Rare Disease Day 2011

The National Organization for Rare Disorders (NORD) is doing its best to bring  attention to the 30 million Americans that have a rare disease.  Even the U.S. Senate did their part by passing a resolution declaring Feb. 28, 2011 as “Rare Disease Day.” The purpose of Rare Disease Day is to harness the creative energy of the millions of people around the world with rare diseases — as well as that of all the people who care about and assist them — to help others understand certain fundamental issues that need to be addressed.  Here are some of the ways you can help.

In the U.S., any disease affecting fewer than 200,000 Americans is considered rare.  Only about 200 of the known 6,800 rare diseases have treatments.  Many patients are treated “off-label,” with products not developed specifically for their disease.  Increasingly, in today’s economic climate, insurers refuse to pay for off-label treatments.

Speaking as a person with two rare disorders/diseases,  an arteriovenous malformation (AVM, a cerebral vascular abnormality) and appendiceal adeoncarcinoma (a very rare cancer), I am thrilled that attention is being brought to our little crowd.  Only 500 – 1000 people/yr. are diagnosed with some form of appendix cancer.

I have been so fortunate to have found expert doctors to address both of my conditions.  The AVM is an ongoing condition that requires monitoring as it cannot be surgically removed since it sits in a critical part of my brain.

Appendiceal adenocarcinoma (non-mucinous type) is a very rare aggressive cancer that needed immediate attention upon my diagnosis in February, 2010.  In my hometown, no one knew exactly how to treat this rare cancer since there is no protocol or drugs specific to appendiceal adenocarcinoma.  Even diagnosis is difficult and patients are too frequently misdiagnosed, wasting precious time and the possibility of  recovery.  Very limited research has been conducted since most of the research has to be privately funded and funds are scarce.  Fortunately, I found an excellent team of doctors at M.D. Anderson Cancer Center in Houston, TX who have seen many of the few cases of appendiceal adenocarcinoma that are diagnosed each year.   Dr. Paul Mansfield, Dr. Michael Overman and the rest of the MDACC team put a treatment plan in place that has steered me to the place where I am today. Disease-free. I am VERY fortunate.

Good news: This past week I completed my 4th post-surgery chemo treatment.  Only two more to go!

Swing

Bad news: I’ve developed a new side-effect that cuts into my dancing schedule.  After my last treatment, I mentioned that my feet were killing me. I thought it was just my peripheral neuropathy being aggravated by more chemo.  As my 3-day chemo week progressed, my hands became very red and tender and the bottoms of my feet looked like they were sunburned and slightly swollen. Hands and feet were painful.  By the end of the week, I was hobbling around.

I remembered reading something about hand-foot syndrome (HFS) as a side effect of the 5-FU chemo that has been a major component of my chemo protocol all these months.  When I went in for this week’s chemo, my local oncologist confirmed that this is what I’m experiencing.  HFS is separate from neuropathy which I still have full-force.  HFS is just layered on top.

What is hand-foot syndrome?

It is a skin reaction that shows up on the palms of the hands and the soles of the feet in response to certain chemo drugs. In my case, the 5-FU component of my chemo protocol. It can start as tingling or numbness which progresses to swelling, redness, tenderness or pain.  If it isn’t addressed quickly, the feet and hands can blister, peel and possibly become infected.   Nice.  Apparently, HFS can develop just a few weeks into treatment, or in my case, after being treated for months.

What causes HFS?

The most widely accepted theory is that the small blood vessels in the palms and soles break due to use, pressure, increased temperature or friction.  This lets small amounts of the chemo to leak into the surrounding tissue and causes an inflammatory reaction.

How do you get relief from the symptoms of HFS?

I’m supposed to modify my activities of daily living so that pressure, heat and friction are reduced in my hands and feet.

But more importantly, cutting the dose of chemo helps.  So this past week’s chemo dosage was reduced.  I still have the symptoms but, as of now, they are about the same as last week.   I’m just trying to stay off my feet for the most part and minimize the amount of pressure I use with my hands. We’ll see how things go as the week progresses and the chemo does its thing.

No dancing or clapping for me.  I guess The Broken Spoke will just have to wait!

For those of you keeping track at home, you might remember that I completed 23 weeks of chemo last year with a two-month “holiday” break for surgery and recovery in November and December. Then in January, my chemo regimen was extended for another six treatments over 3 months which makes a total of 29 chemo treatments by the time I’m done.

I’m proud to announce that this past week I completed the third of the additional six treatments. Only three more to go, every other week. (This coming Tuesday, I start the fourth). The finish line  is Thursday, March 24, 2011.

