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[Genetics Counseling]
Author: Krista Donnelly (198.76.142.---)
Date: 11-12-02 10:32
Does anyone have experience with genetic counselors? What is it, exactly, that they do? Is there anything more than sitting down with you and discussing the odds of your children inheriting the disease? I'm just wondering what my husband and I would get out of seeing one.
Our story is that our six week old son died in June this year. He was diagnosed with HCM, though the doctors [who are not experts in HCM] didn't think it was the cause of death. There is still no official cause of death. I'll be seeing a specialist tomorrow to get screened. I understand about HCM being autosomnal (sp) dominant and that it varies greatly in presentation even within families. So . . . would a counselor tell me anything else? Or do anything?
Krista Donnelly
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[Re: Genetics Counseling]
Author: Lisa Salberg (208.47.172.---)
Date: 11-12-02 11:42
With regards to your situation Krista I would expect the genetic counselor would let you know that if you and your husband are clear of any signs of HCM that the chance of having a 2nd child with HCM is very very low... if you or your husband have HCM then there is a 50/50 chance the next child will also have HCM.
There is no testing commercially available but there is a program at Harvard looking for 500 cases to genotype..although I think they need a blood sample from an affected family member to do the testing...but we can always ask.
It can not hurt to hear what they have to say... they may have some other information that will help you make your plans.
All the best,
Lisa
Author: Krista Donnelly (198.76.142.---)
Date: 11-12-02 10:32
Does anyone have experience with genetic counselors? What is it, exactly, that they do? Is there anything more than sitting down with you and discussing the odds of your children inheriting the disease? I'm just wondering what my husband and I would get out of seeing one.
Our story is that our six week old son died in June this year. He was diagnosed with HCM, though the doctors [who are not experts in HCM] didn't think it was the cause of death. There is still no official cause of death. I'll be seeing a specialist tomorrow to get screened. I understand about HCM being autosomnal (sp) dominant and that it varies greatly in presentation even within families. So . . . would a counselor tell me anything else? Or do anything?
Krista Donnelly
~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
[Re: Genetics Counseling]
Author: Lisa Salberg (208.47.172.---)
Date: 11-12-02 11:42
With regards to your situation Krista I would expect the genetic counselor would let you know that if you and your husband are clear of any signs of HCM that the chance of having a 2nd child with HCM is very very low... if you or your husband have HCM then there is a 50/50 chance the next child will also have HCM.
There is no testing commercially available but there is a program at Harvard looking for 500 cases to genotype..although I think they need a blood sample from an affected family member to do the testing...but we can always ask.
It can not hurt to hear what they have to say... they may have some other information that will help you make your plans.
All the best,
Lisa