Friday, December 14, 2012

MPNs Gain Attention of Hematologists

In case you haven't heard, hundreds and hundreds of hematologists gathered in Atlanta, Georgia for the 2012 ASH (American Society of Hematology) conference this past week.

Until I was diagnosed with Polycythemia Vera, I had no inkling how complicated our blood is.  I also didn't realize how much 'we' (including the medical and scientific communities) don't know about about blood functions at the protein and molecular levels. 

It's a beautiful thing when blood functions properly.  But when it doesn't, well, it turns a person into a patient. 

Fortunately, we've got some very inquisitive, intelligent people studying many aspects of MPNs.  This year's conference featured several presentations on new learnings about Myeloproliferative Neoplasms (MPNs) -- from PV phenotypes to drugs that impact the disease processes and side effects like anemia.  

Here are a few helpful summaries of the MPN highlights from the conference.  The videos features Dr. Ruben Mesa of the Mayo Clinic, Scottsdale, Arizona.

Dr. Ruben Mesa summarizes MPN updates from ASH conference  
(updates on Polycythemia Vera and Ruxolitinib in Myelofibrosis patients)

In the next video, Dr. Mesa discusses the molecular abnormalities of MPNs (especially those with Polycythemia Vera):

Genetic Profiling Shows Promise for Customized Treatments

I want to learn more about this, as each fellow PV-er I meet seems to have a unique experience.  Varied severity of symptoms, responses to treatments, and outside factors make living with MPNs all the more frustrating.  Human beings want certainty, predictability, and a sense of control.  

It seems we are in the midst of the MPN learning curve.  At this point in human history, we can be grateful for the forward momentum of knowledge in this relatively obscure area of blood science.

Check out the ASH website.

Saturday, December 01, 2012

Let's Play Medical Pinball!

Apparently, I'm a slow learner.  I believe that when things/people/events show up in one's life they present opportunities for introspection, learning and growth.  Sometimes it's to practice patience, listen better, explore other perspectives, remember to be grateful. 

The latest "opportunity" in my life is arthritis and chronic pain.  I've been dealing with increasingly frequent and more painful swelling in my hands and feet and arthritis in all my joints since April of this year.  (I posted pictures on an earlier post).  Some days I cannot get out of bed without assistance.  Seven months is a long time to live like the rusty Tin Man from Oz.

Not My Department
At first, the doctors put me back on prednisone (despite my previous horrible experience with it) because it is considered the "gold standard" for dealing with inflammation.  It helped for awhile, but never completely knocked out the inflammation and pain.  By August, the side effects of the prednisone outweighed any benefit.   Tests for Rheumatoid Arthritis and Lupus came back negative.  Whew!

All the while, my rheumatologist who treats me for Behcet's Disease was sympathetic to my plight but didn't have any answers.  This would be an extremely rare side effect of the Remicade treatments, so he ruled that out.  His hunch is that it is caused by the Polycythemia Vera disease process.  He prescribed Colchicine (now called Colcrys) and I've been taking it for two months with no relief.

My hematologist/oncologist believes it is rheumatological and not caused by the PV.
My internist said that because I am a "complicated case with two rare diseases."  The inflammation could be a result of one of the disease processes, a side effect of the Remicade infusions I get every 6 weeks, or something altogether new.  

Still Haven't Won this Game!
Living the Life of a Pinball
This fall, we "kicked it up a notch" and sought specialists at Emory University Hospital.
I've been wanting to change my treatment for Polycythemia Vera from Hydrea to Pegylated Interferon because my blood counts are difficult to manage, even with higher dosage of the Hydrea.

There is a non-randomized clinical trial through Emory that I might be able to join.  It appeals to me because the study will document the effects of peg-interferon on PV patients.  I find comfort in the notion that this illness has meaning if it contributes to greater knowledge for future patients.

Dr. Winton, the trial manager at Emory, requested I consult with their rheumatologist who is experienced treating Behcet's patients.  That doctor viewed my parts that were swollen at the time of the visit as well as photos I've kept of previous flares.  He concurred with my Kaiser rheumatologist that the inflammation process was not related to Behcet's, Remicade, or any other rheumatological disorder.   

With the mystery inflammation acting up, Dr. Winton is reluctant to have me start taking interferon.  Interferon can have many undesirable side effects;  it can trigger auto-immune responses.  I don't need gasoline on the fire!

Ask the Experts:  Fellow Patients
Accessing the wisdom of my extended, international PV family, I shared pictures and queried whether anyone else has these issues.  Turns out, it's rare, but YES.  I was directed to explore Erythromelalgia (EM), another rare disease.  Some PV patients develop symptoms best described as EM.  It turns out that EM manifests in several shapes and forms.  It is a clinical diagnosis (the only test is for patients who have a genetic pre-disposition -- generally younger onset).  There are no tests for folks like me who may have "secondary EM." 

So, back to my doctors I go, armed with this new information.  "Not likely" is the response I get from all but my internist.    Still, I try a few of the treatments that work for some EM patients.  I've tried taking antihistamines (both H-1 and H-2 inhibitors), plain old aspirin, and colcrys.  All to no avail.

