Tag Archives: awareness

Fricka Fracka- What the Heck is BRCA?

Hiya! Howdy! Ahoy there, mateys! I’ve missed all of you. I have been so very absent from the blog lately, because I had no idea what the heck to tell any of you. So . . . I’m going to start at the very beginning- because “The Sound of Music” taught me that is a very good place to start. All of this is important, because it leads to a coming announcement for the Crazy, Chronic Life community- but I’m going to save that for a couple days.
If you’ve read our book, you know that medical research is important to me. So much so that I am registered with ResearchMatch.com to participate in medical research studies. Typically, it consists of me filling out questionnaires and submitting them to someone who is compiling data for a study. I received an e-mail asking me to participate in a genetic testing clinical trial at Vanderbilt University. All I had to do was allow the study coordinators to collect a vial of blood- and I got a $40 Amazon card. Character flaw admission- I will do almost anything for an Amazon gift card.
So . . . here’s the thing. If you allow someone to analyze your DNA, you will find out stuff about your DNA that you would prefer not to know. In my case, I got a letter (almost a year after I had given the blood sample) telling me I had a pathogenic mutation on the BRCA2 gene and should see my doctor immediately. Here’s the embarrassing part- I had no stinkin clue what that meant, so I shoved the letter in a drawer. I learned my coping skills from an ostrich apparently.
A month or so later during a check up with my PCP (I had lost 3 pounds since my last check up, so I was feeling rather proud of myself), I asked if he had any idea if a BRCA2 mutation was an issue. I’ll be honest; he did a google search in front of me. Then, he informed me that I had an 87% lifetime risk of having breast cancer. 87%, friends. Y’all, my boobs are trying to kill me, and I didn’t even know. He continued to tell me that the recommendation is to have a hysterectomy and oophorectomy by age 35 and a double mastectomy by 40. What the actual heck?
Now, I’m not the type to completely base my life on a Google search. So, I scheduled an appointment with my gynecologist- but remained relatively calm. I talked to Joe about it, and his initial response (and we’ve come along way since this time) was, “You can’t start cutting stuff of your body because you’re scared you might eventually get cancer.” To be honest, I agreed with his assessment of the situation at that point. Full disclosure: when I got the first problematic mammogram call back, Joe responded by vomiting, crying, and promptly melting down- in a public venue. Y’all, this has been an ORDEAL.
Jump ahead a few months, 2 genetic counseling visits, a high-risk coordinator visit, and a couple breast lump scares that turned out to be nothing, and I’m here. I have an over 80% chance of having breast cancer between the ages of 30 and 50. I have a greater than 50% chance of ovarian cancer- and an elevated pancreatic and melanoma cancer risk. I’m compiling numbers, so you might see higher and lower odds depending where you research. However, the point is, my body is just itching to make a tumor, because it has no idea how to NOT make tumors.
It’s been a scary few months- and the concerns have been so far outside of my normal realm of medical concerns that I haven’t felt equipped to process them. I haven’t told the CCL community, because I didn’t know where to begin. Now, as a new year is approaching, I feel empowered. While I had no idea when I entered this genetic study that I was going to get life changing information, I am grateful, because this information will inform my decisions (and my family’s- which is a whole different and serious blog) as I move forward. More importantly, I know to be vigilant about screenings and self-checks- things I had never considered prior to this information.
Why am I telling you all this? Because, I can’t stand for ‘peace, love, and health’ and keep major health secrets. Additionally, if you have a strong family history of cancer, I want to encourage you to have a genetic cancer panel. (I actually had a second panel completed in case the research study genetic test was flawed.) Waiting for results is torturous. The only thing worse is trying to understand and coordinate a plan once you have results. However, ultimately, knowledge is power.
I asked a patient leader group that I’m in what they do when they get a new diagnosis. I had literally no stinkin clue if I was supposed to be an advocate for EDS, POTS, chronic illness, invisible disabilities, and, oh yeah, BRCA mutations. I still don’t exactly know. However, if my story and my BRCA journey informs or inspires someone else- then I’m all in.

Peace, Love, and Health.

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Blooming Where I’m Planted

tiffatvandyDo you see that girl? That’s me- four years ago. (Do you see my awesome collection of stuffed animals? Yeah, my husband specializes in fluffy gift giving.) Four years ago, I participated in an inpatient research study at Vanderbilt University Medical Center (Clinical Research Center) during the 4th of July. I knew that I would never be well enough to participate in cook outs or fireworks, so I spent 11 days in the hospital doing experimental treatment for autonomic disorders. I was new to my POTS (Postural Orthostatic Tachycardia Syndrome) diagnosis and not yet diagnosed with EDS (Ehlers Danlos Syndrome). I was confused and angry. I had left my career as a middle/ high school Spanish teacher nine months prior to this picture. I had no clue who I was or where I was going. In my mind, I had lost my worth as a professional, wife, and friend. But, during the same hospital stay when this picture was taken, there was a faint bit of inspiration that flickered amidst my desperation. I have no idea where I got this phrase- but I’m not especially creative, so I probably read it or heard it on television. But, the phrase that echoed in my mind and heart was, “You have to bloom where you are planted.”

