This past week we started receiving results from Kenzie's genetic lab workup that had been done to see what if any mitochondrial disorder she might have. Unfortunately the results came back inconclusive. In order to have the disorder both genes in a strand of DNA have to have the defect. Kenzie had a couple genes that showed an abnormality , but the matching gene was fine meaning that is not the cause. Due to this, we have to run an even more extensive genetic lab on Monday. This will look more into the mitochondrial DNA strands, which is where the most rare causes of Kenzies condition are found. Less than 20 percent of patients who have a mitochondrial disorder find the root cause here. Needless to say always good to rule things out, but frustrating that we still don't know for sure what is causing Kenzie's ailment. They are also monitoring Kenzie's creatine levels, which are fatty acids often found in meat that help deliver energy to the cells. She may need medication to help boost these levels.
Lastly, early this morning Kenzie woke up early as usual and refused to go back to bed. So I took her down to the couch to ensure we both would get some sleep. Around 430 I awoke to Kenzie actively seizing. This was Kenzie's first seizure and we obviously took her to the emergency room. They checked her vitals and awaited instructions from a neurologist. By this time Kenzie had started returning to her normal temperament and alertness level. Based on the advice of our local neurologist Kenzie was prescribed some anti seizure medication and released.
Obviously a lot happening in a short time. Kenzie will go to the geneticist Monday to get blood drawn for the new genetic tests. March 9th Kenzie will see a cardiologist as a precaution to make everything is good there. Then we go back to Boston in April. We may need to do an EEG test in Boston to map Kenzie's brains electrical activity.
Thank you for the prayers and good thoughts .... without family, friends, and God .... this would be so much more difficult than it already is.