Saturday, May 20, 2017

Kenzie update and results

This past week has been a struggle as on Tuesday I came home with Kenzie while Cyndi was still at work and Kaitlyn at school.  As soon as we got inside Kenzie went unresponsive and shortly thereafter started seizing.  Needless to say a short ambulance ride later we were at Maine Medical Center.  After spending a few hours there and several lab tests we were discharged. It is believed the seizure was brought on by a high fever Kenzie developed.  With Kenzie's condition apparently colds, lack of sleep, and some other things can make her more susceptible to having a seizure. For now her seizure meds have been increased and her fever or cold seems to have finally fully left her yesterday.

In other news Kenzie's blood work from her full genome genetic workup came back Friday.  It showed no clear findings.  There were 2 maybes found though that would require further testing.  One is a nuclear DNA cell.  It seems unlikely but is showing 2 pairs hence maybe a cause.  For this one Kaitlyn would need to be tested to see if she has the same pairs.  If she has them then thst finding would be insignificant because Kaitlyn is healthy.  The other maybe is a mitochrondial cell which shows only 2 percent affected.  For this to be checked further most likely a muscle biopsy would need to be done.   All of this information thus far has been delivered only by the local geneticist office.  We are waiting for Dr Rodan in Boston to get and analyze the results. Once he contacts us we will have a clearer view of what the next course of action is.  We would much rather have any further testing done in Boston.

So really still no clear answers at this point.  We will send another update next week after Dr Rodan calls.  Thank you all for your continued prayers.

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