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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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How To Treat Gaucher?

hi my two daughter had suffering from gaucher. she is no more. my both got test. my test result +2.0appox. & wife -.10 . my question who will afftered with this . i now one of them is carrier of this disease but our both children affected with these disease. why & what will we do after next baby plan. vishal from punjab
Tue, 9 Feb 2016
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Pediatrician 's  Response
Hi Vishal, Gaucher is usually inherited as autosomal recessive, which means both you and your partner has half the defect resulting in baby having the disease in 1:4 chance. Some forms can be sporaidic also. Tests are available to detect gaucher gene in fetus. Its better to go for one of those tests early and proceed further
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How To Treat Gaucher?

Hi Vishal, Gaucher is usually inherited as autosomal recessive, which means both you and your partner has half the defect resulting in baby having the disease in 1:4 chance. Some forms can be sporaidic also. Tests are available to detect gaucher gene in fetus. Its better to go for one of those tests early and proceed further