Thursday, April 7, 2011

Great News!

Kenzie and Lexie saw the Metabolic Specialist from Portland today. They do not have VLCAD Deficiency. Thank the Lord! Both girls have only one mutated gene which means they are carriers of the Deficiency, but are not affected by it. Either David or myself is also a carrier of the deficiency and passed it on to the girls. There is a slight possibility (less than 5%) that they still could have it and that the test just couldn't find the other abnormality in the gene, but, this deficiency is so rare (it only affects 1 in 50,000 babies in Oregon a year) and in order for the girls to have it, David and I would both have to be carriers and then they would have had a 1/4 chance of getting it. We could do further testing (a skin biopsy to grow skin cells to see how the cells use/store fat) but, we have chosen not to do this because of the very slim chance of them actually having it. The test would take 4 months before we would know anything, and even then, there is a possibility of not really knowing for sure. The doctor said that even if they have the deficiency, it is the most mild case of it, and they really wouldn't suffer from it. And, he wouldn't treat them for it. Nothing would change. So, we are leaving it be. We believe they do not have it and are completely healthy! They were weighed today and we found that Kenzie is up to 8 lbs 14 ozs and Lexie is 7 lbs 10 ozs. Really healthy weights for 6 weeks old! Obviously mama's milk is doing something right!

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