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What do I need to know

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Old 10-08-2006, 04:03 PM   #1
Join Date: Oct 2006
Location: BC Canada
Posts: 1
snickergal HB User
What do I need to know

I am a 38 year old Mother of 4 girls,The youngest is 4months old with Trisomy 21.We all love her dearly and accept her for who she is. I am beening told I need to travel 90 miles away to go for genetic councelling, because my Dr's can't tell me alot about the tests that have been done on Karissa. Just that trisomy 21 is confirmed and her heart and stomach are fine. I dont have a problem traveling to get answers but Im A little leary of going and hearing what I already have heard in my town. IDP seams to think I should know more about Karissa's Diagnosis. But I just don't know what I should be asking, and what I need to know right now. Maybe somebody out there can help me figure out these things so I can decide weather to make an appointment
Thank You

Last edited by snickergal; 10-08-2006 at 04:49 PM.

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Old 10-24-2006, 10:24 AM   #2
Join Date: Aug 2006
Location: NY state
Posts: 63
hannahph HB User
Re: What do I need to know

Basically a genetic counselor can tell you what kind of DS your little girl has(trisomy 21, translocation, or mosaic DS) I believe it is somewhere around 95% of cases that it is standard trisomy 21.A regular pediatrician should be able to give you this info by looking at her karotype(bloodwork)It is important to know what type your daughter has if you are planning on having more children, to determine if you or your partner are carriers.I am really not sure why else you would need to see a genetic counselor. I have heard that some counselors act as a sort of coordinator of all the medical stuff but honestly a regualr pediatrician should be able to do that. As long as she has been evaluated by a cardiologist then a lot of health issues can be dealt with on an as needed basis.I think at this point the most important thing is to get involved with an early intervention program to elp her with her development. Do you have a service coordinator or case worker? They should be able to help a lot with this area.

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