Aa
Aa
A
A
A
Close
Avatar universal

Gene Mutation...

I was the first person diagnosed with IP, although it is believe my Great Grandma had it as well. I am a healthy, 24 year old woman. Although my dental history is beyond that of anyone's I know, and I do have marble scars with no pigmentation on my limbs, there is nothing to date that allows anyone to guess I have a genetic disease. At some point in the near future, I would like to have children. I fear that my children's case of IP would not be as mild as mine. Now that the gene mutation has been found, how easy is it to have artificial insemination using eggs without the NEMO mutation? How costly would this whole endeavor be?
4 Responses
Sort by: Helpful Oldest Newest
Avatar universal
I meant to say the first person in my family... not the first person with IP! :) Big difference.
Helpful - 0
Avatar universal
Hi there, there are 3 options a: try naturally and get the fetus tested at around 12 wks they can then tell you if it is ip affected but if it is you would have to make that heart breaking decision b: have sex detection ivf where they only implaint boy embryos C: genetic testing ivf this i think is the hardest and most expensive the excact expense depends on where you live and what clinic you use and whether you have private health but the bottom line is miracle of life is not cheap but worth it!!!!!!!!!!!!! GOOD LUCK!!!!!!
Helpful - 0
Avatar universal
I am in the same situation as you and beginning to learn about the family planning process.  You need to talk to a genetic counselor.  Your regular doctor should be able to give you the referral and that will be the best way for you to get information.  You will probably also have to have blood drawn to determine if the IP gene can be identified.  In 80% of people with IP, the gene can be identified and you have the options listed above.  But in the other 20% artificial insemination with sex selection (males) would be the best option (at least for eliminating the transfer of IP).  I am working with the insurance company now to see if they will cover the genetic test for me.  Then we will know how to proceed.  Good luck!
Helpful - 0
Avatar universal
The previous comments are helpful, but they make one error.  The IP research consortium that identified the gene in 2000 also discovered that it is possible for males to have IP, so it is NOT suggested that male embryos be implanted without testing to determine if the fertilized eggs have the mutated gene.

You should first determine exactly which mutation you have, and then IVF would be a good option, otherwise the physicians don't know what to test for in the fertilized eggs.  

The cost varies in the different labs.  Genetic Counseling with someone familiar with IP, and familiar with the options you have would be advisable.  

Susanne Emmerich
Executive Director, Founder
IP Foundation
Helpful - 0
Have an Answer?

You are reading content posted in the Incontinentia Pigmenti Community

Didn't find the answer you were looking for?
Ask a question
Popular Resources
Learn to identify and prevent bites from summer’s most common pests.
Doctors argue for legislation to curb this dangerous teen trend in the latest Missouri Medicine report.
10 ways to keep your skin healthy all winter long
How to get rid of lumpy fat on your arms, hips, thighs and bottom
Diet “do’s” and “don’ts” for healthy, radiant skin.
Images of rashes caused by common skin conditions