Friday, April 25, 2014

Let me explain...

I decided after my earlier post I should probably take a little more time and explain the way things played out.


The first FX test that we did was done by a company called JS Genetics it was a free test done by mouth swab. We met a representative of the company at the Fragile X Conference we attended 2 years ago. They had just gotten some type of government grant to do the testing for free. They sent the results to our pediatrician at the time and they relayed to us the results. I had never seen a physical copy of the results until a few months ago.


The reason we requested a copy of the results were because at the time we tested Payson my parents were also tested to see who carried the gene. It was my dad and we were told the results for him we were under the impression that he too was a carrier. He was going to take part in a research study for carriers so my mom had to get a paper copy of his results. When she received the paper copy we discovered that he is not just a carrier he actually has Fragile X Syndrome. He is simply not affected by it for some reason (no worries that are going to use him as a guinea pig to figure out why :) and he isn't the only one in the world but it is way less common).


So that day mom went in and requested to receive a copy of Payson's as well.


The pediatricians office was going by her repeat number when they told us she was a carrier which on the results they were sent her repeat number showed just as greater than 150. However, once I received a copy of the results and looked at the description of the results things got a little complicated. The description made it sound more like she had it rather than that she was just a carrier, because it stated that she could be effective in cognitive or behavioral way (it said this with big, complicated medical terms thrown in there).


Thankfully, the place where dad was going to be part of the research study offered to redo both of their test at no cost to us.


Yes I am mad because they didn't get it right the first time, yes I am glad that we now know for sure after a few months of things being up in the air, and yes I am sad at the same time for my beautiful daughter. However, girls are not always as affected as boys are and until she gets older we will not know for sure how she may be affected by it (that's not to say that they can't be).


I'm not sure how it was wrong the first time or what the issue was but I know that God has a reason for everything even when we cannot begin to fathom what it may be. He will walk with us now just as he always has.


X


Just Say Jesus


Praise You in this Storm









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