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“Cowden Syndrome: Big Head, Big Problems” – A Guest Post by Lara Huffman

Have you ever heard of Cowden syndrome? If not, don’t worry; you’re certainly not alone.

Every year, I share a guest post for National Hereditary Cancer Week. And btw, I am thrilled with this name change. In the past, this week was designated as National Hereditary Breast & Ovarian Cancer Week. It’s past time (way past) to make this name change. The new name (thank you, FORCE), is far more inclusive.

You might want to read, Is It Time to Start Calling National HBOC Week & HBOC Syndrome Something Else?

This year, I am excited to share a piece by Lara Huffman. Some of you are familiar with her terrific blog, Get Up Swinging. (If you’re not, do check it out!) Lara was diagnosed with breast cancer ten years ago at the age of 30. She recently learned about a genetic mutation she carries (not BRCA) in her DNA.

I know you’ll appreciate Lara’s piece. When you finish reading, be sure to ask a question or leave a comment for her below.

Cowden Syndrome: Big Head, Big Problems

by Lara Huffman

After getting yearly mammograms (sometimes bi-annually) and ultrasounds for five years, I was diagnosed with Stage 1 breast cancer at age 30. That was ten years ago.

One time during that five-year period, an older woman gently asked me what I was doing in the waiting room for a mammogram since I was so young. Like her, I was sitting in an uncomfortable chair wearing a hospital gown in the shade of Pepto Bismal, waiting for my name to be called so I could just get it over with.

Aren’t you too young to be here?” she asked.

I stared at her and blinked a couple times.

“My mom was 35 when she was diagnosed and 40 when she died.”

She had nothing to say after that. What can you say to a woman in her mid to late-20s (who looked like a teenager to some people) who just threw down the Dead Mom card?

I’m sure she meant well, but why else would a young woman be in the mammogram waiting room if not for a very good reason?

For most of my 20s, I knew I would get breast cancer. Even though my 20s was a time of uncertainty and a series of really bad decisions, I was incredibly certain about getting breast cancer. I knew I would get breast cancer just as I knew my name. I am, after all, my mother’s daughter. I look like her, talk like her and walk like her.

After my diagnosis 10 years ago and being violently pushed onto the cancer treatment bus, one of my stops along the way was genetic counseling. (Get on! But I don’t want to get on! Where am I going? Haha, wherever the bus driver wants to go. I’m scared – why is it going so fast?) 

The two reasons why I agreed to genetic counseling to see if I had the BRCA mutation were:

1. My brother’s three daughters and 2. If I had the mutation, I would’ve opted for the double mastectomy then and there.

When the genetic counselor called with the results of the BRCA test and told me it was negative, she recommended I come back for additional genetic tests. She brought up my well-above-average head size and history of thyroid issues (i.e., a goiter that made me look like I had an Adam’s apple and made me incredibly hyperthyroid), that suggested I might have something called Cowden Syndrome.

I did a quick internet search on what Cowden Syndrome was, and right away, I knew this was what I had. However, I was a scared-shitless 30-year-old with breast cancer, and I did not have the emotional capacity or support system to deal with the diagnosis of a rare genetic mutation on top of everything.

When I researched Cowden Syndrome 10 years ago, I read how those with it were high risk for a long list of cancers.

Cowden Syndrome, as defined by the U.S. National Library of Medicine (link):

Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.

Almost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person’s late twenties.

Cowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include colorectal cancer, kidney cancer, and a form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development or intellectual disability.

I already felt like I was being crushed by breast cancer. If treatment for a single cancer felt like a bus from hell to me, a genetic mutation meant that I would never ever hop off the bus and wave goodbye to the other passengers. I wouldn’t have been able to handle it.

Fast forward eight years when a fellow, young-adult breast cancer friend reached out to me.

“Sarah” was in her late 20s when she was initially diagnosed with Stage 2 breast cancer, and she also was BRCA negative like me. She told me her breast cancer had come back Stage 4 and updated genetic testing showed she actually did have a Palb2 genetic mutation.

Sarah thought of me and decided to reach out to see if I ever went back to get updated genetic counseling. I had not, but hearing of a friend’s Stage 4 diagnosis was just what I needed to crawl out of my denial hole and get this over with once and for all.

Plus, I was in a much better place after seeing a therapist regularly for six years and being on medication to help with my generalized anxiety disorder and depression. I also took up running to help me cope with my anxiety.

This time, I had the support system to handle the diagnosis.

To the surprise of no one (especially me), genetic testing showed that I do have Cowden Syndrome, which is a mutation of the PTEN gene.