My Next Experiment: 
I am going to hold off on Remicade infusions (the next one is scheduled 3.5 weeks from now) and see if the inflammation resolves when the Remicade leaves my system.
Why shouldn't a very rare side effect occur in someone who appears to specialize in "rare" conditions?   Know I've got to keep fingers crossed that Behcet's stays away when the Remicade wears off.  There aren't many other treatment options available to me.

Let's Try Another Approach:  Acupuncture
Two weeks ago, I began seeing an acupuncturist (professionally, of course -- Robert approves!).  She determined that the primary cause of this painful inflammation is too much "heat" in my system.  My blood, in particular, carries too much heat; likely due to the toxins in my system.  

Toxins... really?  You mean all those chemo pills, warfarin, and host of other meds can be toxic?

She explained that the acupuncture process will take awhile for meaningful results because it is working against all the medications I put in my body every day.  [Note:  she is not encouraging me to leave Western medicine, nor claiming to have the cure for the PV or Behcet's]

Judge these non-retouched images at your own risk!  I'm pretty cranky these days. ;)

The needles don't hurt a bit!

Frustration Galore
The frustration has become overwhelming.  It conjures up a slew of non-productive questions in my mind:

How come so many intelligent, highly-trained doctors cannot determine the cause, or at least identify some treatment options for the inflammation?
Sometimes it feels like they can't wait for my office visit to time out.  It can't be easy for them to have no answers.

How much worse would it be if the physical symptoms of the pain could not be visibly observed?  
Even I think I'm making this crap up sometimes!

How many days of intense pain can a person reasonably endure?
The pain can consume one's thoughts and make it difficult to think of, let alone tackle, everyday life.  I'm taking low doses of Lortab (hydrocodone & tylenol) and have resisted stronger pain meds for fear of addiction.  Some patients are really struggling with this issue, on top of everything else.  

How much are these illnesses harming my wonderful kids and hubby?
Moms are supposed to protect their children, be strong, and set good examples for their kids.  "What's for dinner?" is a reasonable question;  it shouldn't be answered with "I don't know ~ go fix yourself something."

What would happen if I stopped taking all medications and let my body de-tox?
Not sure if my body could de-tox before the blood thickens, new clots form, strokes occur, and Behcet's sores take off again.

What the heck am I supposed to learn from all this?
Now this question prompts me to find the humor in this.
Stay tuned for the next post!

Thursday, November 15, 2012

URL Pharma Price-Gouging of Colcrys Is a Pain in the Foot

When I had my first gout attacks as a result of my Polycythemia Vera, the doctor prescribed colchicine to provide relief.  Colchicine is a generic drug that is 1,500 years old (it comes from the seeds of the autumn crocus) and was used by the ancient Egyptians and others to reduce inflammation and other pains.   

In 2010, my $10 prescription co-pay priced the pills at $0.16 each.

Last month, my rheumatologist prescribed colchicine again -- this time for extremely painful and inflammed joints and tissue inflammation (erythromelalgia).  

Bring back the colchicine!
I went to pick up the medicine and the pharmacy tech asked, "Are you sure you want this Colcrys?  It's $328.75."

"What?  I want the generic version, colchicine.  I don't need the name brand version." was my reply.
She went back to the pharmacist to ask about this.

How could a single pill go from costing $0.16 to $5.48?   What the heck?  

Here's what I learned:

In 1962, the FDA began a drug testing and approval process to make sure that new medications on the market are safe, effective, and accompanied with helpful information for physicians, pharmacists, and patients.  

In 2006, the FDA began the "Unapproved Drug Initiative" to get old medicines that have not gone through the FDA approval process off the market.  These old drugs were about 2% of the prescriptions written at that time.  The intent is good:  protect us from bad drugs and potential dangerous side effects and interactions of medications. 

It turns out that in 2009, URL Pharma agreed to take Colchicine through the FDA's review and approval process.  In return, it gets three (3) years of exclusive rights to sell the Colcrys for gout and seven (7) years to sell for Familial Mediterranean Fever (through the Orphan Drug Act).  

It also can price it however it chooses.  The FDA does not regulate pricing of drugs.
But how much is too much???   
I believe increasing the price by 34 times higher is beyond greedy... it is downright cruel to people who are ill and in significant pain.

So here's the practical rub:  

The study with 1,000 patients conducted by URL Pharma met FDA requirements, and it did not provide any new insights about the drug, contraindications, or interactions that were previously unknown to the medical community.

We are no safer today with colchicine (aka Colcrys) than before URL Pharma came along.  What was a generic drug (and quite affordable) has become a brand-name drug owned and sold in a monopolistic, predatory manner.

A rheumatologist told me that in a few years, it will go back to the $0.16 per pill.

I double-checked with my rheumatologist about this medicine, given my sticker shock.  
We decided that I would bite the bullet and get the colcrys.

Today, I went for my refill and learned that the price dropped a whopping $4.00 for 60 pills.  So this month, each pill costs me $5.41.  That's still predatory pricing in my book.

This drug that costs $5.41 per pill used to cost me $0.16 per pill.
The pharmacy tech that dispensed the Colcrys to me said, "Wow!  I couldn't afford to take this medicine if I had to.  You're lucky you can afford it."

