Preimplantation Genetic Diagnosis-Baby's Beginning

My experiences of concieving our first child using preimplantation genetic diagnosis

Wednesday, March 01, 2006

The disease

I've found all the info I want about the disease, and now have a pretty clear idea of the risks and problems that Incontinentia Pigmenti can cause. NEMO, the gene containing the mutation that causes Incontinentia Pigmenti, is located on the X-chromosome, which if you remember your biology is the one that makes females females. Girls have two X's (XX), and boys have one X & one Y (XY). If you have one bad X that carries Incontinentia Pigmenti, and one good X, then the good X can partially compensate for the bad X, fill in the gaps, and you might be able to be pretty normal (like me), or if it doesn't compensate, then you will have that big list of problems. However, if you are a boy and you only have one X chromosome, and that X is an Incontinentia Pigmenti - carrying bad X, then there's no other X there to compensate for you, and you will die.

Incontinentia Pigmenti is a lethal disease in males, because they have no other X to cover for them. This of course is scary news to me, if I want to have a boy, but I'll continue my tale... So boys with the disease die. Either as a miscarriage in the womb, or shortly after birth. This is partially good news however, because that means that there are no fathers with the disease! Including my own father! So I cannot have more that one bad X. I have one good X and one bad X (if I test positive). Since a mother only passes on one X her child (he/she gets the other sex chromosome from the father), then I have a 50/50 chance of not passing on the disease and having a healthy baby. That's pretty good news!

On the not so bright side, I could pass on the disease to my daughter, and she might not be as lucky as me. Indeed, as I look through the lists of effects of the disease, they don't look pretty. However, things have improved in the last 20 years since my birth and the list isn't as long as it once was. Most of the possible effects are slight physical malformations like not as many teeth as normal, not as much hair, possible eye problems,but nothing too serious. The one big thing on that list is nervous system disfunction that causes mental retardation. Mental retardation - that's the scariest thing in the world for me. Any mother would be scared at that prospect.

I really hope I test negative, but if I test positive, I REALLY REALLY hope that there is a way to prevent this disease.


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