One of the things I am most passionate about is connecting with others who have this PTEN gene mutation called Cowden Syndrome. I know I have said this many times, but I only wish SOMEONE would have told me 6 years ago that I am not alone and I am not going to die tomorrow.
Connecting with others through social media has really given me a boost of strength. I am always excited and humbled when those warriors agree to share their story with me and others: We have so much to educate the world about! I have met a few persons who don’t wish to take part. Of course that is their choice and I must respect it. I just want to tell the
World Internet that there’s this “other thing” that can cause breast cancer, brain tumors, etc. that has nothing to do with the BRCA gene.
I am excited to introduce you to Cora – here is her story (and incidentally, it’s quite similar to mine!)
When I was an undergrad, late teens and early 20s, I would get headaches for which there are no bad words, no curses strong enough to cover the pain I felt. I would feel a pounding in my ears and in the back of my head; I wept every time. They usually came around mid-terms and finals so I wrote them off as stress headaches, took my 4 Extra-Strength Excedrin—every couple of hours— for the duration of the headache, and carried on. They would eventually go away so I didn’t think anything of it.
From that time till 2002, I really don’t remember having any other experiences, any other headaches but in late 02, my then-husband and I lived in Buda, Texas, and the headaches returned. For some who have allergies, the greater Austin area is awful; I found out that I was one of those people. I took the headaches as sort of a violent reaction to the pollen that was floating around in the air. I started on my daily regimen of 3 or 4 Extra-Strength Excedrin again and things seemed to even out.
I don’t know when it happened but at some point I started waking up at around 4am every morning from the pounding in my head. I’d get up from my bed and tip toe downstairs to sleep sitting up on the couch; that’s all I could do because every time I laid down the pounding would start again. It started to take a toll on me. One day, in the parking lot of the local Sam’s I passed out. Thankfully someone saw me and brought me inside; thinking it was related to Diabetes, they brought me some orange juice and after a few minutes I felt fine. I passed out again a couple of weeks later, in the shower of all places. With the passing out came problems with my vision and I decided to go see an ophthalmologist. The doctor told me that the vision problems were the result of a “swelling of the optic nerve” caused by, among other things, a brain tumor. He ordered an MRI and that’s when everything started.
The MRI showed that I did indeed have a mass in my cerebellum preventing the proper flow of spinal fluid (reason for the pounding). The MRI was on a Thursday and the doctor prescribed a course of steroids for me to shrink the tumor a little so the headaches would go away; headaches went away but I found that “riod rage” is real, it was awful.
Went to see the neurosurgeon on that following Monday and he told my ex and myself that he “really wanted me to go into the hospital immediately because he really wanted to take the tumor out the next morning” so in I went. I seem to remember someone saying that it was 5 centimeters, it was congenital so it had time to grow. I was 32-years-old.
After the surgery, I remember coming to with my ex, my mother, and my son in the ICU with me. Long story short, they’d removed the tumor and I had what I call a “straw” coming out of the top of my head; the doctor wanted to see if the spinal fluid pressure would equalize or if I would need a shunt (I didn’t it turned out). They’d only shaved the bottom half of my head (??) and the top right bit above my eye for the “straw”. My son, who was 6 at the time and will FOREVER be the most brave human being on the planet…ever, told me I looked like Two Face from Batman from the crazy hair—I love this kid forever.
Next morning the doctor came to see me and we discussed what the next step was. He told me that their pathology books didn’t know what caused it but that it was L’hermitte Duclos, a rare benign tumor. I remember that he told me it had begun to inculcate itself into my brain but being benign, he removed only what he needed to to clear the path for spinal fluid.
No one could tell me what had caused it so I made peace with the weirdness of it and that I was alive and, over the next few years, googled the name of the tumor trying to find out what I could. I kept seeing the name Cowden Syndrome come up in the papers I could get free access to on the net.
In 2003, we’d moved back to Baton Rouge and I got in touch with a neurosurgeon in New Orléans to continue whatever treatment I needed. I brought up to him what I’d found and asked if I needed to speak with a geneticist. He repeated what my first surgeon’d told me, that they didn’t know what caused the tumor, but that he’d happily hook me up with a geneticist if I wanted to… I said yes and met Dr. Thomas. I explained what had happened to Dr. Thomas and he took some measurements, asked me some questions, and we eventually did a DNA test to see if my p10 gene was indeed messed up—it was. Immediately we tested my son and he is fine, thank God.
Wondering how the hell I’d stumbled across all of this Dr. Thomas told me that if an anomaly existed in someone’s genes it would come from the father if he were to have kids after the age of, I think, 53. My father was 54 when I was born.
In 2005, Dr. Bhushan, the best endocrinologist on earth, found growths on my thyroid that were too small to be aspirated with a needle so he suggested that I get my thyroid removed to be biopsied. I did and it was benign.
In 2007 I had a spinal fusion. Completely unrelated to CS but it was an hereditary condition that my siblings and I got from our father.
In 2012 the big deal happened. A mammogram showed that I had some tumors in one breast. My breast doctor along with my gynecologist and I decided that it was important, because of CS, that I have both breasts removed. Before the surgery, we found that there were tumors in both breasts. I had the double complete mastectomy with reconstruction and have been fine since.
I am humbled by Heather’s asking me to post what I went through. I ask your indulgence because I am not a writer and I know that mine is, by far, not the worst case of things. If anyone has a question, or news to share, I invite you to contact me at firstname.lastname@example.org.