Preimplantation Genetic Diagnosis-Baby's Beginning

My experiences of concieving our first child using preimplantation genetic diagnosis

Wednesday, February 01, 2006

I can get an answer

To my relief, I found an answer to my first query - I CAN find out if I really have this disease! I'm very lucky too, because it was only six years ago, in 2000, that scientists discovered and completely sequenced the gene, which they call NEMO (located on the X-chromosome), that causes Incontinentia Pigmenti. So, I can send in some blood for a DNA test and they can tell me if I need to worry about this or not. Unfortunately, only 80% of people who have Incontinentia Pigmenti have this specific gene mutation, so they warn that even if you test negative it doesn't necessary mean that you're free of it.

The thought of a less than 99.999999% accuracy rate in any of your own medical diagnosis is always upsetting... however at least I could have some peace of mind now. If I tested negative I might really not have it, but then again, I might be in the 20% without that specific gene mutation. In either case, if I'm not testing positive for anything, then there is no way to avoid the unknown, right? They don't have any way to test that other 20%, and so there is still nothing more I could do but go about concieving our child naturally. And if I tested positive...well, I need to do some more research to see what I can do about it in that case.

But before I get tested, there're still some things I want to know. I need to answer my remaining questions: What are my chances of having a normal child if I do have it, and what kinds of problems can this disease cause? And,
  • If I test positive, is there anything I can do to increase my chances of having a healthy baby and not passing it on?

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