MATERNAL & CHILD COMMUNITY
Gaucher Disease

Gaucher Disease

I tested pos. for one copy of GD.  My husband has not been tested yet; however, i am very nervous.  I also just miscarried with a blighted ovum.  Is that the reason?  Does this mean that our child (if my husband is also pos.) is going to be effected.  Also, back to the blighted ovum...I had a D/C exactly 2 weeks ago (Sept. 9th.) when can we start trying again. I hear different stories everyday.  What is your opinion.... Thanks :)
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Avatar_n_tn
Hi, I really wish I could help you but I have no idea what Gaushers disease is. Maybe you could tell us something about it.
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Avatar_n_tn
I don't know anything about it either--but here is a link.  They may be able to answer your questions.

http://www.gaucherdisease.org/
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Avatar_n_tn
I have it and it really *****... if you and your husband both test positive for it but neither of you have it you have a 1 in 4 chance that your child will have it and a 2 in 4 chance that they will be a carrier (which is what you and your husband are).  A carrier is not affected but does have to worry about that 25% chance that there will be a Gauchers child born.  the last possibility would be a 1 in 4 chance that you will have a child that doesn't carry the recessive gene.  either way you look at it is impossible to know unless special genetic testing is carried out on the fetus before birth.  Please get the proper tests, because living with this disease should not be wished onto anyone.  There is no cure and the treatments are painful and long.  
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