One year ago Auggie and I found out that our little gummy was in fact a little girl gummy. This was wonderful, amazing news. I squealed a little. But all of that was insignificant when compared to the major good news we received that day.
Auggie and I had found out in May 2009 that I was a carrier of Cystic Fibrosis - a horrible life ending disease that is the most common genetic disease affecting babies. We didn't worry too too much as it requires both parents to be carriers. So off Auggie went for testing. We knew it was bad when the Doctor called me. Despite the 1/860 chance of it happening, Auggie was also a carrier. This meant that our little gummy had a 1/4 chance of having Cystic Fibrosis. Worse still, we carried two different "class 1" mutations, meaning that gummy would have had the most serious form of the disease and therefore a very very short life expectancy.
So on June 1, 2009 I went for CVS Testing. It is hideous. The doctor was also hideous and slimy. But we needed to know if gummy had it because so much can be done right after birth to improve life quality for an affected child. It was a horrible day. I had to take the next day off because it still hurt.
Even though we were nervous, in my heart I knew our gummy was ok. One year ago, we found out that she was. And that she does not even carry the mutated gene - an added bonus. Excited as I was to find out that we were having a baby girl (which was all I had ever wanted) nothing will ever compare to hearing the news that our baby was ok.
Everyone should know more about Cystic Fibrosis. It is far more common than you might imagine. You can read more at: http://www.cff.org/
Jane xxx
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