FLAG Network Club Store Foundation
Home / Power Stories / Michelle’s Story (Cowden Syndrome, Breast Cancer)

Michelle’s Story (Cowden Syndrome, Breast Cancer)

Michelle's Story (Cowdens Syndrome)  My entire life, I have had one surgery after the next. They were all spaced about 2-3 years apart and most of them were for different things. The most notable was when I was diagnosed with thyroid cancer at age 9. The other surgeries were mainly benign tumors with several surgeries being for fibroid tumors in both breasts. We never thought the situations were connected, just assumed that I had some bad luck and eventually I’d grow out of it.

When I was 19 years old, I was diagnosed with a benign brain tumor. I spent two weeks in the hospital as they ran tests and eventually operated. My neurosurgeon studied my history and suggested I get genetic testing for Cowden’s Syndrome which is a mutation of the tumor suppressor gene. I had the test run about 5 months later and it was confirmed. I had a genetic mutation which had been the root cause of all of my medical problems.

Cowden’s is a mutation of the P10 gene which is the tumor suppressor gene. Cowden’s also carries a higher risk for breast cancer as well as some other cancers. When I was 25, the doctor began suggesting that I have a prophylactic mastectomy to manage my breast cancer risk. I had already had two “near-miss” biopsies so he knew the time was running out for me. At age 27, I had a prophylactic mastectomy.

While it has been a long and emotional process, I couldn’t be happier with my choice. Whatever life and my Cowden’s syndrome throws at me next, I’ve beaten breast cancer to the punch. I’m officially and proudly a PREVIVOR!

Michelle
Mississippi
Submitted 8-30-11

The informational content of this article is intended to convey a personal experience and, because every person’s experience is unique, should not be relied upon as a substitute for professional healthcare advice.

Check Also

colleens-story-breast-cancer

Colleen’s Story (Breast Cancer)

It began in August of 2013. My faithful pup kept coming and pushing on my …

31 comments

  1. Hi!
    I am so glad to read your story. I am also a Cowden Syndrome Survivor. I live in Alabama, but have family in Miss. Please send me an email. I’d love to chat.

    • Hi all! Wow I’m glad to see comments to my story 🙂 I am in nursing school and completely forgot to check back! Thank you all so much!

      Jackie I hope your surgery goes well! Good luck and best wishes for a speedy and uneventful recovery.

      Kristin- that’s awesome! I love talking to other Southern girls. I’m a goof and unable to pull up your email. (AHH) Feel free to email me at meechell83@gmail.com

      Best wishes to everyone! Happy Holiday Season!

      Michelle

  2. Awesome story. To God be the glory. You are a walking Miracle/previvor/testiment of God being the ruler in all cases. Keep living! Keep that beautiful smile you have.

    • Hi Michelle,
      So glad that you have shared your experiences of Cowden’s syndrome. I have a clinical diagnosis of Cowden’s (all the signs, but no PTEN mutation detected); however, the diagnosis came after a mastectomy for an aggressive breast cancer and a hysterectomy for pre-cancer of the uterus. It is so important that doctors are educated to recognise the signs, especially the skin features. Through checking out some bumps on my palms ( that I had always been told were warts), I recognised that I had many of the symptoms of Cowden’s syndrome and contacted a cancer geneticist, who then invited me for a consultation and subsequently confirmed a clinical diagnosis of Cowden’s. When I told my breast cancer consultant about the diagnosis, he admitted that he had never heard of Cowden’s syndrome. I think it should be mandatory that all medical staff working in breast cancer clinics should be aware of the diagnostic features of Cowden’s, especially as the literature suggests it is an under-diagnosed disease.
      I now participate in teaching sessions for medical students and show them the visible signs of Cowden’s, so if they see them in the future they will be aware of the significance of these and not dismiss them.

      • Hi,

        Yes, Cowden Syndrome (and Bannayan-Riley-Ruvalcaba Syndrome and L’hermitte Duclos Disease) are all caused by a mutation in the PTEN gene (80% 0f cases), or by unidentified genetic problems in the remainder of cases. PTEN (as opposed to P10) is just one of many tumor suppressor genes in the body.

        Cowden Syndrome can manifest as various tumors (often benign, sometimes malignant), or as tumors plus an Autism Spectrum disorder with Macrocephaly (larger than average head circumference).

        A very common feature of Cowden Syndrome would be the acral keratoses of the hands or knees or feet (warty bumps), or many small bumps inside the mouth, or bumps on the face and neck (small, smooth or warty, and flesh-colored; often around the ears or eyes or nose). These might come and go, or they migth be permanent. The age of 20 years is a very common time for these bumps to begin appearing.

