The Cost of Winning

Some of you may have noticed my poor blog attendance. I’ve been busy. I won the Lottery!

The genetic lottery- I am 1 of 36,000 with a Von-Hippel Lindau mutation. Oh how I wish that where $136,000. Or better yet $1,136,000. Instead my life expectancy just became 49.

This gives me seven more years to cram in all the living. One of my friends hates when I say this. I’m 42 in case you didn’t do the math. I suspect she simply doesn’t like to think about losing me. But it is the stark reality of VHL. Some die in their 20’s, some in their 80s. It is only through early detection that life expectancies are increased by 16 years. And though VHL expresses differently in each affected person even within the same family 97% of people with a VHL mutation will get a tumor by their 60s.

If you haven’t figured it out yet I have a dark sense of humor. My first thought was NOW my two five-year marriages don’t seem like blips (or the Mulligan and Penalty as my bosses affectionately call them). And my midlife crisis definitely came at 28 following my first divorce. It was then that I got onto my spiritual path and began to change my life. So it seems to fit the timeline perfectly. I find this oddly comforting.

Look, I know anyone of us can go at any time. We all know it at least intellectually. But when someone stamps your ass with an expiration date it ups the ante. Trust me like a friend said we become much less cavalier about life as we age. Because let’s be honest we are all dying a little bit every day.

When I first met the geneticist she asked if I was the kind of person that would worry if I was diagnosed with a disorder. Would I lose sleep, begin to hear every bump in the night inside my body as sign of imminent demise. If so she said don’t do it. Because then in essence they would be giving me a disease. I assured her I’m not that girl. I would simply be armed (knowledge is power they say) and make decisions accordingly.

I’ve already shared on numerous occasions the difficulty of the not knowing, of being stuck between floors. And so much following a cancer diagnosis is like that. Will it come back? How long do I have? What they hell do I want to do with the time I have left?

A friend asked if I felt vindicated.”  I have been fighting the medical community to pay attention to my problems for a long time. Three years ago I knew something was wrong. And the tests agreed. They started searching for a “Pheo”, Pheochromocytoma- adrenal gland tumor, but couldn’t find one. My kidney “bump” was written off as a normal kidney cyst. They began me on numerous medications to combat the elevated stress hormones in my body and high blood pressure. But never found the tumor they expected to find. So they decided it must be genetic.

What ensued where years spent in spurts-my feeling ill and chasing specialists and getting tests- Xrays, CTs, MRIs, ear and eye exams. They came up with mild vocal cord paralysis and SIBO both cause unknown. My symptoms ensued. I would periodically give up, tired of the search, tired of not having answers. Eventually my symptoms would rear up and propel me to pull my big girl pants back on and keep fighting.

Somewhere in the midst of this struggle I began to put pieces together. My cousin’s daughter had a Pheo at 10. I had vaguely remembered they were sent for genetic testing and found a rare genetic cause. So I called my cousin and found they both tested positive for VHL type 2C. It was assumed to be a de novo mutation, as in spontaneous occurrence. But this turns out not to be the case. Apparently my Uncle never tested and my cousin just thought he had. (So if my confirmed diagnosis does nothing it may just save a younger member of my family. Remember early detection is key in this race.)

But at the time my head was spinning. Armed with the idea that I had a genetic root cause responsible for my still unexplained symptoms I began to research VHL. Anything I could get my eyes on to read. But as I had no tumors, remember they didn’t think my kidney was worrisome at the time and it was my cousin who had it, not a parent, it did not warrant my getting tested.

It was only after my nephrectomy (kidney removed) and the diagnosis of Clear Cell Renal Cell Carcinoma (the leading cause of death in VHL carriers) that I became eligible for testing.  And I insisted I be tested.

Again, like with the kidney cancer, none of the doctors thought I had it. I do not by any means have a normal presentation. Though I’d argue “the twins” (my baseball sized fibroid tumors) in my 30s count. But even the geneticist, an expert with VHL, was doubtful. I was presenting symptoms so late in life. Most tumors show up in your teens and twenties. And granted 75 is the earliest anyone on the VHL side of my family has passed away. So we are anything but average in the world of VHL. So far I and my cousin’s daughter are the youngest to express this rare genetic disease.

