Many people have recently asked how everything is going with me, Charlotte and the OTC. We have made some headway, but are still awaiting lots of important answers. After all Beaux's testing came back, the Genetics Department at Texas Childrens Hospital found that he did not have mutation in his DNA liked they had predicted, but instead it was a deletion in his DNA. This could lead us to some positive news, but it is still too early to tell. A deletion in the DNA
could mean that his OTC was just a freak deal and I am not a carrier, therefore Charlotte would not be affected. I did my portion of the testing and blood work last Friday at Texas Childrens Hospital. It takes 4 weeks for the results...so more waiting...
What we are hoping and praying for (we hope you will include us in your prayers) is that I do not exhibit the deletion in my DNA. If I do then they will continue testing on me and Charlotte and see how she and I are affected, modify diet and most likely start a regimen of medicine.
It is hard for me to conceptualize an illness when I for the most part have led a healthy life. I feel good, other than just being worn out from being a new mom. So for now more waiting.....