        Cowden Syndrome can mean breast cancer or endometrial cancer or thyroid cancer. Benign brain tumors are not out of the question. You might get ovarian cysts from this disorder, or testicular tumors. It hits males and females equally. Lipomas may appear too — fatty benign lumps. Also, gums can suddenly overgrow or recede. Tonsils may overgrow to the point of needing to be removed, particulalry in childhood. There can be vascular problems, such as vascular “birthmarks” that tell you of misformed vessels below. A few people with Cowden Syndrome may have Lymphedema from misformed lymphatic vessels.

        Multiple hamartoma of any kind (growths on or just under the skin that are composed of the same sort of tissue they are growing on) are most often found with genetic cancer syndromes. They are markers of something else going on in the body, rather than a danger in themselves. Look up genetic cancer syndromes on Google, for more information.

        Anytime a person has more than a few serious tumor symptoms that keep requiring surgery, doctors should look for a pattern to perhaps explain this. Genetic syndromes are all about patterns. However, many doctors pay attention to their own small section of responsibility only, and not the whole picture, which is unfortunate. Protect yourself from this by asking a great many questions, and going to a good Geneticist if there seems to be a pattern.

        Small bumps that keep showing up on the face and neck, or hands/knees/feet warrant some Genetic expertise. Be doubly suspicious if these begin to show up at about 20 years of age, and do not stop. This is a sign of Cowden Syndrome.

        Remember too that a person can have Cowden Syndrome without an identified PTEN mutation. In 20% of cases, it is not yet known what causes this disorder.

        More than one cancer, or more than one benign tumor, or the bumps mentioned above, and a genetic referral is called for.

  3. Having my prophylactic mastectomy Wednesday November 30th, 2011. Had 2 of Cowden Syndrome cancers, I refuse to have a third!

  4. I am also a Cowden Syndrome Survivor. I have had 2 cancers and 2 additional pre-cancer issues. Michelle, your story will inspire many! We can survive and thrive after cancer.

  5. Hi all! Wow I’m glad to see comments to my story I am in nursing school and completely forgot to check back! Thank you all so much!

    Jackie I hope your surgery goes well! Good luck and best wishes for a speedy and uneventful recovery.

    Kristin- that’s awesome! I love talking to other Southern girls. I’m a goof and unable to pull up your email. (AHH) Feel free to email me at meechell83@gmail.com

    Best wishes to everyone! Happy Holiday Season!

  6. Wow Michelle: I didn’t realize all that you have been through. You are a strong, confident women who has made some brave decisions in your lifetime. I am proud to know you and am going to give you a hug when I see you.
    Loretta

  7. Thanks for posting. I am a nurse and have a son with a PTEN diagnosis. Thanks to all the schooling for nursing I knew something wasn’t right when this 5’2″ mom gave birth to a 10 lb 6 oz baby with a 14 3/4″ head circumference measurement. He is the only one with the mutation which took us years to get diagnosed. I appreciate your postings and the personal perspective. Best wishes in Nursing School.

  8. I am also a Cowden Survivor, I lost my mother 1 yr ago and she also had Cowden, she died from breast cancer, she had also been diagnosed with endometrial and thyroid cancer. I have had a double mascetomy, complete removal of my thyroid and a complete hysterectomy… I continue to have colonoscopys and now scans of my kidneys…

  9. It is interesting to read your stories.I am a Cowdens girl as well and in and out of hospital like a yoyo.I have found online groups really usefull.There are 2 facebook groupes and a site-ptenworld.
    good luck with the nursing

  10. I’m struck by your story. So similar to my own. The cancer I had at age 9 was ovarian and came back at 15 but I had the repeated scares over my whole life. We found out I have CS when i was 28 and my son was 9 months old and daughter was actually conceived near the time we learned. I chose the mastectomy route @30 and unknowingly had DCIS (2008). No family history really…no reason to believe my children would be affected until it was confirmed. Then I noted their large heads, flat trichelloma bumps, and they were tested in 2010. They have had minor problems and my daughters wouldn’t have been known without survelliance after learning she is positive.
    I love my kids more than life itself and would give them my very soul. Knowing our condition won’t change (we always thought I would grow out of mine too) is sometng that is better some days than others.
    You must have felt so much like I did…the scares and cancer both made worse by not knowing what was going on. I blog some too..lyahoo contributor network and don’t check comments or email much but I am xurious

  11. Im using an iPad and not used to it. Sorry about the comment being cut off

  12. OMG

    I am crying right now, My family has also gone through this terrible diagnosis of cowdens syndrome
    my mother, my sister and myself all have this , and i would love to speak with some more ppl that share this , if anyone would care to chat find me on facebook samantha bubb or email alwayslaughing15@yahoo.com i would love to speak to fellow fighters….

