Tuesday, May 28, 2013

anything else? | journal #2


 They say you're only given as much as you can handle.

 Who determines that one is the question of the day.

 Today I received a call from the doctor letting me know that they received my genetic screening results. As soon as I heard her voice I knew something wasn't right. Of course the next thing she said reaffirmed what I already knew.... something wasn't right! She began the conversation with "I just want to start off by telling you that just because you have an abnormality doesn't mean that there is something wrong with you, it just means you're a carrier". My body stiffened.

 I am a carrier of Spinal Muscular Atrophy, a disease that is caused by abnormally functioning motor neurons that control voluntary movement such as walking, talking and swallowing. Of course when you hear something like this from the doctor for the first time you think, OH MY GOSH something is wrong with me! But of course that isn't a factor here. I'm just a carrier, so the next step is Eric going in for the same genetic screening because you both technically need to be carriers of SMA for it to be passed down to the baby and that still isn't a 100% guaranteed. If both parents are carriers of Spinal Muscular Atrophy there is a 25% chance in each pregnancy of having a child with SMA, a 50% chance of having a child who is an unaffected carrier of the condition, and a 25% chance of having a child who is not a carrier and is unaffected.

 A lot to randomly take in anddd I of course can't help but let those "bad" feelings creep in. Those... I wish I knew this before, another issue, something else to think about, something else to worry about.

 Who ever thought or knew so much went into having a baby?

 I've never heard anyone I know go through all of this or any of it for that matter. All I ever hear is "I'm pregnant, I'm having a girl/boy/twins, I'm having a Baby Shower" and then 10 months later I receive a birth announcement!

 It's crazy how so much can happen to one couple. One couple that would make amazing parents.

 I guess that's just how life goes sometimes.

 On to the next step... more testing.

 

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