I, like so many others, did not choose to be planted in current circumstances. I did not study to become a sick person. I didn’t marry my husband with hopes of being his disabled wife. However, if we’re all being honest, there are few of us who have written our own way. Life has planted us in some less than ideal places, and we have to decide what to do with the situation. Don’t misinterpret what I’m saying. I’m not going to tell you that all you need to do is smile or have a good attitude. Not at all. There are days when life isn’t a greeting card. There are days when I cry and complain and whine and eat all the junk food. However, in spite of a difficult situation, I choose to bloom.

Yesterday marked four years since the first picture was taken. I can still remember the emotions and pain of that day. I can remember trying to force a smile for a picture- but feeling like the gifts I was posing with were little more than a sympathy offering- little more than flowers at a funeral. Yesterday, I took a new picture- at my first ever book signing. My symptoms hadn’t changed (Has anyone else blacked out when they heard a fire truck’s siren? That was new for me.), but my perspective had.

I’m not handling all this perfectly. I won’t ever be the great inspirational story of the person who overcomes adversity. However, I live my adversity; I accept it, but I also choose to laugh and smile and advocate in spite of it. I’m blooming exactly where I’m planted- even when I wish I could uproot and move to higher ground.

So, how did I get here? I didn’t wake up one day and decide I like chronic illness. I didn’t adopt my “Bloom where I’m planted” mantra and immediately become a blogger. Heck, I didn’t even start giving unforced smiles at that point. But, I started laughing. I started looking for the hilarity of my newfound life circumstances. I slowly changed my thinking from, “I can’t believe this is happening to me” to “You won’t believe what’s happening now!” Regaining my sense of humor and finding my voice, allowed me to bloom.

The past four years have been the most transformational of any I’ve experienced. I have hurt and endured more than I would have believed. However, I’ve become more understanding. I have increased my capacity to love. Ultimately, I’ve become a person I wanted to be- but that girl four years ago could have never believed possible.

I will never be grateful for illness. If I had the ability, I would heal us all in a heartbeat. However, I am grateful that my broken heartedness has healed. I am blooming. It’s not always pretty. (Heck, I’m probably more of a weed or a wildflower than a beautiful, manicured rose.) I am proud of the growth of the past four years, and I look forward to continuing to bloom with all of you.

Peace, love, and health, friends.

Rare Disease in Small Town America

The shower head in mine and Joe’s bathroom won’t stop dripping. It’s incessant “drip, drip, drip” keeps Joe and I awake at night. I catch myself nodding my head in time with the drips. It has essentially become the metronome of our existence at home. We’ve tried everything to fix it. We turn the shower on and back off again. Sometimes that slows the dripping- other times it gets worse instead. We’ve cleaned the shower head and the on/off lever. Sometimes we push really hard on the nozzle in hopes that we’ll make the shower completely stop running water. It doesn’t work. Nothing works.

Now, some of you are saying, “Why don’t you change the shower head?” Well, that’s a fine idea, but it’s not exactly in mine and Joe’s skill set. You see, Joe and I have a variety of gifts and talents- none of which include plumbing. I mean, technically, Joe fixed our sump pump a couple months ago, but he used a couple dumb bells and duct tape to do so. I’m not sure that solitary experience makes him qualified to change out shower fixtures. I once fixed the toilet chain in a college dorm toilet (Seriously, Cumberland College, why was I fixing my own toilet?) with a paper clip, but again, that’s hardly professional experience. It has come to this- we need a real, licensed plumber. That comes with its own set of difficulties. It takes days of sitting around the house before a person actually shows up for non-emergency water problems. “Real, licensed plumbers” are way more expensive than mine and Joe’s pseudo- expertise. At this point, we have just accepted that the shower drips, and that’s a strange quirk of our home.

Why do I think you care about my plumbing woes? Well, I don’t suppose you do. However, the drippy shower has become my constant analogy for living life with a rare disease. My body has several medical “quirks.” The quirks are the background noise for every day. But, at this point, I don’t have the time, energy, or money to address the issues. Much like my dripping shower faucet, my aches and pains have become such a part of my existence that while I’m not happy with the situation, I’ve accepted them as part of life. My pain is not adequately managed, and I don’t always deal with it well.

However, small town medicine is about as effective with managing a rare disease as Joe and I are at handling our plumbing situation. I have great doctors, really. I am sure they are great with managing many common illnesses. I feel like if I were a typical patient and went to any of my medical team with strep throat or high cholesterol or any number of other common problems they could handle it beautifully. Let me be clear- my frustration is not directed toward local practitioners. My frustration lies in the fact that awareness is lacking, physician education is lacking, and I’m the one suffering. Unfortunately, when you’re a “zebra” in the medical community, your problems are anything but common. Even when my complaints are “common” there’s always a rare disease (and its complications) to take into account.

The people that are equipped to help me (you know, the ones who have actually heard of my illness?) are hours away. They’re in clinics with a two year waiting list. But, I’ve never really had a medical issue that I’ve thought, “Wow. This should probably be addressed 24 months from now.” That’s not how illness works either. It’s complicated. It really is. For my friends with complex medical issues, medical care is pretty much a gamble. We are begging to be heard (drip, drip, drip), but we are blending in with the masses.

I get it. I don’t expect that any doctor in small town America is an expert in any rare disease. I’m not blaming doctors for this discrepancy. I’m simply saying this life is difficult. My medical issues aren’t easily addressed, and I am tired of being turned away. My illness is a constant dripping that keeps me up at night- praying that at no point does the drip turn into a gush- and knowing that if it does, I’m poorly equipped to handle the fallout.

Peace, love, and health.