PREVIVOR: A person who is not diagnosed with cancer, but has survived the predisposition, or higher risk, of cancer due to a genetic mutation and/or strong family history. After being armed with this information, a previvor can make informed choices prior to a cancer diagnosis.

Monday, October 1, 2012

Cowden's Syndrome

I'm sure the majority of you reading this either had one of two reactions:

1- What? Who's Cowden and why is Michelle writing about his syndrome?

or

2- I vaguely remember that's why Michelle had a mastectomy


Cowden's Syndrome affects approximately 1 in 200,000 people. Yep, if I was going to get something that rare I'd prefer it to have been something involving the words powerball or lotto but this is what I got.

This is what I got from MD Anderson's website about Cowden's:


Cowden Syndrome 
What is Cowden syndrome? 
Cowden syndrome (CS) is a genetic condition, meaning that it can be passed to an individual 
from their parents. A person with CS has an increased risk to develop a variety of benign and 
cancerous tumors. Individuals with CS are at increased risk to develop thyroid cancer and 
women with CS are also at increased risk to develop breast cancer and uterine cancer. Many
different benign (non-cancerous) tumors are also common in individuals with CS. 
Cowden syndrome is sometimes called PTEN Hamartomatous Tumor Syndrome or PHTS.  
There is also a rare type of CS that is called Bannayan-Ruvalcaba-Riley Syndrome.
What are the signs and symptoms of Cowden syndrome? 
Many signs and symptoms can be associated with CS. However, CS affects each person 
differently and most people with CS have some of these symptoms, but not all. Symptoms 
include: 
• Learning disabilities, autism, and/or mental retardation
• Large head size 
• Certain types of lesions or papules (bumps) on the skin (a dermatologist can recognize these)  
The most common are:
− Trichilemmomas on the face
− Papillomatous lesions, particularly if they are on the face and/or mucous membranes 
(such as gums).  This can include a “cobblestone” appearance of the tongue or gums.
− Keratoses (hard growths on the skin) found on the palms of the hands or soles of the feet 
• High risk of developing tumors, both benign and cancerous 

And there you have it. Every single health problem I've had (excluding tonsils/adenoids) is linked to CS. In fact, I dare say that without CS in my life, I may have only had that one surgery. Not the approximately 20 something I've had. Rather depressing don't you think?

Except, it's not.

I was diagnosed with CS when I was 19. This was after I'd had "more surgeries than the average person" as my neurosurgeon put it. In fact, it was his idea that I get tested for CS in the first place. Did I mention that he's pretty smart?  And he pretty much knows the inside of my head better than anyone- I've had a total of 4 brain surgeries ;)

So when I was 20, six months after my first brain surgery, I got the nice diagnosis of CS. A bunch of paper was shoved my way, with instructions on how to manage my risk. I actually got my genetic counselor to see me the most recent screening guidelines for CS and it looks identical to the one I received initially.

PTEN (Cowden) – NCCN recommendations
Cancer Site (lifetime risk)
Management
Age of Initiation
Breast (25-50%)
Annual mammogram and breast MRI
Clinical Breast exam every 6 months
Discussion of prophylactic mastectomy
25y
Uterus (10%)
Annual pelvic exam and Pap
Review signs and symptoms of cancer
Discussion of prophylactic hysterectomy
18y
18y
Thyroid (10%)
Baseline thyroid ultrasound
Consider annual thyroid ultrasound vs physical exam
18y
18+y
Mucocutaneous –benign (99%)
Annual dermatologic exam
10y
Colon (9%)
Consider colonoscopy every 5-10 years
35y


Easy-peasy. I haven't quite reached the magical age where they shove a camera up my bum but all these other things I was getting screened for anyway. Except the dermatologic exam....that's my bad. I do get an annual physical exam so I would hope they would speak up if they saw something unusual. But I will be searching for a dermatologist.

The rest of the things, I'm already getting checked for anyway. For me, CS wasn't a death sentence- it really wasn't something to get angry about. It just explained all of my problems, without me thinking I was being punished for wrongs I had done in a past life. In fact, as I told a reporter today (who was interviewing me for a story about our local FORCE group), I see a genetic mutation as more of a gift. I have this information, and I know what I need to. Cancer doesn't have to be a big, scary unexpected thing. I have the tools to stop it before it happens.

I did notice on the Internet there were some talks from people about CS patients needing to be screened for kidney cancer. What the what? That's not on my handy dandy guide to CS. So I asked my genetic counselor what she thought. Her response? There's only a small fraction of CS patients that were diagnosed with kidney cancer. Kidney cancer is a very slow growing cancer so as long as I get a full chem panel/blood work up then it will catch any abnormalities. *WHEW*

So I'll just bide my time until I'm 35 and keep doing what I'm doing. It really feels like CS is a manageable condition to me. I don't really feel like my life is changed. In fact, until I started with all of this PBM stuff, I really didn't think of it much. It's just part of who I am. Michelle Renae Malone wouldn't be Michelle Renae Malone without this crazy Cowden Syndrome that no one has ever heard of.

Then, why be involved with FORCE and support groups for women having mastectomies? THAT is a cause that's dear to my heart. Whether people are affected by HBOC through genetic mutations, family history, or other factors. Having any type of preventative surgery is a big deal. I know I wouldn't have made it through without support and I  want to offer that to other people.

I'd like if other people knew what Cowden's Syndrome is though....to spare me from the thoughts I see dancing across nurses' faces 

"Is she making this up?"

I almost want to scream:

"No. No I'm not. But it'd make a hell of a book if I did make it up" 


4 comments:

  1. I have CS, reading all this only gives me one thought. It is all what might happen. Maybe tomorrow I might fall under a bus who knows, perhaps because I am a man now 61 I think who cares, if you worry about what may happen, you would never do anyhing !

    ReplyDelete
    Replies
    1. That is true, you may have CS and never get anything on that list. However, it is always smart to follow the advice of a good medical team in order to manage your healthcare. I made the decision to have my mastectomy based on advice of several doctors and my own decisions. I also was manifesting several symptoms of CS already. Thank you for reading and commenting.

      Delete
  2. Hi Michelle, I've just come across your blog and I also have Cowden's Syndrome as does my mum. My mum didn't know until a clever doctor diagnosed it in me. my mum had the usual 'more than average surgery' comment as well.

    I'm yet to meet someone else with Cowden's other than my mum but it's nice to know there are other people out there!

    I'm 25 and I've had quite a few lumps and bumps removed including my thyroid completely removed last year and I also had to have my spine fused last year (they think unrelated to Cowden's).

    It's hard sometimes but I certainly don't let it control my life and what sort of life would we have if we were constantly looking over our shoulders. My mums had cancer twice but she is my inspiration and I know I will cope with whatever it throws at me.

    My partner and I are seeing a genetic counsellor soon to start talking about options with IVF etc...we're not quite there yet but it will def be good to hear about the options!!

    Sorry for the long message, but I also have a blog (www.tattytulip.co.uk) I talk about all the bits and pieces that make me happy and then sometimes a cowdens rant, but feel free to pop over and say hello!!

    Thanks,

    Amanda

    ReplyDelete
  3. Hi, I'm Jill. I found your blog searching CS and breast cancer. You blog is insightful and informatative. I was diagnosed with Cowden's officially in the last 6 months, but I had a brain tumor and surgery in 2009, associated with CS. I have since had thyroid cancer and I had surgery for breast cancer last Tuesday. I have a WordPress blog. I'd love to share it with you. It helps me and my hubby deal with pour health issues and a few other things. Look us up if you'd like to:http://gegebearbear.wordpress.com

    ReplyDelete