Really in the scheme I’m lucky. As I see it I got two extra decades before the growths began, before the yearly scanning schedule, and the “Well what do you REALLY want your life to be about?” questions. So I guess my friend was right. It is a vindication of sorts, my intuition intact.

Someone once said “Worry does not empty tomorrow of its sorrow it empties today of its strengths”. A friend reminded me we are all dying. Every day we are progressing closer to death. Hell, any of us could go at any minute. I am just lucky enough to know it and can make adjustments accordingly. Of course it also means life insurance is now out of the question. You have to love friends that ask the practical questions.

I had once joked that I am so creative even my body wants in on the adventure hence all the growths. I decided that Kidney cancer was taking things too far. And this is slightly less funny then even that at the moment.

I’ve had a lot of surgeries for someone so young. I have a separate spreadsheet to provide doctors and spare my hand cramping or the ink running out when I complete new intake forms. Recently I came across a quote “wounds are reminders of lessons endured”. In high school I performed a monologue called Marked in which the main character was slashed in a parking lot late one night. It changed her. She began to get tattoos, marking her body with everything and everyone that left an impression on her soul. Over the years my surgery scars have become my marks. The reminders of lessons I endured.

VHL is another life. One full of lots of doctors’ appointments and routine testing like yearly brain and spine MRIs, Abdominal CTs, Eye exams just to name a few. Perhaps the geneticist was right and I am one of those worriers because I know there is a tumor. My body has been trying to communicate this for years now. They simply haven’t located it yet.

And if I’m truly honest I’ve hit one of those places where I want to quit. Take a break and walk away from it all. Climb into bed and pull the covers up. I’m tired. Unfortunately this time my need to give up coincides with the fact that I still don’t feel well. So it simply isn’t an option.

This means every day I make the calls to get into the specialists, to get tests scheduled and prioritize what ails me. And as a dear friend and cancer survivor reminded me this morning things are still good. You aren’t getting the red carpet treatment yet. That’s when you know the shit is really hitting the fan. I need to be glad for the waiting. I can dig deep. It’s time to let the Games Begin again.



I’ve been called one. I’ve felt like one. I assure you I am definitely not a hypochondriac.

There is an upside and a down side to being overly sensitive to what is going on inside your body. The upside- you’re are the squeaky wheel when it comes to getting care. And let’s be honest no one is more concerned with your care then you are. The downside-you are aware of every squeak and creak that goes on inside of you.

Weeks ago I shared my diagnosis of SIBO, which began a life altering transition. Completely changing my relationship to food and seriously slimming my figure, no marathons necessary. Not curable but manageable I was told. After the treatment for SIBO (weeks of antibiotics) was completed I expressed still not feeling right. I continued to have other unexplained symptoms. Ones I’d been complaining of for awhile. I KNEW something was wrong. So the doctor sent me in for an ultrasound to check for an aortic aneurysm. It was thankfully negative. But what resurfaced was my Kidney cyst-originally discovered 3 years prior on a CT of my adrenals.

So perhaps I should jump backwards. Three years ago I had been getting headaches with increasing frequency. Then one morning I suddenly got double vision. It did not subside for hours so I took myself to the doc. My blood pressure was through the roof- 180/100. She ran blood tests and a 24 hour urine test. If you haven’t done one of these you simply can’t appreciate the dread. I had abnormal results. So she sent me on my merry way to an Endocrinologist.

Tumor search began. The endo searched high and low for a pituitary tumor or an adrenal gland tumor. Either one of those could explain my extremely high Cortisol. During the head MRI, Abdominal CT and Ultrasound a cyst on my kidney was incidentally discovered. It was diagnosed as a simple cyst. e.g. written off and ignored as completely normal- 50% of people have them by the time they’re 50 and they do not evolve. They are harmless and benign. So without the presence of any tumors my hormone level was presumed genetic.

