Living with Cowden’s Syndrome

I would like to introduce, Kristin my patient partner who has Cowden’s Syndrome.

I am living an amazing life. I have a MBA, I have run marathons, I have completed triathlons, I have lived in Europe, and I am a happy Mom to two beautiful children. I have an amazing husband, family and friends, and though life is challenging, I am as happy as I have ever been.  My journey began late 2009 when I was diagnosed with FVPTC. Short for a follicular variant of papillary thyroid cancer.  This diagnosis came as a shock after just returning from a short stay in Regensburg Germany. The Thyroid Cancer diagnosis was scary, however the doctors cautioned not to worry.  Thyroid Cancer is the, “Good Cancer” to get.  Ha Ha.  Has anyone heard that before?  I am a rational fairly calm person, I thought to ok, no worries, and myself.  Unfortunately, after two surgeries and radiation treatment for the thyroid cancer, I couldn’t shake the feeling that something wasn’t right with me.  A couple of years prior to my Thyroid Cancer diagnosis my Mom was treated for breast cancer.  At that time I decided I would be brave and push to get my first Mammogram.  I was shocked and completely overwhelmed when that mammogram resulted in a biopsy.  I believe I was 32 years old at that time.  Again, the Doctors encouraged me not to worry.  I think I heard “don’t buy trouble, more often than not.”

Fast forward a couple of years and my Mom was diagnosed with her second round of breast cancer and I had undergone another scary mammogram and biopsy.  Red flags were flying for me at this point.  I decided I would do a little research trying to understand if there were any link between Thyroid Cancer and Breast Cancer.  In my research I googled and found Cowden Syndrome or (PTEN Hamaratoma Syndrome)- characterized by multiple non-cancerous, tumor-like growths called hamaratomas and an increased risk of developing certain cancers. Thyroid, breast, endometrial, kidney, colon and skin are cancers known to be associated with Cowden Syndrome.  As I read and learned more about this disorder I realized that several family members and I met allot the criteria for Cowden Syndrome.  I discussed this at my local cancer center and was told that I might be on to something and that they would send letters to my doctors.  I called to follow-up with my cancer center about the letters and learned the ball was dropped. I was disappointed, however I was introduced to the most amazing genetic counselor, Carla.  She was warm and encouraging, and along with the head oncologist, encouraged me to enroll in a Cleveland Clinic study.  She said knowing if I had this syndrome would help in my future healthcare, perhaps that of my family and hopefully other families as well.  I trusted her and decided that it was best to enter this study and several months later we had our confirmation that I do have Cowden Syndrome and what that means for me today. Learning that I have this genetic disorder and what that means for me has set the wheels in motion for an incredible ride.  Last February a letter from the Cleveland Clinic notified us that several of my cancer risks had been re-adjusted.  The most concerning to me was an 85% lifetime risk of breast cancer that was once thought to be 50%.  My husband and I visited several oncologists, as well as other physicians.  All of the doctors advised that a prophylactic Bilateral Mastectomy was something we should consider.  After a lot of thought and prayer, I went through with my bi-lateral mastectomy surgery on   Nov 7, 2012 and I had my exchange to implants Feb 1, 2013.  I can’t describe the sense of peace that came over me with my surgeries.  I had amazing support from family and friends and I truly feel like my surgery was in God’s plan for me.  My risk for breast cancer is now very low and I can honestly say I have no regrets.  I feel blessed to have knowledge of my genetic makeup because it allows me to be proactive with my health.  I also strongly support advocating for your health and listening to your instinct.

Posted in Patient Stories
3 comments on “Living with Cowden’s Syndrome
  1. I was diagnosed with Cowden’s after a visual exam from my dermatologist. It was before I had breast cancer. It identified Cowden’s and sent me for a mammogram. I’d developed Cowden’s about 9 months after a perfectly normal results. It reoccurred again after 15 years. My medical history prior to this was full of the usual symptoms of the disease. Could someone friend me and make it possible to read the entries as well as new information on the website.

  2. Sacha says:

    Thank you for your blog. I went through a brain surgery and my mother just announced that she as the genetic make up for CS. I’m very scared, but reading your blog helps a lot.

    Thank you again.

  3. Donna Van Horn says:

    I too have cowden’s. I have had it for years. Thyroid, breast, GI and skin. But, I just got a call today I may have something ovarian stuff going on. My Pcp has always done my gyn and doesn’t know or understand much about my cowdens so is thinking about sending me to just a regular gyn dr. I live in Maine but, all my cowden specialist are oncologist in each field in boston through Dana Farber and Brigham and womens. I’m thinking I should have someone from there look at the report from the Transvaganial ultrasound and knows more about cowdens. Do you have any suggestions who you would go see?

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Archive of posts from Marathon runners dedicated to making a positive impact on the lives of people with serious disease.