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?


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 
• 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)
Age of Initiation
Breast (25-50%)
Annual mammogram and breast MRI
Clinical Breast exam every 6 months
Discussion of prophylactic mastectomy
Uterus (10%)
Annual pelvic exam and Pap
Review signs and symptoms of cancer
Discussion of prophylactic hysterectomy
Thyroid (10%)
Baseline thyroid ultrasound
Consider annual thyroid ultrasound vs physical exam
Mucocutaneous –benign (99%)
Annual dermatologic exam
Colon (9%)
Consider colonoscopy every 5-10 years

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 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" 


  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 !

    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.

  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 ( 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!!



  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:

  4. Oh my I love you! This has made my day, last week I was diagnosed with Cowden Syndrome (big head syndrome in my eyes) After having womb and thyroid cancer from 20-22 which I now am. Waiting for them to test my mam and dad but it appears I'm the first, I've had thryiod out and a full hysterectomy, waiting for my boobs off now by choice this time woooo!

  5. Well..I too found out I have a PTEN mutation..meaning CS ( and possibly Ruvabaca as well)
    They found and treated my Stage III bladder cancer my removing my right kidney,my right ureter and part of the bladder..then 2 months later it was on to deal with my kidney cancer on the left kidney ( this one was a stage I )..and I'm still left with a conjunctival carcinoma that the Drs think was triggered via a paraneoplastic mechanism from the bladder cancer
    But having the genetic report now helps in getting in front of upcoming further cancers ( thyroid and colon come to mind)

  6. My daughter was diagnosed with CS at age 17. She has been an inspiration to me. Although she does not follow the guidelines set forth for prescreening as I would like her to, she's 21 now and has already been considering the options of preventative surgeries. I'll mention your blog to her and maybe light a fire. The one good that has come from this is that we have done the math and realized that back at least 3-4 generations (of everyone having horrible luck and having the big C), that hey... maybe it's a syndrome. Maybe we can even stop the bloodline of this with genetics testing and IVF and what ever else the medical world dreams up. God didn't give us something that we couldn't learn from. And the blessing is my beautiful, smart and hilarious daughter. If it had to happen to someone at 17, she's the one that could handle it and succeed. Thanks.

    1. Poor thing! I'd be glad to talk to her (or you) if you need someone!

  7. I'm Jordan I was diagnosed with cs at the age of 7 I went through preventative screenings from then till now I'm 30. I feel that over the years that cs was a death sentence for me. But now knowing that I'm able to live a full remarkable life I don't feel as I used to. I would too like to reach out and tell people and families that if you need someone to talk to I'm glad to help

  8. Hi , I'm 57 and just found out I have CS also, which explains all the cancers I've had, 3 cancers 6 times, they don't know where the Non-Hodchkins fits in, going soon for RAI after diagnose of recurrent thyroid cancer. Also have had to deal with the loss of my oldest son to the Iraq War, ENT Surgeon wants to do a bi-latterial neck dissection on me after the RAI, had my thyroid out 25 yrs ago my name is Cathy MacFarlane