Congratulations, you're a mutant! So now what?

Cowden Syndrome is a neat little mutation that occurs on a person's PTEN gene; in layman's terms, this gene is responsible for regulating cell growth and in people with Cowden it seems to work either intermittently or not at all. Essentially, it can cause uncontrollable cell growth. While most of the tumors I grow are benign, I have a:

35-85% life time risk of breast cancer
10-38% life time risk of thyroid cancer
5-28% life time risk of uterine cancer
~9% life time risk of colon cancer
~5% life time risk of melanoma
an increased risk of kidney cancer

Cowden is a rare disease, with a prevalence rate of 1 in 200,000 people. This probably also means that most people with this mutation don't know they have it, and may only discover it when confronted with cancer. My dad and his sister both died young from cancer, and we suspect they probably both had the mutation. My dad in particular had seen a long litany of specialists over the course of his life and no one had ever put two and two together-- sometimes diagnosis is pure luck.

I was diagnosed in 2016 after serving as a control in a genetics test for my sister, and since then my husband and I have been figuring out how to navigate the world of "cancer/not-cancer". There are resources out there, but the internet can also be a cold, scary place that is great at amplifying fears and loneliness and not so great at providing grounding. Treatment teams can also be hit or miss-- I have several surgeons I love, an oncologist who is great at her job but is very much an oncologist (meaning she's squarely in the camp of let's just cut it all out!), and a list of other doctors I have dropped because they saw me more as an interesting Cowden challenge than an actual person.

Heritable cancer syndromes are uniquely challenging because you exist in the liminal space between having and not-having cancer. I pretty routinely find myself struggling with not wanting to disrespect the lived experience of people with cancer by identifying myself with them (i.e., cancer screenings pale in comparison to chemotherapy) but at the same time we are always looking for it and I sometimes feel like I already have one foot on the other side. Cowden can feel like a curse or a waiting game-- which is often reflected in the panicked posts of people in Cowden support groups. When so few medical professionals are aware of the syndrome, you have to be your own advocate and sometimes play medical detective-- sometimes I am very tired, is this related to Cowden? Is this cough incipient lung cancer? Is this a pimple or a papilloma?

The smartest, most responsible thing for me to do (and really my best option in terms of treatment) is to undergo regular, thorough cancer screenings. Basically, I spend a lot of time in MRI machines and hardly ever look good in hats (although a knit beanie can sometimes work thanks to its generous give).

Keeping this cap on was a remarkable combined effort between myself, hairspray, and the world's entire supply of bobby pins.

My yearly breast cancer screening regimen, by degree of boob reveal discomfort:

Diagnostic ultrasound at least twice a year. Depending on where you go, this involves laying on a table in a cold room while a less than talkative tech slathers you in ultrasound goo while you and the breast not currently being examined huddle under a tiny towel for warmth. If you happen to go in October you will be led to a room covered in pink crepe flowers, except for the one black one they decided to hang directly over the table in your line of sight. Boob reveal scale: Topless beach that you don't even want to be at, and also there are mosquitos. Arguably the worst of all the screenings thanks to the unique mix of nausea, awkward silence, and the fact this person who won't laugh at your jokes is busy measuring your nipples.
Follow up with breast surgeon once a year. Definitely completely topless, although you are given a hideous tiny caplet, ostensibly to keep your shoulders warm. It snaps at the neck, which is kind of snazzy if you are going for Madeline-meets-the-breast-surgeon chic. Boob discomfort scale: A bikini top that is four sizes too small, but its the only swimsuit you've packed.

Take your post-op cues from Madeline, who did not give a fuck.

3. Bilateral breast MRI once a year. While no doctor is involved, you are topless and requested to lay on your stomach and place your breasts in a "small depression" while the MRI machine works its magic. Boob discomfort scale: That episode of Lizzie McGuire where she gets her first bra. Bonus points for getting to keep on a full coverage gown, plus you get free hospital socks and Xanax.

4. Mammogram once a year. You're totally topless, but you're only revealing one breast at a time and it takes like 10 minutes in total. Loses points for having to wait in a second waiting room for women only, which always has HGTV playing in the background. Boob discomfort scale: Natalie Portman's white outfit in Attack of the Clones. You're mostly covered but its still awkward.

The only real certainty that's come for me with Cowden is that more people have touched my boobs than I can count, and the number of t-shirts with boobs on them I own has also risen exponentially. My current personal favorite is this Kaye Blegvad shirt from Stay Home Club.

It can sometimes feel like chronic illness is something you don't talk about in polite company, which makes an already heavy burden heavier. I hope by speaking frankly and openly about a sometimes mystifying and terrifying diagnosis, we can start to destigmatize talking about chronic health issues.