Preimplantation Genetic Diagnosis-Baby's Beginning

My experiences of concieving our first child using preimplantation genetic diagnosis

Sunday, January 01, 2006

Can I just concieve naturally, or do I really have a problem?


When I was born in 1981, I was diagnosed with a rare genetic disease - Incontinentia Pigmenti. I had black whirl marks on my skin. The doctors said I wouldn't have hair, I would be blind, I didn't have permenent teeth, I would be deaf, I would be mentally retarded, the list goes on and on. Pretty much anything that could go wrong would be wrong, they said.

Well, my permenent teeth suddenly appeared on my xrays shortly after birth, it became obvious that I could hear, my hair grew to be one of the thickest heads of hair on the planet, and I gained admission to the Gifted & Talented programs in my elementary school, getting top grades. Did I really have this Incontinentia Pigmenti?

Once I hit puberty, I got my period and everything just like the other girls, and my parents and I never thought anymore about this supposed disorder that I obviously didn't have. That is, until I got married and became ready to have children of my own.

Then again I asked the question, what if I do have it? What if my children aren't as lucky as I am? What if they do suffer all those horrible problems the doctors said I would get?

So, I did some research. I googled Incontinentia Pigmenti to see what I could find. The things I wanted to find out were:
  • Was there anyway to know for sure whether I really have this disease or not?
  • If I have it, what are the risks for having a baby with a disability or having a miscarriage?
  • What kind of problems can this disease cause? Is it the same as what the doctors told my parents 20 years ago, or have they made new discoveries about it?

1 Comments:

Anonymous dmlwombat said...

This is dmlwombat from the IP Friends and Family group. Reading your early blogs is like reading my own thoughts. I was diagnosed very young with what they thought was IP, but they weren't sure and I didn't have the horrible symptoms either. It's mostly impacted my skin (some hyper and hypopigmentation) and I think I'm missing 1 permanent tooth. I tested positive for the gene about a year and half ago. My concerns are now about having children and what if they don't have it so easy. Your blog is very helpful to me as you're further along in trying to have kids. Thank you!

Monday, November 05, 2007 6:37:00 a.m.  

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