I asked him if he sees a lot of patients who leave prescriptions at the counter because they are too expensive.  "Several times a day," he replied.  "Some people ask for a week's worth of a prescription because that's all they can afford this week or this month."  

His words really hit home... I am indeed lucky.  

I am married to a wonderful guy who has a great job with excellent health insurance coverage.  I have not been able to work in a meaningful way since struck by illness and that has taken a huge toll on me mentally and emotionally.  (We miss the earnings in our household budget, too).

If dear hubby lost his job and health insurance, I would be among the millions of "Un-insurables" with serious pre-existing conditions. 

The State of Georgia defers to the federal government's High Risk Insurance Program for people like me.  To qualify for the federal program, I would have to be uninsured for 6 months.  I'm pretty sure we wouldn't be able to afford 6 months of specialist visits and all my medications (we'd likely make too much money to qualify for patient assistance programs).  I would likely experience thromboses again and maybe a stroke out before I could access the medications again.

It's no wonder that medical bills are the #1 cause of personal bankruptcies in the United States.  People will do anything they can to ease the pain of their loved ones.

My parents taught us this maxim:  Just because you can, doesn't mean you should. 

This concept applies to many aspects of life, including price gouging.  

Imagine a world where people, corporations, organizations, and governments adhered to this!

Wednesday, November 14, 2012

Feeling Hot, Hot, Hot

Just when I think I'm managing my "new normal" something unexpected and significant interrupts my well-being.  My hubby asks, "when are the locusts arriving?"

This past spring, my toes, feet, fingers, and hands began to behave in a most unusual way:  they would turn red, swell up, and itch like crazy.  It starts with a tingle, then the tissue would rise before my eyes.  Remember those pieces of cardboard that turn into sponges when dipped in water?  

The first couple of months, the swelling would occur in one limb for a couple of days and then disappear, only to "re-emerge" in another extremity.  It was unpredictable and painful.

I was put back on prednisone because it's considered "the gold standard" for inflammation.  I was in so much pain that I agreed to take it despite my previous experience (a full-year of me becoming an irritable, annoying, and extremely overweight insomniac).  I was desperate!  
I tried it for 3 months;  at first it seemed to reduce the swelling, but after a couple of months it made no difference. We had to try something else.

I share these pics with the following disclaimers:  Yes, I know that I need a pedicure.  Yes, my feet could easily make Time magazine's "Ugliest feet in America" award.    

The foot tissue swells, itches & burns.

See the difference between the swollen right foot & the unaffected left foot?

Side view of both feet.

The inflammation seems to bounce around from foot to hand to foot to arm.  When my feet are inflamed, walking is extremely painful.  

Now, take a look at these ever-attractive hands:

Ring finger swells into hand.
Top of hand swollen, but not red.  Weird!

Hand & fingers so swollen I can't hold anything.

Right hand swollen & thumb burning red.

Right hand & joints swollen and sore.

When both hands are inflamed, major ouch!

In addition to the tissue inflammation, the joints became involved.  When the joints in my hands, knees, and feet are involved, my mobility is severely limited.  

Thus began a six month journey to find out what the heck is going on and what can be done to make it stop.  

I was tested for Rheumatoid Arthritis (because the inflammation had a symmetrical pattern on the extremities) and that came back negative.  Gout was also ruled out.

My rheumatologist confirmed that these symptoms are not at all related to the Behcet's Disease (auto-immune).  My Behcet's symptoms are well-managed with regular infusions of Remicade.  I also learned from others living with Behcet's that this is not one of their experiences.  

Through the great world wide web of support groups for people living with Polycythemia Vera and other MPNs, I was encouraged to pursue a line of questioning for Erythromelalgia (EM).   I brought the information (and photos) to my internist for consideration.  His research confirmed that these symptoms can occur as a result of the PV.  

The Erythromelalgia Association ( provided some helpful information and links to other resources, including EM patient groups.  Once again, here's  a rare, odd chronic health condition that has no clear treatment.  What works for some doesn't work for others.  They confirmed that the trial and error path I'm on is par for the course.  

At the doc's suggestion, I apply lidocaine patches to the areas at the earliest sign of inflammation.  This helps to mitigate a full-blown inflammation for the area covered, but sometimes the swelling occurs above or below the patch.  I've also been taking antihistamines (both H1 and H2 blockers) and Colcrys (the now-expensive colchicine, an anti-inflammatory med) all to no avail.

After five weeks of continual swelling of hands, knees, and feet, I was ready to jump.

One day when my hands were swollen, I drove past a Chinese foot massage shop and decided to check it out.  Foot reflexology can be relaxing at worst, and curative at best.  Using my smart phone, I checked out the reviews of the foot massage place.  I decided to give it a try.

I must say, after the one-hour reflexology massage, I was relaxed and in less pain.  I went back the next day for more.  It didn't cure, but it does feel good!

When I showed these photos to my niece who is a chiropractor and acupuncturist in California, she said that they are signs that I have too much heat in my system.  I decided to find an acupuncturist in my area who could help me with this. 

I had my first appointments last week with Leena Sikand-Cook of Healthy Body and Soul clinic in Lawrenceville.  Leena explained that Chinese medicine is about keeping the body in balance.  She read my pulses and indicated that my blood has too much heat.  

