Gaucher Disease Response to Classmate

RESPONSE TO MARYAM

Response to Maryam

Maryam is able to clearly outline the pathopsychology of Gaucher disease. More specifically, she indicates that it happens to be the ultimate consequence of buildup of lipids. On this front, it would also be prudent to note that some of the symptoms associated with this particular disease largely vary depending on the specific type of the disease that a person is suffering from. Maryam correctly indicates that Type 1 happens to be the most common kind of the said disease. This assertion is collaborated by Bennett who also indicates that although there could be huge variations in symptoms, type 1 Gaucher’s disease has been closely associated with; “spleen and liver enlargement, low blood counts, bleeding problems, and bone problems.”[footnoteRef:1] [1: Bennett LL. Gaucher’s Disease: From Diagnosis to Treatment. Nova Medicine; 2020. ]

My colleague also indicates some of the treatment approaches for GD. These have been identified as enzyme replacement therapy and substrate reduction. Both have been clearly defined. However, it should have also been indicated that there are other interventions that could be considered in those scenarios whereby treatments that are less invasive, such as the ones that have been highlighted above, are not viable. One such approach is hematopoietic stem cell transplantation (HSCT). It would be prudent to note that HSCT happens to be a rather risky procedure. However, in the words of the authors, the said intervention has “possible long?term benefits in the regression of skeletal and neurological changes in people with Gaucher disease.”[footnoteRef:2] We must not forget that whichever treatment is selected, God has the ability to heal and restore our bodies. We only have to be righteous. Indeed, as stated in Psalms 146: 8: the Lord gives sight to the blind, the Lord lifts up those who are bowed down, the Lord loves the righteous. [2: Somaraju UR, Tadepali, K. Hematopoietic stem cell transplantation for Gaucher disease. Cochrane Database Syst. Rev. 2017; 2017(10): 413-419. doi: 10.1002/14651858.CD006974.pub4]