I didn’t want to do much ranting or complaining as of late. Because news. Yet, I have this blog and continue to share because I hope I can educate ONE PERSON about Cowden Syndrome who might have never heard of it before me. (Like the technician who did my mammo who’d worked in healthcare 20+ years who’d never heard of a PTEN mutation.)
One of the signs or symptoms of CS is a large head, macrocephaly. (NOTE: I can’t tell you how many times Post-diagnosis I’ve asked my Mom, “No one said I had a big head? No one made mention? Anyone? Nothing?”)
I can connect the dots in my past NOW, of course, never finding a hat that fit right, etc etc. Never thinking it was a sign of THIS!
Moving on: I have to now use a sleep mask. I’m not mad about it, I really actually love it now. However, what I AM kinda made about is this Disney sleep mask doesn’t fit! I’ve tried it a few nights already and my temples/forehead pulse and I can’t sleep. This wasn’t a KID sleep mask! It was marketed/packaged as ADULT, meaning one size should fit ALL.
“What brings you in today? I know we just saw you in March.”
W E L P …
I met a very nice hospital employee this morning. I am finding more often I am getting nice ones, which is a huge deal! When you have to interact with a sucky medical employee it’s such a freaking drag!
As I was in the exam room, I began my story:
- PTEN mutation
- Breast Cancer risk
- Similar to BRCA mutation
- Brain tumors
And the list goes on. I kind of have my “go-to” story when I meet new medical professionals. She was friendly, and I could tell she has been around the block (but I don’t mean that at all in a negative way). She says to me, “I have been around over 20 years and I’ve never heard of PTEN mutation.”
GAH THIS IS SO WRONG PEOPLE!
She was nice to let me rant a few minutes about how irritated I am that “everyone” seems to know of BRCA mutation, but no one does of PTEN and it’s JUST AS SERIOUS AS BRCA! (I would like to add here though that any medical condition that causes a woman to be at high-risk for breast cancer is serious, whether it is a 10% lifetime chance or 88% lifetime chance. But, anyway…)
I made it through the appointment with flying colors (haha) and then got dressed and went along my way. As I was going to my car our entire conversation really struck me: How
thankful lucky I am to have been diagnosed as quickly as I was. Can you imagine if I had Cowden Syndrome and yet didn’t know about it yet? Regardless of zero family history of cancer. What about all these women who are getting tested for BRCA mutation and yet PTEN mutation is conveniently being left off? I really feel that Cowden Syndrome really isn’t as rare as the numbers say, and that is paralyzing for those who have it yet either aren’t diagnosed with it, or are diagnosed later than they should be, or have had multiple cancers (breast, thyroid for example) and that is not coming up on anyone’s radar?
Gosh, I could go on and on about this of course. My hope and prayer that at least one person will be educated about PTEN mutations via either my story, or another’s who has found their voice to shout! (NOTE: the employee did say, “Thank you for educating me about that” which was really nice. Those types of conversations really give me strength to keep writing, because validation.)
PS: Please visit my link and consider supporting if you can. Every bit helps! ❤ Thank you. Let’s all bring awareness for PTEN mutations.
It’s Fall y’all!
But seriously. I have begun steps to “turn over a new leaf” – and I can’t wait! If you’d like to come along for the ride, message me and I will give you the password for the protected posts.
Have a great weekend!
There are several moments I wish I could recreate: my high school graduation; graduating from college; the day before my Dad passed away; a trip to California Adventure the beginning of July 2011 where I watched World of Color, and those are just to name a few.
I can absolutely 100% state that there is one moment I wish I never experienced, nor ever wish to experience again.
A few months before I was diagnosed with the brain tumors, my left eye was twitching constantly. The top and bottom eyelids wouldn’t stop twitching! It was so annoying. I went to a few natural doctors around that time (not for the eyelid specifically) who did different types of testing, including muscle testing. The doctor said I had an intolerance/allergy (I cannot remember the exact term he used) of American cheese, wheat, and something else that I can’t remember either (hello brain tumors and menopause. I can’t remember crap anymore!)
It’s interesting to note that at that time (6+ years ago) I had been
loving er, I mean living on triscuits and cheese. I think that’s only incidental but hey! You never know. hehe
I don’t remember either if the supplements he started me on did anything to help my eye. I do remember though getting diagnosed with a 5 cm. brain tumor 5 months later (cough! cough!)
So, my point is: I don’t think my left eye has twitched once since this whole Rare Disease stuff began.
Guess what started twitching 3 days ago? And, coincidentally I skipped my brain scan this mid-year. (I am ready to do the MRI’s yearly now.)
But that’s really here nor there.
*ALSO: I have made a few more changes to my Teespring storefront: Please take a look!