Here are a couple of pics my friend took of me during my second appointment.

Please ignore all my chins!

These needles don't hurt a bit - really!

She also pricked the tips of my fingers and toes to get a few drops of blood to escape.  I'm going to give this some time to see if it will provide some relief.
Stay tuned...

Thursday, September 13, 2012

What Happened to the Little Engine That Could?

Invisible Illness Awareness Week
September 10-16, 2012

Kind. Empathetic. Nurturing. Positive. Funny.  These are some adjectives that describe me.   I've always championed causes of the underdog and I have the resume and references to prove it.  Yet I am embarrassed to admit that until I became ill with Polycythemia Vera, I was not attuned to the suffering of millions of people who live their lives with no obvious outward sign of the pain and uncertainty they manage every day.  

My parents raised me with a strong feminist work ethic:  I had the same potential for achievement as my brothers.  I believed that if I tried hard enough, I could achieve most anything.  Persistence, stubbornness, and a bit of naiveté had served me well over the years, thus reinforcing those beliefs.  The power of my will and effort could overcome all obstacles.  That was my truth.  Until October 14, 2007.

Mid-Life's School of Hard Knocks has given me a new perspective.  I'm coming up on 5 years of a second chance at life.  Living these years has humbled me, frightened me, angered me, and depressed me.  I've been afraid to accept my 'new normal' for fear that it is akin to giving in to the diseases.  I don't want to be a victim so I try to deny what is happening in my body.  Yet the blood work doesn't lie.  The symptoms persist.  The side effects of the treatments are better than the diseases untreated.  I believe that if I keep digging into research and brainstorming the 'right' questions, cures will be found and I can get my wonderful life back.

I now assume that everyone has something that is a hidden personal challenge.  From this assumption, I try to enter interactions with a little more compassion.  I call upon patience when encountering someone may be a bit rude or disagreeable.  I don't condone rudeness, of course, but I also don't let it ruin my day.  After all, I know what prednisone did to me for one year!

I know that it is possible to be functionally 'normal' while masking chronic illness.  I know how exhilarating yet exhausting it is to be 'on' for work and family.  And I know that I still have a lot to learn about the effects of invisible illness on the patient, care givers, family, friends, employers, and community.  

The Invisible Illness Week organizers challenged us to answer the following meme.  Please share your reaction to this.


1. The invisible illness I live with is:  Polycythemia Vera, Behcet's Disease, and Migraines
2. I was diagnosed with it in the year:  PV in 2009;  Behcet's in 2010; Migraines 1983
3. But I had symptoms since:  PV since 2006; Behcet's since 2009; Migraines since 1981
4. The biggest adjustment I’ve had to make is: finding peace with limited energy and the inability to work regularly.
5. Most people assume: that I am healthy and fine because I have a happy, positive personality.
6. The hardest part about mornings are: waking up and moving through the aches and pains.
7. My favorite medical TV show is:  House
8. A gadget I couldn’t live without is: my iPhone
9. The hardest part about nights are: chronic insomnia
10. Each day I take 14 pills & vitamins. (No comments, please)
11. Regarding alternative treatments I: am open to them, but cautious of drug interactions.
12. If I had to choose between an invisible illness or visible I would choose: the invisible because I can "pass" as normal and not attract unwanted attention.
13. Regarding working and career:  I desperately miss my career and earning potential.
14. People would be surprised to know:  that I have withdrawn from many community and social functions because I don't like answering the questions, "are you well yet?" and "what are you doing these days?"
15. The hardest thing to accept about my new reality has been: feeling vulnerable and powerless about my future since there are no cures
16. Something I never thought I could do with my illness that I did was:  travel to Europe with my family
17. The commercials about my illness: do not exist because PV and Behcet's are so rare.
18. Something I really miss doing since I was diagnosed is:  being a consistent, vibrant part of my community
19. It was really hard to have to give up:  wine with dinner
20. A new hobby I have taken up since my diagnosis is: knitting (learned from YouTube videos)
21. If I could have one day of feeling normal again I would:  tour wine country and have lots of great sex with my husband
22. My illness has taught me:  that we take good health for granted.  Science and medicine have not kept pace with all the things that can go wrong in the human body.
23. Want to know a secret? One thing people say that gets under my skin is:  "You don't look sick" and "It's God's plan"
24. But I love it when people:  ask honest questions about the illnesses and listen
25. My favorite motto, scripture, quote that gets me through tough times is:  It could always be worse!
26. When someone is diagnosed I’d like to tell them:  It is scary as hell in the beginning; don't believe everything you read on the internet; there is a wonderful support community on-line  ready to welcome you to this special "club"; it gets better.
27. Something that has surprised me about living with an illness is: how many people are living with invisible illnesses
28. The nicest thing someone did for me when I wasn’t feeling well was:  two gal pals came to my house when I couldn't travel with my family.  We talked (they did most of the talking) and laughed and I momentarily forgot the pain.  They treated me as a full friend, not a fragile sick being.
29. I’m involved with Invisible Illness Week because:  I can use my voice to share my experience to dispel some myths, educate the currently healthy, and offer support and hope to others living with chronic, invisible illnesses.
30. The fact that you read this list makes me feel:  validated and grateful that you are curious to learn.