These six additional treatments are considered “adjuvant” therapy. This refers to treatment usually given after surgery where all detectable disease has been removed but where there remains a statistical risk of relapse. Last year’s 23 weeks of chemo was considered “neoadjuvant,” or the chemo given prior to the main treatment for the disease. In my case, the main treatment was my big surgery on Nov. 30th to remove the tumor and any other cancer spots.

My current chemo, FOLFOX chemo without the OX (oxaliplatin), is much milder. With the oxaliplatin gone, it’s just the 5-FU (a chemo drug – fluoruracil) and leucovorin (a vitamin complex – folinic acid) now. Hey, would that be conisdered FOLF__? But these two need each other to effectively kill any cancer cells.

Here’s one way of explaining it: A unit of 5-FU is like a grenade. When the grenade strikes its target (the cancer cell), it explodes and shrapnel goes flying. The grenade already did its damage but the target may or may not be dead. Leucovorin is like a magic wind that scoops up the shrapnel from the ground, whirls it around, and smacks the target with it a second time. It’s basically a second attack that uses the leftovers from the first attack. Nice, warm analogy, but then beating cancer is referred to as a “fight.”

Physically, I’m getting along fairly well. These six extra chemo treatments are given every other week. The chemo week is a little rough but then I get rolling around the middle of the next week so I have one completely good week before I go back for chemo again. My biggest complaint is the aggravated neuropathy. My hands and feet are killing me. The only shoes that are comfortable are Danskos worn with thick socks. I love wearing them but they aren’t exactly fashionable or safe, in my case. I tend to fall off of the platform soles once in a while. Ha.

Mentally, it’s been tougher than ever before which makes no sense. Before my surgery, I had nothing to lose and had everything to gain so focusing like a mad woman on beating this disease was all I could do. Now that “there is no evidence of disease,” I feel as if, potentially, I have everything to lose at my next scan. Not exactly positive thinking but these are real thoughts as I navigate through this mess. Glass half-empty analogies do not work here. This is uncharted territory for me.

But I know that I will pull through this weird time. As someone suggested to me the other day, “Imagine someone gives you a handful of rocks and asks you to hold them for a while. Instead of dumping them immediately because they are so heavy, go ahead and examine them. Feel their contours, examine the various shapes, look at their colors, feel their weight. Then, when you have finished examining them and are ready, you can put them down and move on.” A simple analogy for processing overwhelming emotions instead of denying them.

My next set of tests and CT scans are scheduled for April 17 and 18 at M.D. Anderson. These scans will be the first ones that we can compare to my new baseline CT scans taken in January. Hopefully, the upcoming scans will be VERY boring. I think boring is well-deserved.

My one-year “cancerversary” was this past Saturday, February 5, 2011.  A cancerversary is the day that your life as you knew it ends, and a new life begins. Because no matter what the outcome, life is never the same after a cancer diagnosis.

I forgot all about it.  I didn’t intend to forget but it’s not exactly a celebratory day anyway.  More like “I can’t believe I made it through this past year” day.  A laugh, cry, freak-out, whatever day.

That day, we took the kids to the very cool Mock Surgery Day at University Medical Center Brackenridge, which had a dozen stations set up with hospital staff and mannequins.  Using actual medical equipment (and some candy as a proxy for body parts), the kids got to perfect their techniques in laparascopic surgery, heart surgery, brain surgery, spine surgery, learn CPR and how to use an AED. “Bad Luck Larry,” the poor guy in the trauma unit with the red paint and busted leg, was a big hit.  Not a bad way to spend a cancerversary that I didn’t remember.

Earlier this year, I was debating which day should be considered my cancerversary.  The day I had the pain in my lower right pelvis after a walk?  Or the day the doctor showed me the 6.5 cm mass on an ultrasound and CT scan? Or the day the doctor confirmed the cancer after my first surgery?

I decided my cancerversary was going to be February 5th – the day I first saw the mass on the ultrasound and CT scan.   That was the day everything came to a standstill and I faced the prospect that I might have cancer.  My first surgery 10 days later simply confirmed the malignancy.

But on the flip-side, this date also matters because it’s a measuring stick for being on the planet another year.  I’m so grateful that I am still here and relatively healthy because a year ago things were not looking too good. But yet, here I am, a one-year cancer survivor. Wow.

It’s also a marker in time when I began to understand the true meaning of friendship in ACTION.  I’m talking about YOU – all the friends and family who have helped us out with meals and errands, who offered words of encouragement or who have been there just to listen this past year.   Thanks to my family for sticking with me on my cranky days.  Thank you, thank you.

We can only be said to be alive in those moments when our hearts are conscious of our treasures.                                                                  – Thornton Wilder

I feel very much alive.  Anyone for a piece of chocolate cake?