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Thursday, December 29, 2022

Houston, We Have A Problem!

Since my last post a few things have transpired.  

I did provide blood samples for my genetic cancer screening panel.  I received a follow-up call yesterday (12/28) indicating that the results were back.  According to the results, I had no mutations that would indicate a proclivity to cancer or the cancers within my hereditary tree.  Interesting.  However, there was one gene that had an uncertain result.  According to the caller, this gene is unknown at this time so the uncertain result will be treated as 'negative' until more science/data is available.  As a reference:

WHAT ARE THE POSSIBLE RESULTS OF GENETIC TESTING?

1. Positive Result (pathogenic or likely pathogenic variant): An alteration is found that is
harmful to the gene. You were born with an increased chance of developing certain
types of cancer in your lifetime, with specific risks based on the particular gene
involved.

2. Negative Result: No harmful alteration is found

a. Uninformative negative result: No alteration is found in you and an alteration has
NOT previously been found in another family member. You may still have an
inherited risk to develop cancer because of an alteration that was not detected in
the gene(s) being tested, OR in another gene not analyzed in this test. However,
most cancer is not due to inherited risk. Cancer screening recommendations can
be made based on your personal and family history.
b. True negative result: No alteration is found in you, but an alteration was found in
another family member. If you do not have the alteration that is in your family,
then you likely do not have the same increased cancer risks as family members
who do.

3. Uncertain Result (variant of uncertain/unknown significance or VUS): A difference was found in a gene, but its meaning is unknown. This inconclusive result may or may not be associated with increased cancer risk. Most VUS results are just normal differences in genes and are not associated with an increased risk of cancer. The lab will continue to evaluate this finding, and we will try to keep you updated about the meaning of this result.

So there's that.

Schedules

I did receive my schedule for my next round of BCG treatments, however, I do have a conflict on January 11th.  I have an appointment with Dr Mossanen in Foxborough at 10AM.  I have an appointment at Northeast Urological for BCG at 10:30.  Prior to Christmas, I had called the scheduler to see if I could be moved to Thursday or a late appointment on Wednesday.  I hadn't heard back, but I did talk to the Physician's Assistant today and he said that I could skip a dose if necessary.  They will just tack on the missed dose on at the end.

 Failure to lift off

Well today was to be my first round of BCG.  Last week I provided a urine sample and the test results were normal.  I provided a fresh sample today and Michael (the PA) indicated that there was blood present.  Although it couldn't visibly be seen, the indication was enough to cancel today's induction of the BCG vaccine.  Bummer. I have to wait until, next week now.

More to come!

 

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