genetic screening

iVillage Member
Registered: 05-22-2007
genetic screening
7
Mon, 07-30-2012 - 7:13pm

Today was the 1st step in a long process of genetic testing.  My daughter went and did her blood screen today and when those results are back my hubby and I will go.  After that we meet with our specialist and get setup for an amnio.  My hubby and I are carriers of a very rare genetis condition called lamellar ichthyosis.  We never knew we were until our DD was and no1 knew what was wrong with her. drs. came from differ hospitals until someone said aw ha this is what it is.  It's been a struggle and I must say dealing with the remarks of other parents has been the hardest. :smileysad:  Other mothers pull ther kids away and say dont touch her you might get it, eww whats wrong with her.  I'll admit I even got into an all out fist fight with my dads GF for making fun of DD.  ANYWAY, back to the subject.  there is only 1 lab in the US that tests for this so it takes a lil while. we are only testing because we live in a new city and we want the drs. to be prepared for what may come, plus theres alot of things that have to be made different at home, that you wouldn't with "normal" baby.   I am so anxious to get this testing done, just so I can be mentally prepared.

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iVillage Member
Registered: 05-31-2012
Tue, 07-31-2012 - 2:58am
I hope get your results quickly! Have you considered getting a cvs done instead? They can do that much earlier, giving you your answers much sooner, too. Good luck with everything!
iVillage Member
Registered: 05-22-2007
Tue, 07-31-2012 - 2:11pm
I was not given that as an option. I assume there is a reason for that.
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iVillage Member
Registered: 06-21-2005
Wed, 08-01-2012 - 9:56am

Good luck!  It sounds like the process must be nerve-racking!  Not to mention time consuming.  P&PT for you!

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iVillage Member
Registered: 05-20-2010
Wed, 08-01-2012 - 1:35pm
Best of luck & hang in there! P&PT!

As for the CVS (I just had one so I'm pretty well versed on the subject), because they are done so early, they can't detect every problem, for example neural tube defect like spina bifida, so that's most likely the case in your situation. If they suspect anything out of the usual they normally like to wait & do an amnio.

Again, prayers being sent your way!
Lilypie Maternity tickers
iVillage Member
Registered: 05-22-2007
Wed, 08-15-2012 - 3:30pm
thanks enerybody
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iVillage Member
Registered: 01-18-2005
Thu, 08-16-2012 - 2:51pm
Good luck with the testing! So only your daughter has it? Your other kids don't? Hopefully everything will look well with the testing. Hang in there!

I have no idea what that condition is? What are the symptoms? How is your daughter handling it?
iVillage Member
Registered: 05-22-2007
Fri, 08-17-2012 - 7:59pm
my boys have a differ father. My DD handles just fine, she really hasnt noticed shes different yet. I could explain it to you, but it would take forever, it would be alot eaiser to google it. lamellar ichthyosis. its a skin disease that has many affects on the body
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