For doctors in resource-limited settings, diagnosing and accessing treatment for a rare disease such as Gaucher disease can be challenging. Dr. Uzima Chirwa, a pediatric hematologist in Zambia, experienced this firsthand when a young patient named Destiny came into his clinic in 2023 with mysterious symptoms.
Through the NGF Global Diagnostic Treatment Initiative, a program to help diagnose and support people with Gaucher disease worldwide, he confirmed the first case of Gaucher disease in Zambia. This diagnosis opened the door to life-changing treatment for patients across the country.
Recognizing Gaucher Symptoms
Destiny was just 12 years old when she first presented with an enlarged spleen and liver, bone pain, extreme fatigue, and severe anemia requiring frequent blood transfusions. “Destiny spent most of her time at home. When she wasn’t at home, she was in the hospital, so she couldn’t even go to school because of her condition,” Dr. Chirwa recalls.
At first, he suspected Destiny might have a blood condition like leukemia or lymphoma. However, once blood and bone marrow tests came back negative, Dr. Chirwa started considering Gaucher. A bone marrow aspirate revealed unusual cells characteristic of storage disorders like Gaucher, but he couldn’t confirm which one. Physicians diagnose Gaucher disease using an enzyme test called a beta-glucosidase leukocyte (BGL) test. However, many countries—including Zambia—lack the laboratory capacity to perform this specialized testing.
“We couldn’t make a definitive diagnosis because of limited testing resources,” he says. This uncertainty meant nearly a year passed from Destiny’s initial visit to her eventual diagnosis.
By coincidence, one of Dr. Chirwa’s colleagues met Dr. Robin Ely, Clinical Director of the National Gaucher Foundation, at an international conference. “Through that encounter, I got to meet Dr. Ely virtually, and I told her about my patient,” Dr. Chirwa says. “She offered to help us get genetic testing for our patients through the NGF Global Diagnostic Treatment Initiative, and that’s how we eventually confirmed a diagnosis of Gaucher disease in 2024.”
Testing for Gaucher Disease
Dr. Chirwa has since diagnosed four other patients with Gaucher. “When we suspect a patient may have the disease, I contact Dr. Ely,” he says. They discuss the case, and if they conclude the patient likely has Gaucher, Dr. Chirwa sends the patient’s blood sample to NGF for molecular diagnosis.
Through the Global Diagnostic Treatment Initiative, NGF covers BGL testing costs and coordinates testing at laboratories capable of performing a molecular diagnosis.
Early diagnosis is critical to ensure timely treatment. Without it, patients with Gaucher disease may develop bone crises, lung issues, and neurological problems.
Navigating the Application for Gaucher Treatment
Once the diagnosis is made, Dr. Chirwa applies to pharmaceutical companies for enzyme replacement therapy (ERT), which patients receive free of charge.
ERT works by supplementing the body’s low levels of the GCase enzyme with a modified version of the human enzyme. This allows the body to break down glucocerebroside, a fatty chemical that otherwise builds up in organs and bone marrow and causes inflammation.
As part of the application process, Dr. Chirwa submits the patient’s clinical details, including lab results, imaging, and the molecular diagnosis. The entire process takes about six months, from application to receiving medicine in-country.
“NGF has been fantastic with connecting us to companies that can help supply ERT for our patients,” Dr. Chirwa says.
Receiving the molecular diagnosis is the most challenging—yet essential—part of securing treatment. “Without that diagnosis, it becomes difficult to convince pharmaceutical companies to provide life-changing therapy for patients,” Dr. Chirwa explains.
Starting Gaucher Treatment
Treatment transformed Destiny’s life. Within three months, she no longer needed blood transfusions. By six months, she was back in school, free of bone pain and chronic fatigue. “Her liver is reducing in size, and she’s meeting her growth milestones,” Dr. Chirwa says.
Patients with Gaucher come to Dr. Chirwa’s facility every two weeks for their ERT infusions. Dr. Chirwa monitors their progress through regular blood work and imaging, while consulting with NGF to ensure they’re responding well to treatment. But for one patient who lives 250 miles away, Dr. Chirwa is bringing the treatment closer to home. He’s training doctors and nurses at a local facility to administer the therapy, eliminating the need for the patient to travel long distances for care.
Looking Ahead
Since Destiny’s diagnosis in 2024, Dr. Chirwa has diagnosed more patients with Gaucher disease and conducted webinars to educate healthcare providers across Zambia. His team now routinely considers Gaucher when evaluating patients with unexplained blood count abnormalities and enlarged organs. He’s even planning to establish the country’s first rare disease registry. Dr. Chirwa urges other physicians in resource-limited settings to partner with NGF when they suspect Gaucher disease.
“This partnership with NGF has helped us build human capacity to make diagnoses we wouldn’t have made before,” Dr. Chirwa says. “Prior to this, we would have said Gaucher disease is too rare to exist in our country. Now, we’re not only diagnosing it—we’re treating it and helping our patients live a good quality of life.”
How the National Gaucher Foundation Can Help
If you or a loved one lives with Gaucher disease, the National Gaucher Foundation is here for your family. We offer resources to optimize your health with Gaucher disease and connect you with the support you need.
