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It is never possible to predict how people will react to the knowledge of either having or not having a 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:
Samples provided can be used for research
Ones ability to deal with a positive result
Survivor's Guilt - A negative result may be as difficult to accept as a positive result. Those who test negative may feel guilty for not 'being the one'. They may feel depressed and saddened that someone else in their family may die from the disease.
Life decisions may be viewed differently if the results are known. For example,
Whether to get married or When to get married
Whether to have children or When to have children
When to travel
Whether or When to go to college
Financial Planning Decisions
Preparedness – having life insurance, health insurance, living will, durable power of attorney for healthcare etc.
Possible prevention of transmission to other individuals via: organ donation or invasive testing
Determining the fate of future generations
Religious beliefs - some feel the will of God or a higher power is what determines when and how they are to die and they choose to leave that knowledge entirely to Him.
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.
Deciding whether or not to get tested or know ones results can be further complicated when a parent chooses not to know but their adult child/children want to be tested. The child’s decision is not only impacting them personally but will also have an impact on their parent – a very complicated decision that requires thoughtful and serious consideration.
Three options are available regarding mutation testing and knowing or not knowing your results. In order to be tested, seeking guidance from a Genetic Counselor is highly recommended and may be required before getting tested. These options are:
1. Test for the mutation; contribute to research; and have the result kept on file at the institution in which you were tested. The results can be sent to you at any time upon your written request.
2. Test for the mutation; contribute to research; and find out your individual result.
3. Do not get tested.
Please remember that the test result is completely CONFIDENTIAL. Genetic results will be sent to either your provider or a genetic counselor – they cannot be released to the individual. If results are sent to your medical provider, you will need to ask him/her if the results will be in your medical record. If yes, the results are discoverable.
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 or genetic counselor of your own choosing to whom the test results should be sent (only if you 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 sent the same day in a well-insulated shipping container at room temperature by Fed-Ex overnight express to:
National Prion Disease Pathology Surveillance Center
Institute of Pathology
Room 419, Case Western Reserve University
2085 Adelbert Road
Cleveland, OH 44106