Friday, February 14, 2014

Bad Things Come In Threes...Or Sometimes GOOD Things

We have a date set up for Heath's surgery!!! YAY! 

On April 24th, Heath will be going in for a biopsy. This will help pull sperm for the IVF procedure.  I'm ANXIOUSLY awaiting this date.  Waiting is the hardest part in this whole process so far for me.  While I have been waiting, I have found out some troubling news.  I have a premutation of Fragile X Syndrome.  What the heck is that?????

Fragile X is a genetic developmental, learning and behavioral disorder.  It is the most widespread single-gene cause of Autism and inherited cause of intellectual disability.  BTW-Family, I don't know who I inherited the Fragile X from at this time, but we will be doing more testing in order to determine what side of the family it runs on in order to notify everyone.

What is funny, is a lot of things make more sense in my life now that I know that I have the premutation.  My social anxiety and depression can be attributed to this, and I feel a relief knowing that there is a reason I am the way I am.

There are some future risks for me such as Premature Ovarian Failure and late-onset tremors. Scary, but its the card I'm dealt, and the risks seem low.

As for reproduction, I could possibly pass on the premutation depending on which X chromosome I pass down to my children.  There is only a 2% risk of my children having a Full Mutation which is good.  

Heath and I may consider doing PGD.  Whoop Whoop!! I used a new term.  PGD is genetic testing on the embryos before implantation.  Don't know what to think of this since nothing we are doing seems natural anymore.  

On a good note, three of my fellow infertility ladies have found out they are pregnant this week!! Good things really can come in threes! So excited for these ladies as I have seen their heartbreak, tears and battles on their journey to motherhood. Happy Valentine's Day!