Living Well with Gaucher: Alka Singh’s Testimony of Early Diagnosis and Treatment

In this video, Alka Singh, 38, shares her experience living with Gaucher disease, a rare genetic disorder that causes liver or spleen enlargement, bone abnormalities, and blood disorders. Diagnosed in 2009 after undergoing bone marrow and other tests, Alka is the only one in her family affected by the condition. Prior to treatment, she frequently fell ill during her childhood, but after starting therapy, her health improved significantly, and she has not faced any of the previous issues. Alka is often asked at seminars who the patient is, as her appearance makes it difficult for others to tell she has a rare disease. Thanks to early diagnosis and timely treatment, she now leads a normal, healthy life, and both her children are also healthy. Alka emphasizes that early diagnosis and proper treatment can significantly improve the quality of life.