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The History of TSE (Prion Diseases) Caring for a loved one with CJD Getting tested for the CJD Mutation
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GETTING
TESTED It
is never possible to predict how people will react to the knowledge of
either having or not having the CJD mutation.
Reactions may vary from nothing more than a healthy reappraisal of
the prospects for a lengthy future life and attention to providing in
advance for one’s family, to a progressive state of anxiety and
depression. Certainly,
at a minimum, most mutation carriers find themselves becoming ultra-alert to
every sign of illness wondering whether it might signal the onset of CJD.
That is something one must live with, and some do it better than
others. Not
having the mutation sometimes leads to feelings of guilt: “why was I so
lucky when he (she) was not’? Regardless
of the outcome, getting tested for the CJD mutation is a very personal
decision. Everyone will
approach the decision to get tested in different ways and some may even
choose not to get tested. No
matter what, this decision needs to be given serious and thoughtful
consideration. There
are many advantages and disadvantages to getting tested. Consider the following and remember, this list is not
exhaustive:
Some of you might say after reading this list that we should live our life to the fullest everyday regardless of these test results --- we don't know if we will be here tomorrow or not. You are absolutely correct, but we are human and often take life for granted. As was mentioned previously, this is a very personal decision and should not be taken lightly. Three options are available regarding mutation testing and knowing or not knowing your results. These options are:
Please
remember that the test result is completely
CONFIDENTIAL. _________________________________________________ If
you wish to be tested, please adhere to the following steps. 1.
Write a letter in which you A) specifically request a genetic blood
test for mutations in the PRNP gene, B) indicate whether or not you wish to
know the result, C) include the name of a personal physician of your own
choosing to whom the test results should be sent (only if you do wish to
know the result), and D) include a brief description of the disease
as it occurs in the family, the ethnic origins of the family (if known), and
a pedigree indicating accurate blood relationships and affected family
members. 2.
Have 2 lavender top tubes (EDTA anticoagulant) of your blood drawn in a doctor’s office,
clinical laboratory, Red Cross facility etc.
Most laboratories are set up to send the blood directly to the
testing facility. 3.
The blood should be drawn on a Monday or Tuesday and
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