According to a story from Direct Relief, when Yusra was just a year old, she began to have mysterious bouts of fever. Her family had no explanation. By age three, the child’s stomach was bulging unusually, triggering even greater cause for concern. Yusra’s family, of the Pwani Region in Tanzania, sought professional help. Unfortunately, answers were not to come quickly. Yusra was initially misdiagnosed with malaria, then sickle cell anemia. Then, Dr. Kandi Muze of the Muhimbili National Hospital examined the girl and noticed signs of Gaucher disease, a rare lysosomal storage disease.
About Gaucher Disease
Gaucher disease is a genetic disorder which is most characterized by the abnormal buildup of the substance glucocerebroside in different areas of the body. This buildup can lead to a variety of symptoms. The disease is caused by a genetic abnormality affecting the GBA gene, which is responsible for the normal function of the enzyme that normally breaks down glucocerebroside. Symptoms of Gaucher disease include enlarged spleen and liver, discolored skin, anemia, increased risk of infection and bleeding, osteoporosis, reduce sense of smell, impaired cognition, severe joint and bone pain, muscle twitches, dementia or intellectual disability, apnea, and convulsions. Neurological symptoms vary depending on the type of disease present. Gaucher disease patients are also more likely to have Parkinson’s disease. Therapies for Gaucher include enzyme replacement therapy, Miglustat, and Eliglustat. To learn more about Gaucher disease, click here.
Yusra was five years old by the time she got the correct diagnosis; Dr. Muze had seen a number of cases of Gaucher disease in the past. However, Yusra needed a genetic test in order to definitively confirm Dr. Muze’s suspicions. Unfortunately, such as diagnostic test was prohibitively expensive in Tanzania.
Thankfully, the drug company Takeda Pharmaceuticals, which manufacture an enzyme replacement therapy to treat Gaucher disease, offers a Charitable Access Program that can cover the cost of a test for a patient living in an underserved region or community. After being accepted into the program, Yusra was also able to receive treatment for the first time. With treatment, the girl, now six years old, will be able to grow more normally and her stomach will return to its normal size. Compassionate programs like this are critical for expanding treatment access to the patients that need it most.