    • Hi there,

      I understand where you are coming from my dear. While the rest of the world was worried about mayan apocalypses… I was more concerned with the entire year of fighting with this. If that isn’t apolcolyptic to a family… I don’t know what is. Just know that you are not a lone. Please feel free to contact me.

      I’m on facebook, you can contact my e mail or blog. my FB is Mark-Magen Sparks (just let me know that you’re one of those of us fighting the den of cows.

  13. Can anyone possibly tell me how to get genetic testing, my insurance co does not cover this.
    I have had thyroid goiters, and thyroid removed. Had 2 pollups removed from my colon non cancerous.
    I have had invasive ductal carcinoma with a double mastectomy, and 4 years later anapestic large cell
    lymphoma of the same breast and now currently have ovarian cysts and one cyst on my uterine wall.
    Went to dr and had a mole taken off of my shoulder, dr said it wasn’t a mole, the path report said it was a sceloritic fibroma which is connected to possibly having CS. This link has been very helpful, I am so
    sorry so many of you have suffered with this disease, not sure how to find out if I actually have it,

    Thanks to all.

    • hello you need to get into see your dr and go to the gentics dr and they can assist yo from there

      • If anyone has issues with Cowden’s I would suggest contacting the genetic department at Ohio State University genetics department or Cleveland clinic. They’ve been angels to me and my family and if 1 person can get tested, the rest of your family would have to pay less for testing as they would only have to compare to the original tester.

        It’s very important and many places will worth with you on payment plans and even can apply for financial assistance. All you need to do is ask around. The people at OSU have been nothing but angels to me. Just don’t give up! It’s important to keep moving forward and if you need a shoulder, please feel free to drop me an e-mail and I will gladly listen. I’ve been working through Cowden’s all year this year. While the rest of the world was worried about the Mayans… I was more concerned with my own apocalyptic illnesses and mental instabilities. It’s very difficult and I want very much to be a help to everyone who has any condition similar or anyone who needs a shoulder.

    • Hi try to contact the cleavland clinic, they will help good luck fellow fighter

  14. Please feel free to contact me at anytime, I would be more than happy to help anyone going through such an ordeal. I’ve see so much and been through so much. I understand where everyone is and I am eager to let you all know that I am here for you. Please feel free to e-mail me or check in on my blog. We’re all fighters… and we can’t stop now!

  15. Hiya im in the uk.i have cowdens.ive lost my right. Leg below the knee.and also had thriod out.lump taken out of my arm.and i have another lump in my neck.and on my heart. Ive. Had lumps in my breasts.i. also have fits due to epilersy.ive. got meds for it. For dont work..never came across anyone. In the with cowdens? Im 30 now with two baby boys.beck x

  16. so what is going on there was some new studies published from dr eng they have found an additional two genes linked to cowdens?

    • Hiya they dont really know much in the uk about cowdens.every new doctor i see i have to tell them what it is.or i walk in to there office and there on google. Looking it up.im going to see my doctor about two new lumps ive got .on the 5th march to see what there gonna do.hoping there gonna do some sort of therapry rather than another op.i hate being away from my boys for too long.and dont really wanna go under the knife for the god knows how much times. Had enough ops now.im not on facebook.how do you cope with things? X

  17. Hi fellow fighters,

    i”m from Germany and I also had my “positive” testing about Cowdens Disease.I’m 43 years old now. I’vve been operatet 2009 due to breast cancer – cowden. My Stomac and my intestines are full of pollups from Cowden’s. I call them my “little friends”. Ya this is ironically *g..

    Here in Germany every second doctor asks “cowden? is this somethingt to eat” when I tell them about my Diagnosis..but in the moment it’s hard to laugh about.

    I hope someone – god or goddess – will help us to go on on our path.

    Feel a warm embrace from germany and sorry for my bad english!

    If you like you can contact me under morag19061970 @ yahoo.com.

    Have a nice time!

  18. Hiya not been on here for a while. Found out yesterday that my youngest boy as cowdens. Hes very delay for two year.doc says thats all due to cowdens.but said with right help.she also said she sees lots of kids with this gene and does not mean there gonna get lumps but the gene is there.and same goes for my older son.i kinda knew it.but still gutted.but gonna get him as much help as possible. Is there anyone else whos got kids? In uk.

  19. Hey, we are finnis/norwegian family. We just got known that our daughter has cowdens syndrome. She turns soon two. Nothing major has come up yet, they start thinking about the syndrome because she has malformations on her right leg and bigger head size. Now we wait the results if me or my husband has it too. I would like to hear out more you who have get diagnost on young age. You could send me email Kurkinen.mari@gmail.com Good to hear that we are not alone with this syndrome and all the best to all of you. ?

  20. Hi!
    I am so glad to read your story. I am also a Cowden Syndrome Survivor
    https://millionpharma.ro/

Leave a Reply

Your email address will not be published. Required fields are marked *