[Since September is also Blood Cancer Awareness month, I encourage you to learn about the Myeloproliferative Neoplasms family.  I have Polycythemia Vera, a MPN.  My bone marrow over-produces red blood cells (and sometimes platelets), causing thick blood and dangerous thromboses.]   MPN Research Foundation

Monday, May 28, 2012

When Mom's Chemo Brain meets Teenage Brain

May should be named National Stress Month.  
For adults who live with chronic illness AND have school-age kids in the house, it becomes crazy time.
Your calendar is not your own.  Every note or email from the school contains an important deadline or event that must be tended to immediately.  The best laid plans can be turned upside down with one announcement.

My dear kids (ages 17 and 16)  are in high school, so May is the time for AP exams, End of Course Tests, final exams, and final projects.  There are also sports tournaments, awards banquets, honors night, musical production, and final meetings of various school clubs.  Thank you's for all their teachers and coaches all must be purchased and readied for the last day of school.  

Granted, my kids did all the heavy-lifting.  They are bright, talented young people and put in the effort to achieve their successes.  They know that they are responsible for learning about all their deadlines and managing their time appropriately.   Even with periodic reminders, tasks are forgotten until the last minute.  Then panic sets in.  It is predictable.  I shouldn't be surprised.  I shouldn't take it personally.  They have teenage brains.

What Exactly is a "Teenage Brain"?   
Recent neuroscience research shows that the human brain undergoes a massive overhaul between the ages of 12 and 25 years.  It's like a massive re-wiring and new network made up of axons and dendrites and neurons.  The connectivity and insulation improves, enabling the brain to process information quicker, recall old information, and influence the decision-making process.

At the same time, the brain matures first in the back part of the brain (responsible for basic functions like movement, vision, basic processing) then to the top and front regions (which handle more complicated functions like memory, decision making, planning, and creativity).    All these changes make for an awkward time for teens and the adults who love them.  Teens have their moments of mature reasoning coupled with impulses, self-interest, emotional outbursts, and attraction to risky behaviors.

Teenage brains are also most susceptible to brain chemicals like dopamine (a neurotransmitter that helps in learning patterns and making decisions) and oxytocin (which makes social connections more rewarding).   The teens/twenty-somethings can assess risks as well as adults.  Yet they often value the perceived rewards higher than do adults.  

Who are you and what have you done with my sweet child?
What the heck were you thinking?
What do you mean you don't remember?

When the teen answers, "I don't know," she speaks her truth.
That's when I have to take a deep breath.

What is Chemo Brain?
Patients will likely give you a different answer than many physicians.  Because it hasn't been extensively studied, some doctors are reluctant to give the phenomena much credence.

Persons who are undergoing certain chemo therapies for cancers, seizures, or migraines may experience memory lapses of routine items; difficulty recalling names, places, or dates;  difficulty in concentrating on a task or conversation;  difficulty in multi-tasking;  becoming easily distracted.

We typically realize something is wrong before others around us notice, and we try to compensate in various ways.  For example, I made sure EVERYTHING was put on my calendar on my computer and phone.  The problem was that I would forget to check the calendar every night to plan for the next day.  I missed appointments simply because I didn't look at my calendar.   I went to the pharmacy to pick up medicine that I had picked up the day before.  This is completely frustrating and demoralizing.

My dear kids know that mom's brain doesn't function as well as it used to (beyond the usual 'getting older' forgetfulness).  Whether my forgetfulness, distractedness, and inability to multi-task are due to the chronic illnesses or the medications, it doesn't really matter.  I need the medications to remain as healthy as possible.  Some days or weeks I have much more clarity of thought and function than others;  I feel much more like my true self.  But when the subtle changes occur and I forget important things, we call it "Foggy Brain" or "Chemo Brain."   That's their cue.

When Teenage Brain meets Chemo Brain, the stress level rises.
The teens know if they need something from me, it must be written on the family calendar in the kitchen.  Telling me something once in passing or when I'm about to go to bed does not count.  
Still, they rarely remember to write it down.  I shouldn't be surprised;  they don't remember where they put the car keys, the important notebook with their final project, or their ballet/tennis/running shoes.
Side note:  Apparently moms are expected to have the "Find It" gene;  when mom doesn't know where something is that she doesn't use or hasn't seen, dear teen gets indignant.  Really?!

So this May, a few things fell through the cracks of our fractured organization system.   They got frustrated when I didn't remind them of something and I got frustrated when they told me about something at the last minute.   When the stress got too much and a Behcet's flare and gout attack made me slow down, we all managed to stop, take a breath, and work as a team.

Teenage brains are very capable of compassion for others when it's most needed.  And a healthy sense of humor helps, too.

Sunday, May 20, 2012

Behcet's Disease Awareness Day --  May 20th

If you don't know about Behcet's, consider yourself lucky!

Learn more here:

The major BD symptoms include:  ulcers in the mouth, ulcers/lesions on the genitals, eye inflammation, arthritis, skin rash/acne.  

Other symptoms may include: skin lesions, bowel/intestinal inflammation and lesions, fatigue, meningitis, and cranial nerve palsies.  

