PTEN Hamartoma Tumor Syndrome (PHTS)

Momma P:

A little genetic testing happened yesterday

Originally posted on The Life & Times of Baby P The Sequel:

Yesterday, we finally met with the genetics doctor down at the University of Minnesota to discuss Sam’s test results.

She was helpful explaining things and making recommendations on how to manage his health along with the possibility of mine and Sebastian’s.

She explained that with the PTEN gene mutation a lot of lines get blurred between the symptoms so his official diagnoses is PTEN Hamartoma Tumor Syndrome (PHTS) (http://www.chop.edu/service/oncology/our-programs/hereditary-cancer-predisposition-program/genetic-syndromes-with-cancer-risks/pten-hamartoma-tumor-syndrome.html). So I asked about the BZ and Cowden’s and she said that going by what runs in my family and his other symptoms he pretty much has both but again rather then confuse people (and themselves she said), genetics doctors and those in the field refer to it as PTEN Hamartoma Tumor Syndrome (PHTS).

She explained that more people lead normal lives with it then those that have the worst case with it. So I was happy to hear that.

The…

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