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) ( 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.


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Long Time No Write

I have neglected this blog for a while. Yes, there have been a few pictures here and there but overall nothing of substance.

There is part of me that just doesn’t feel like writing, heck I can’t even seem to want to write in my LJ most of the times these days.

There is stuff swirling around in my noggin but trying to get it written out is hard.

I think the bulk of my problem is I feel like I did about this time last year.

Just feeling overwhelmed again with life, mostly work and Sam’s appointments. Being this is not a locked up blog we will skip the work talk.

So Sam’s appointments and such, I am just tired of going. I shouldn’t be tired as he needs them. They are important and they help him but somedays it’s hard to keep up with going to them and then off to work or work and then trying to get to them.

I know it could be worse so I shouldn’t complain. I am trying not to but PT once a week, OT once a week, speech once a week and then early intervention once a week as well. Juggling that with work and trying to have family time and me time. It’s hard and exhausting…

Thus being overwhelmed and for some reason I am back to feeling like I am waiting for the other shoe to drop with Sam. Maybe it’s due to the genetics testing and not having results yet. I don’t know.

He’s doing good in therapy and I am always so happy seeing that progress. However in the back of my head, I feel so anxious that something is going to come by and crush that feeling.

I have been trying to take vitamin D and fish oil to help with some of the anxiety and depression like feelings. I took that combo after I had Baz to help with some baby blues and it seemed to work then but I don’t feel like it’s working now. I have my yearly girly examine today so I will be chatting with the doc about that.

So, that’s how things are here.

Hopefully I can attempt to get some more writing out soon.