Imagine waking up one morning with a small spot inside your mouth that feels a bit tingly (not the pleasurable sensation).  From the tingle an ulcer emerges.  It grows from a small dot to the size of a dime.  And the sore is painful when touched by food, a tooth, etc.  Often when one ulcer erupts, another is also in process.  The tongue, inside the cheeks, lower and upper lips, and gums are all favorite places for these pesky and painful sores.  Along with the sores, the inside of the mouth often becomes inflamed.  These are different from canker sores, which typically occur on the lips or outside the mouth.  

Whether there is one ulcer or a mouthful, the experience is quite painful.  It is painful to talk, chew, and lay your head down on a pillow.  Without treatment (typically the steroid prednisone), the ulcers grow and linger for three to four weeks.   I've gone through several tubes of Ora-jel and lots of "magic mouthwash"to numb the sores.  


But wait... it gets better:  imagine the same tingle or itch in the genital area.  The ulcers are particularly painful for women and men.  Sitting, walking, and urinating are painful when Behcet's erupts "down there."  Orajel helps numb these sores, and lidocaine/prilocaine work much better.   

During a flare, it is important to drink a lot of water and remain properly hydrated.  The natural tendency is to reduce drinking to reduce the need to eliminate (which is quite painful).

Many Behcet's patients also experience uveitis (inflammation in the eye).   I am grateful that my eyes have not been affected.  

Why Haven't You Heard of BD?
Behcet's (pronounced "beh-chet'") Disease is a rare, chronic inflammatory disorder.  The disease was named after the Turkish doctor who identified this illness, Dr. Hulusi Behcet.

Behcet's is relatively rare in the United States and Europe.  It's prevalence is 0.3 - 6.6 cases per 100,000 population.    It is estimated that there are approximately 15,000 people in the US living with Behcet's.

It is most prevalent in the Mediterranean region, the Middle East, and Far East (China and Japan).  It occurs there in approximately 1 in 10,000 people. Behcet's Disease is often called the "Silk Road Disease."

Considered an auto-immune disease, there are no clear answers as to what causes the body to attack itself in this way.  While it is associated with HLA-B51 allele, genetic testing has not progressed sufficiently to be conclusive.

Why is it difficult to diagnose? 
Several of the symptoms are seen in other diseases.  Other causes must be excluded, such as virus, bacterial, or sexually transmitted infections. There is not yet any identified protein, gene mutation, or other element that can easily confirm the diagnosis.

In addition, because there are so few cases in the US, most rheumatologists and other specialists do not have much experience with Behcet's.

The first rheumatologist I saw said he doubted I had Behcet's Disease because in his 25 years of practice he had only 5 patients with Behcet's Disease.  He knew that I also have Polycythemia Vera (a Myeloproliferative Neoplasm) which is also rare.  "It's highly unlikely one person would have such a constellation of rare diseases."  I decided that I needed a doctor with more experience treating the disease.

I am very fortunate to have found Dr. Andres Salazar with Kaiser Permanente in Georgia.  He did his Rheumatology Fellowship at Emory University Hospital & Emory Clinic under Dr. Jonathan Waltuck.  Dr. Waltuck has Behcet's patients and Dr. Salazar became familiar with this rare disease and various treatments.

The Behcet's ulcers made their presence known in me in the Fall of 2009.  In December, 2009 the ulcers were so plentiful and debilitatingly painful that I stayed home while my family went on a much-anticipated ski vacation.  While the family enjoyed the slopes, I got to meet an infectious disease doctor.
After ruling out all types of infections, he believed that I had Behcet's and referred me to a rheumatologist.
I was treated with prednisone, a corticosteroid, to hasten the healing.

For one year I took prednisone daily, varying the dosage to minimize the ulcer flares and shorten the duration when a flare occurred.  The side effects, however, were absolutely terrible.  Not only did I gain 40 pounds, I had insomnia, became sleep deprived, was very cranky, and forgot many important things.  All this combined made it impossible for me to work reliably.  I didn't like myself nor anyone else.

In January, 2011 I tapered off the prednisone and begged my doctors to let us try something else.

Now I get Remicade infusions every six weeks and take prednisone at the first sign of a BD flare.
Remicade (infliximib) is an immuno-suppresant drug used to treat rheumatoid and psoriatic arthritis and Crohn's disease.  While it can lose its effectiveness on some patients, I'm hopeful this will provide relief for as long as possible.  Some of the other treatment options are not available to me because of the polycythemia vera (my bone marrow over-produces red blood cells).

So far, so good.

Wednesday, April 04, 2012

Roaming through Rome

I have the recent good fortune and good health to travel with my hubby to Firenze (Florence), Italy and with our family to Roma (Rome), Italy over the last few weeks.  Florence is a city that's been on my "bucket list" for years.  To visit both cities within 3 weeks provides an excellent perspective for two very different cities in Italy.

When one lives with chronic illness, preparing for a week away from home and doctors requires more planning than usual:  
  • Update lab work to verify medication dosages.  [check]   
  • Prescription refills & pack enough for visit plus a few extra days.  [check]
  • Translate names of medications & illness(es) into language(s) of countries to be visited.  [check]
  • Update "emergency information" that is tucked with driver's license & passport (Name, date of birth, allergies, illness(es), medications & dosages, physicians' names & telephones, insurance info, emergency contact).    [check]
  • Make sure meds are in the carry-on bag.  [check]
  • Remind travel companions of your right to "opt-out" or "opt-in" for various excursions.
This is the first overseas trip I've taken in two years without a cane.  This is a big deal for me and my kids.  I think the cane is a visual reminder that I am not completely well.  While I forget I have it (as it becomes a natural appendage when one's balance is not steady), strangers always seem to take notice.  

