Tuesday, October 21, 2014

Pre implantation genetic diagnosis

About half year ago, my husband's first chromosome karyotype says he had a reciprocal translocation. But, it failed to establish that he has more than one cell line. And what does this mean? Huhuhu, I cried. I checked the net with 46,xx balanced translocation the chance of conception is less than 20 percent.  I don't want abnormal kids.

I went to consult a geneticist. She then suggested that my husband and me to have karyotyping in the state hospital. This is to rule out mosaicism for both of us. She then asked why did I not have my karyotype tested together with my husband? My naive answer was: whether my chromosome is good or bad, it will not prevent me from trying to conceive. Whew! Luckily our karyotype results were normal.

I though our genetic issue is over. I don't have to be put into maximum dose ovarian stimulation. Thank god, I thought I dont need a very aggressive therapy.

I confess that I did not share my entire autoimmunity story to my doctors. On my last consultation, my immunologist said he needs to see a psychiatrist. He complained that I am driving him crazy. Why I am feeding him one small piece of info at a time? On my last consultation with my obgyne she also commented that I should have given to her my 'decade old letter' on day1. Bad me! I just do not want to be misdiagnosed because of my biased info.

Anyway, I tried to be very open in my new IVF inquiry yesterday. I partly regret me and my big mouth. I was required to go to Taichung, just to have some basic immunologic tests. I cannot send out my blood via courier. I need to personally go to Taichung. Grrrr... Then I tried my best to explain what is ankylosing spondylitis. It is a spondyloarthropaty caused by HLA-B27 gene. My main problem is TNF-alpha.

Oopss... What HLA-B27 gene? Do they heard it right? GENE? I need PGD pre implantation genetic diagnosis. Whatever... Now, PGD sounds like a brilliant idea to me. I should thank my big mouth!

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