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#16820 - 04/03/06 02:45 PM update-? for you guys
babygirlbeach Offline

Registered: 05/12/05
Posts: 61
Loc: Georgia, United States
Well we just got the info. back on Lauren's genetic testing from GeneDX. They found a mutation on her KRT 1 gene with palms/soles affected. Seems that there might have only been one other case that came through them that had the same gene affected and palms/soles too. Anyway, after fighting with the insurance company they have finally paid up. YEAH!! We are currently 9 months pregnant and waiting on the arrival of our new daughter Lilly Grace in the next 21/2 weeks. I do have a question for you guys. My husband nor I, nor any family member had any type of signs of this skin disorder. What are the odds that it would happen again? Although we would never change anything about Lauren because she is PERFECT I do pray this new baby does not have the same. All is great here and Lauren who is about to be 4 and a big sister is loving life. She is so excited about this new baby and having someone to play with. It's so wonderful! Anyway, we are using Tazorac (very seldom though) and Keralyt(works great) on her skin. She seems to be having no problems or social issues with this so I am more than thrilled. She is a very confident little girl which makes me happy. Thanks for listening [img][/img]

#16821 - 04/04/06 01:36 AM Re: update-? for you guys
Hearsay Offline


Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
You're dealing with a dominant condition, so since neither you nor your spouse have the disorder, it is most likely a spontaneous mutation unique to Lauren. Her children, however, have a 50/50 chance of getting palmoplantar EHK.

There's a small chance that the mutation is in your eggs or your husband's sperm. Since all cells originate from the initial zygote, there's a chance that somewhere along the way one of your reproductive cells developed the mutation and it has carried through to some of the sex cells. But even if that were the case, you chances of having another affected child are still somewhere in the 1 in 100 range.

Congratulations on Lilly's impening birth! I hope you get some sleep before she arrives. Will you be attending the conference this year?
Ichthyosis-en-Confetti Type 2
Husband, Nathan - 10, Elliot - 7, Oliver - 4, all affected.
I also have an unaffected daughter, age 8.

email: jennifer at confettiskin dot com
facebook - find me on "ichthyosis mommy spot" or "friends of ichthyosis"


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