For the two previous spring break vacations, we had the "opt-in" approach to sight-seeing.  My kids assumed that I would NOT be sight-seeing (aka, LOTS of walking) unless I told them that I would go with them.  This set their expectations low, so when I did participate it was a pleasant surprise.  

This year, since I'm feeling better, I had the "opt-out" approach.  I planned to keep up with the family UNLESS I declared the need for rest.  I did well for the first 2 days in Rome.  Today, I opted out of the visit to the Forum and Colosseum.  They woke early and left the hotel by 8:30 a.m. and I just couldn't get up.  When they get back to the hotel, I'll have all the bags in the lobby and we'll head to the airport.

Here are a few things that I've found interesting while visiting Italy:

1.  Drive on the roads at your own risk!
I am by no means a wimpy driver;  I assimilated to Boston's aggressive driving style and can snake my way through Atlanta's gridlock.  But nothing in the US prepares you for driving in a country where road lanes are mere suggestions.  The lane stripes are decorative, at best.  Not only do the drivers weave back and forth, mopeds appear out of nowhere between lanes and between the right lane and the curb.

In the US, there is a motorcycle and bicycle awareness saying that goes:  "Look twice, save a life"   In Italy, one's head must be able to revolve 360 degrees at rapid speed to avoid these sneaky mopeds.

When a moped made a left turn from the right lane and cut off a car in the left lane, the car driver honked his horn.  The moped driver was able to provide the one-armed response as he took off down the next street.

I was told that mopeds do get hit frequently, but people rarely die.

In Florence, some roads are for all vehicles, others are for mopeds, bicycles, and pedestrians, and others are pedestrian-only.  Again, this appears to be a mere suggestion.

2.   Vehicle Parking is an art form.
When my kids prepared for their driving tests to get their licenses, they bemoaned having to parallel park.  "Why do we need to learn this?"   (words from suburban kids, obviously).  Well, here in Italy, the kids have new appreciation for the skill.  We actually stopped walking to observe some of these parking masters.  These drivers fit into tight spaces easier than I can pull on Spanx.

There are Smart cars everywhere.  The cool thing about them is they are about as long as many cars are wide.  That means that they can back into the curb and fit into a created space without sticking out into the road.  I'll post pics when I get a faster internet connection.

3.   Authentic "Italian" food varies by region.
This ain't the Olive Garden or Macaroni Grill.   In all regions, the antipasti (appetizer, "before pasta") dishes typically contain olives, salamis, and maybe a few veggies.   The "primi piatti" (first course) is usually a pasta of some sort.  The "secondo piatti" offers what is found in that region.  In Venice, most of the meals have seafood.  In Florence, there was more red meat:   wild boar, beef, etc.

In Rome, while it is near the sea, the food is simpler and has a heavy Jewish influence.  Artichokes are prepared more ways than ever thought possible.

The pasta in Rome is more "al dente" than Florence, and is served warm, but not hot.
Roman food is sometimes called "cucina povera" (what we might call "peasant food") using "fifth quarter" ingredients.  Historically, the plebeians (mostly working poor) made use of the left over parts not served to the upper classes.  For example, ox tail is served many different ways.  The bacon is usually from the pig's jowl, not the belly.

The typical pizza here is thin-crust with light topping of pomodoro sauce (tomato) and mozzarella cheese melted on top (called a "margherita pizza").  They are baked in a wood-fired oven.  Here, simple is better.  Also, they don't have pepperoni as we know it.
The closest thing is the Pizza Diavolo, which has salami piccante (spicy salami).

4.   Catholic churches are everywhere!
It shouldn't be surprising, given the long geo-political history of the Church in Europe.  Still, the artwork that has been donated and collected over the years is breath-taking.

In Florence, one of the churches added a sarcophagus & statue for Galileo years after he was excommunicated from the Church for contradicting its proclamation that the world was flat.   Apparently, once the error of their ways was noted, they claimed his genius.

Some of the churches were originally places of pagan worship;  the conquerer gets the spoils.  And some churches were also used as prisons during various skirmishes and wars.

The first time I visited Rome, I was absolutely awestruck by the beautiful churches.  This time, I can admire the beauty but they don't seem as holy after learning about the cruelty that was sanctioned by people of faith.  This discomfort lets me know that there is much that I do not know.

5.   There really is a lot of Italian marble.
The marble is as varied and gorgeous as one can imagine.  It is on floors, tables, counters, sinks and seems to hold up very well.  The inlay work done here is nothing less than beautiful art.  
I've seen so much marble here that I no longer think of fudge makers on Macinaw Island.  :)

6.   All Gelati is not the same.
I wanted to do a gelati crawl (similar to a pub crawl), but one piccolo cup (small) is all I could handle at one time.  The places where the frozen cases show mounds of brightly colored gelato tends to be mass-produced.   We sought out the places that had "artisinale" gelati -- made in smaller batches and generally much better tasting.
I don't know how many WeightWatchers points are in a piccolo, but who cares?  I walked a lot this week!

