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"