During the three years in between CTs of my abdomen I had more issues arise which led to a Neck CT, Chest X-ray, fluoroscope swallowing study and ultimately to a specialist for a scope. The final determination was mild vocal cord paralysis, cause unknown. They wanted me to go to vocal therapy. I decided to take voice lessons instead. Who wouldn’t?

So back to today…. they had rediscovered my cyst. But this time the diagnosis was a complex cyst- Bosniak Class III -possible renal cell neoplasm. Huh? How exactly does a simple Cyst suddenly become a lesion with 60% possibility of being cancer? Simply, it doesn’t. It was never a simple cyst to begin with. Ah! Great. Now I’m a little pissed.

My friend Jen told me when she was diagnosed with cancer it was like the wind was knocked out of her. Everything closed in like looking at the world through a tunnel. I don’t actually know if my lesion is cancerous. But when I got the call I was instantly nauseous, my heart was racing, I felt fear like I never before and I cried all the way home from work.

I could easily land within the benign 40%. The surgical urologist said if he had to lay odds in Vegas, he’d bet benign. So that is good right?

During the two week wait before my surgical consultation I searched the internet. I read everything I could get my eyes on; my mind began to pluck pieces out of my medical history and try to arrange them like a puzzle. I looked up the words on my tests to understand them. Yes I freaked out a little.

In fairness my cousin was diagnosed with Kidney cancer 3 years ago at 43. Sounds familiar. He underwent surgery and they got it all out. He still even has part of said kidney.

I also have a family history of Von Hippel Landau disease-a genetic mutation that prevents the body from blocking certain tumor growth. Just another reason this thing must come out. My cousin with VHL has always been asymptomatic unlike her daughter. Genetically this gene trait tracks back to her father i.e. my mother’s brother, my uncle. So it is possible I have the mutation as well. And renal cell carcinoma is one of the malignant developments from VHL and one of the leading causes of death in VHL patients. If my mother is a carrier then the odds that I am VHL positive are 50/50- a big unknown without testing. So I called the national VHL organization who pointed me to a clinical care center at UW hospital that does the genetic testing for VHL. And since I don’t know what it will cost (BRCA testing produced a $6000 price tag I couldn’t entertain) I plan to wait to explore it further.

A quick side rant. This morning I saw on the news that the FDA is blocking the sale of the 23andme genetic kits. They cite that the accuracy of the results can not be confirmed. And worry that women will undergo unnecessary medical procedures based on false results. They are concerned with the marketing approach and the fact that the company sidesteps health professionals. And we wouldn’t want that right? I suspect big pharmaceuticals aren’t happy competing  with a  $99 price tag and are applying pressure. But that’s the conspiracy theorist in me. Remember the aforementioned $6000 BRCA price tag. Let’s see if my insurance and medical can bring the test cost down to $99. Because I could use a cost effective test for VHL and BRCA. And I don’t know about the rest of you, but if I took the test through 23andme and was BRCA positive I’d get a second opinion before undergoing a preventative double mastectomy. Information is power and should be readily available. Admittedly I’m highly biased as in my case it could be a matter of life and death.

Okay back to my very real issue at hand. Surgery was the Urologist’s recommendation. Yes, please take this thing out!  I underwent another round of testing, MRI, Chest X-ray, and meeting a new Endocrinologist. Due to my cortisol they have to coordinate on how best to treat me during the procedure so my BP doesn’t jump into heart attack zone.  And because of the tricky location of my little lump they can’t go in minimally invasive. They need to open me up in order to have the best chance of saving as much of my kidney as possible. Which is fine with me, I’m a little attached to it.

And on top of all this my gynecologist ordered a biopsy of my pesky breast lump. It’s been hanging around for years, palpable but invisible to scans. But apparently it’s time for it to come out as well. How many other shoes is that?

So what does all this mean? I really wish I had access to low cost genetic testing and I’ll be gone from the blog for most of December.