Josephine Bila was born with transfusion dependent beta thalassemia, a rare blood disorder. Recently, Josephine uploaded a video to Youtube in which she talks about her life as a patient, including what it means to be transfusion-dependent.
About Beta Thalassemia
Beta thalassemia is a group of genetic disorders which affect the blood. These disorders are characterized by the abnomal production of hemoglobin, the substance in red blood cells which allows them to transport oxygen. The severity of the disorder can vary widely from person to person and depends on the present mutation. These mutations affect the HBB gene which is found on chromosome 11. These mutations can be easily passed down within families. Symptoms of beta thalassemia major, the most severe form, include spleen problems, skeletal abnormalities, poor growth, anemia, liver problems, diabetes, osteoporosis, and heart failure. Treatment for beta thalassemia may include blood transfusions, surgery, and bone marrow transplant, which can be curative for some children. There is a need for improved treatments for patients with severe cases. To learn more about beta thalassemia, click here.
Being transfusion-dependent means that Josephine’s case of beta thalassemia is severe enough that, without periodic transfusions, she would experience severe, life-threatening symptoms. Because of her need for transfusions, Josephine also must take a chelation therapy drug in order to avoid iron overload. She also provides a brief demonstration of this chelation therapy in the video.
Josephine also talks about the emotional challenges of living with a chronic illness and how it impacts her daily life; blood transfusions in particular came take three or four hours at a time, which really adds up considering that she works full time.
It can be a really daunting and personal for rare disease patients such as Josephine to open up and talk about their daily lives and experiences as patients with rare, chronic illnesses. Often these illness have inflicted great pain, both mentally and physically.
At Patient Worthy, we do our best to center the voices of rare patients and provide a platform where they can feel comfortable discussing their experiences and advocating for others. Click the video below to hear from Josephine in her own words.