Thursday, February 19, 2009

Other Tests

As I'm getting ready to gear up for my IUI, here are some other interesting little tidbits / bumps in the road:
  • I somehow am not immune to the chicken pox virus. I opted to forgo getting immunized since you have to postpone trying to conceive for at least three months after getting vaccinated. I hate tempting fate, but I managed to stay chicken-pox free for the past 36 years; hopefully I will be able to remain that way for several years to come - or at least until after I deliver my baby.
  • While my karyotype (chromsomal testing) came back normal, the lab did find that I am in the "grey area" for Fragile X. According to The National Fragile X Foundation website: "Fragile X is a family of genetic conditions, which can impact individuals and families in various ways. These genetic conditions are related in that they are all caused by gene changes in the same gene, called the FMR1 gene." My tests showed that I had between "38-46 CGG Repeats." According to the same website: "The grey zone: The most important point about an FMR1 gene with CGG repeat number in the 'grey zone' (between approximately 40 and 55 repeats), is that it cannot be the cause of clinical problems. The gene is perfectly functional. Cognitive impairment in an individual with an FMR1 gene of this size must stem from another source. The only risk associated with a gene of CGG repeat number in the grey zone is that it may be unstable from generation to generation and could eventually expand to a full mutation. Therefore, there is a slight risk of fragile X syndrome in distant descendants. The risk for instability of a gene with less than 50 repeats is quite small."
  • Our meeting with the genetic counselor confirmed what I learned about Fragile X and where we stand in passing this disorder to our children. However, I am planning on getting tested for other genetic disorders just to eliminate any other possible causes of concern for genetic disorders in the future. I will be tested for SMA, spinal muscular atrophy, and cystic fibrosis. If my test resuts show that I am a carrier of either of these disorders, DH will get tested, too.
  • My TSH level was a bit elevated during my follow-up CD3 bloodwork evaluation. This could indicate that I have hypothyrodism, but until my RE talks to me about this, I will proceed as though everything is A-OK.
  • Luckily, my HSG showed that my uterus, lining, and fallopian tubes all look good and are normal. That's one thing to be thankful for in this journey.

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