7.   For all of Europe:  It's not so easy to tell who is from the United States
Gone are the days when Americans stuck out like sore thumbs...  trends are globalized and until you hear someone talk, it's not always obvious where they are from.

I saw a lanky teenager with his "pants on the ground" (waistband hitting mid-butt cheeks) with skater-dude blond messy hair.  What gave him away was a t-shirt with a fake CocaCola logo (being from Atlanta, Coke's headquarters, I'm quite familiar with the brand).   Then he spoke to his buddy in a Germanic language.   It cracked me up!

I encountered a family with small children who were speaking Korean.  When I offered my "hello" greeting in Korean (thanks to my friend Kimberly), they responded in perfect English.  Turns out they live in California and are keeping their native language alive with their kids.

So here's a few travel tips:

Don't talk to your friends about the people around you as if they are not there or don't understand you.  And do not say anything you might regret.  They just might understand perfectly (even if English isn't their first language).

At the same time, don't ASSUME everyone speaks English.  That's just rude.
I can't tell you how many Americans I observed talking LOUDLY to Italians (as if volume compensates for translation).  
If you make an attempt at the local language, the locals will go out of their way to work with you.  There is a lot of pantomime action here, and it can get quite fun.  Also, I found that when I called upon my old French and Spanish, it helped bridge the language gap.   They appreciate the effort.

Print the name & address of your hotel or dining destination on paper and show it to the taxi driver.  This helps him/her get you to the proper place.  The wrong pronunciation can get you to the wrong destination.  :)


Tuesday, February 28, 2012

Rare Disease Day - Around the World

On the last day of February, people around the world living with rare diseases or disorders shine a light on the rare diseases they deal with every day.

We see pink ribbons on everything from car magnets to KFC buckets (yes, really!) to increase awareness about breast cancer.   Rubber wristbands became the rage after the "Live Strong" campaign from Lance Armstrong's foundation got media attention.  

Rare diseases do not get the same attention - or funding - because they are, well, rare.  Without enough patients to comprise a big enough "market" it is difficult to get a strong message heard amidst all the chatter.   Did I mention that it's also difficult for people with the same rare condition to find each other, much less gather the energy and resources to organize huge public awareness campaigns?

The beauty of Rare Disease Day is that it opens up opportunities for new conversations at all levels around the world.  This is the fourth year of RDD in the United States.

So what makes a disease or disorder "rare"?  
The US definition is a disease or disorder that affects fewer than 200,000 people (as defined by the Orphan Drug Act of 1983).   With this definition, there are approximately 7,000 rare diseases active in the US.  Almost 30 million Americans (10%) are living with a rare disease.

The European definition of a "rare disease or disorder" is one that affects fewer than 1 in 2,000 people.

Rare diseases/disorders are often life-threatening or chronically debilitating.  Many of these diseases tend to change over time, degenerating the patient's quality of life and ability to work, live independently, and enjoy many of life's simple pleasures.   Some people are asymptomatic for years before the disease progresses.

Rare diseases/disorders are difficult to diagnose because they share symptoms common to other ailments and the symptoms also may vary from one patient to another.   Many patients are first misdiagnosed and live with inadequate treatment until the true disease state is discovered.

"Rare, but Strong Together"

My diagnosis of Polycythemia Vera, a Myeloproliferative Neoplasm (MPN), was given in the fall of 2009 -- two years AFTER the triple vein thromboses which almost took my life.  At the time of the thromboses and ensuing ischemic bowel, peritonitis, and organ distress, I was diagnosed with Factor XII and Protein C deficiencies.   It took another "close call" event to occur before I received the full diagnosis and began appropriate treatment in 2009.

The diagnosis of Behcet's Disease, an auto-immune illness, was made after a lot of pain and many tests by my internist, gynecologist, and infectious disease doctor in 2009-2010.  The first rheumatologist said he didn't believe one patient could have two rare diseases.  This one continues to be a real roller coaster, but my rheumatologist is excellent about keeping up on the latest (albeit limited) literature, studies, and practices concerning Behcet's.

What's a NORD?
I encourage anyone with a Rare Disease to register with the National Organization for Rare Diseases (NORD) or EURORDIS (Rare Diseases in Europe).   When you register, you can opt to be notified to participate in on-line surveys, clinical trials, and learn when new findings about the disease are made available.  It's free and it's a way to contribute to better science.

National Organization for Rare Diseases

Monday, February 06, 2012

Thrombosis Risk Rises in Women With Myeloproliferative Disorders - OncologySTAT

This happened to me, two years before I was diagnosed with Polycythemia Vera.
Now I know that my experience is shared with other women with MPNs. The number of MPN patients is small and I do not wish this disease on anyone. Yet there is some macabre comfort in knowing that I'm not alone.

Hopefully, when people present with abdominal venous thromboses, doctors will now add MPNs to their list of possible causes. Testing and further treatment will then commence before another adverse event occurs.

Thrombosis Risk Rises in Women With Myeloproliferative Disorders - OncologySTAT