the disease.
A Potential Cure Beyond Reach
Gene therapy has reached patients in some countries and could potentially end years of suffering for many people. But it remains unaffordable for most who need it, the article says. No price, country list or patient access figure is provided.
Tumusiime said parents are encouraged to manage their children with hydroxyurea “with a hope that maybe one day gene therapy could be affordable.” For now, that treatment remains beyond the reach of most patients. The article doesn’t describe a government plan to make gene therapy affordable, or report organized patient or worker campaigns for access.
Available treatment can reduce painful attacks and transfusions. Screening and monitoring can help prevent severe complications. The account doesn’t say these measures cure sickle cell disease. For families like Nalukwago’s, the difference is stark: her daughter’s diagnosis came after months of illness and frequent transfusions, while a potential cure remains inaccessible to most who need it.