I will let the PTEN Foundation’s website (link) explain it further: 

One of PTEN’s roles in the body is as a tumor suppressor gene, which means that when it’s working properly, PTEN helps suppress the growth of any cells which are trying to grow out of control and become tumors.  All of our genes come in pairs; persons without PHTS (PTEN Hamartoma Tumor syndrome) have two working PTEN gene copies in each of their cells. In people with PHTS one of these PTEN gene copies has a change that makes it not work in each of the body’s cells. As you can imagine, this puts people with PHTS at increased risk to develop tumors.

Basically, my tumor suppressor gene does not work properly, which allows cysts and tumors to have a field day in my inside and on the outside, too. (Hey, I’ll take the thyroid, and you go invade the breast and burn that down. Let’s go raaaaage and fuck some shit up.)

Even though I was in a better place when I got this diagnosis, not going to lie, it was still rough and a lot to process. I was correct when I thought I wouldn’t have been able to cope with it back when I was diagnosed with breast cancer. My new diagnosis also made me relieved that I have never had kids because this genetic mutation in my family tree can end with me.   

I have a lifetime condition, which will mean seeing an oncologist and getting preventative (I hope) screenings for the rest of my life.

I get to play tumor whack-a-mole, and I have zero control over this.

I never get to “graduate” and stop seeing my oncologist after the 10-year mark, or at anytime, for that matter. In fact, I see him twice a year and have routine blood work, IVs, CT scans, colonoscopies and whatever else this sadistic whack-a-mole game requires.

It’s exhausting, and sometimes I do indulge myself in a pity party. I am human.

Afterwards, I move on and do my best to live my life as a genetic mutant. I go for a run. Talk with friends. Discuss my fears with my therapist. Walk in the woods. Pet all the dogs.

I try to focus on what I can change and accept what I cannot.

My future may be filled with endless doctor’s appointments, scans, anxiety, and trauma inflicted on my body, but I will do my best to live a life in spite of this condition.

Just please don’t call me brave or inspiring. I hate that.

This mutation is a part of me, my literal DNA, but it’s not all that I am and aspire to be.

About Lara: Lara Huffman lives in Pittsburgh with her two mutts, Boomer and Mal. She enjoys running, photography, and destroying a Pink Ribbon Culture and exploitation. Visit Lara’s blog, Get Up Swinging, and be sure to like her blog’s Facebook page too. You can also find her on Twitter.

Have you ever been tested for a genetic mutation?

Had you ever heard of Cowden’s Syndrome before reading Lara’s piece?

Do you have a question or comment for Lara?

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Tuesday 10th of November 2020

Oh, how oh how did I miss this post? Thank you so much for sharing and helping to raise awareness for PTEN mutations and Cowden Syndrome!

Helle Nielsen

Saturday 3rd of October 2020

Dear Lara, This is very informative reading, thank you so much, and I am so sorry, you have to go through this! We wish you all the very best with your future treatments and life. Unfortunately, our family know all too well about the Cowden's Syndrome. My niece, Tanja, died in March 2020 from initally diagnosed breast cancer - which at the end had spread throughout her poor body - at the young age of 37. Tanja was born with a larger head than usual and some other signs, which we now know are related to PTEN gen mutation / Cowden's syndrome. Nobody really knew about Cowden's syndrome at that time in Denmark, actually only around 5 years ago, this syndrome was researched and taken seriously in Denmark. Tanja learnt about Cowden herself after reading about it mostly in US medical dissertations and with a kind of relief, she finally figured out, why she had always felt a bit 'different' in this world. Tanja was born with epilepsy, which was initially explained by the doctors with her head being squeezed during birth, as her head was larger than usual. At the age of 12 Tanja had her first operation for thyroid cancer, the doctors thinking removing some of the thyroid would be enough, however, it wasn't. She underwent 2 further operations to ultimately getting the entire thyroid removed. Tanja was never really completely in good health throughout her entire life and when she was diagnosed with breast cancer at age 36, it catapulted into a tripple negative breast cancer and the chemo treatments didn't work at all, the cancer was too strong. When the doctors finally agreed to remove the breast, it turned out the cancer had spread to her liver, which put an end to a possible operation. On top of everything very aggressive skin cancer / melanoma had spread on her infected breast. From being diagnosed with breast cancer till Tanja's way too early death only one year passed and at the end, it all went really fast, which was the best thing for her, as she was hurting all over and all the doctors could do, was giving her morphin. Tanja's mom of course is devastated - as is the rest of the family - and we have talked a lot about, how we can help getting info about PTEN / Cowden's syndrome out there and perhaps help others. If you have any suggestions, we would really appreciate your input. Once again, thank you for shining a light on this. All the very best Helle Nielsen


Wednesday 30th of September 2020

I had never heard of Cowden’s Syndrome before reading this. Lara, you are a great writer!

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