Tuesday, August 28, 2012

CMT Awareness Month, 2012

As September soon approaches, another CMT Awareness Month begins!  That may not mean very much to some, though in the world of a person who has Charcot Marie Tooth disease and deals with the daily struggles, it means a great deal.  These struggles can be varied, and can include muscle loss in extremities, nerve pain, numbness and tingling, loss of function of hands and feet, foot drop and difficulty walking (requiring the use of assistive devices such as leg braces,) poor circulation, trouble discerning hot and cold in extremities, difficulty keeping hands and feet warm...really, I could go on and on.  Sometimes I'm afraid I sound like a broken record, though it's hard not to mention these difficulties...as they are things I live with everyday.

Despite the length of that list, I think one of the hardest struggles to deal with when you have CMT is the lack of awareness you face within your community...though even more difficult is facing the same lack within the medical community...because that is where you expect the most awareness, where you "lay all your cards on the table" and put your trust in an individual who is supposed to know more than you do, in order to provide you with some guidance in dealing with your disease.  Though I welcome people's questions out in the world when they see that something is different about me, or notice that I wear braces, when those questions pop out of the mouth of someone with a medical background, it frustrates me.  Maybe that is unfair.  I try to tell myself it's unfair, and I still answer whatever questions I am asked, because deep down I know it is a moment to 'Raise Someone's Awareness of CMT'...and then I deal with my frustrations later. 

I am sure every disease has dealt with the 'awareness' issue at one point in time, because first it must be discovered...then that discovery needs recognition, and further research needs to be conducted so that therapies, medications and hopefully cures may be found.  It's a process of steps that need to be climbed, and it takes time.  I started thinking about other major neurological disorders out there, knowing that each one has had to climb these stairs, and wondering how high and far they had gotten.  So I started Google-ing these different diseases to find some answers.  First I looked at Multiple Sclerosis, as the symptoms can be very similar to CMT.  MS, like CMT, was first discovered in the late 19th century...and in the 1960s the disease's processes were better understood,  clinical research began, including the testing of new therapies.  In the 1980s, the MRI started being used as a way to show damage to nerve fibers, revolutionizing the diagnosis of the disease.  As of now, there are several FDA approved drug therapies that are available to assist with MS symptoms, and slow its progression.  Approximately 400,000 people in the US have MS, and more are diagnosed everyday...and probably the most important thing to remember is that most people, including those within the medical community, have heard of MS and may even know someone who has been diagnosed.  See??  A lot of steps...and a lot of time.  Then I looked at Parkinson's...another disease that most people have heard of, especially within the medical community.  No one is sure when Parkinson's was first discovered, though there is evidence that it has been treated for thousands of years around the world.  It was first formally recognized in 1817 and finally distinguished as a separate disease called 'Parkinson's' in 1861.  In the 40s and 50s surgery started to be used on the brain that was risky, though if successful, could improve symptoms...further research in the 60s led to the development of medication, and today there are several medications to improve symptoms and slow the progression of Parkinson's.  At this time, approximately 500,000 people in the US have this disease.  Again, there were many steps to be taken, and sometimes the gap in between was big, and hard to cross.  Another well known disease (by name, at least,) is Alzheimer's, which unlike the others wasn't discovered until 1906...and the gap between this discovery and when recognition began was quite large, as it was not considered a major disease until the 1970s...instead it was just considered a natural process of aging.  Since then (mostly in the 90s,) important discoveries were made and several drugs were approved to treat symptoms of Alzheimer's, and slow the progression of the disease...and there are approximately 2.4 million people in the US who suffer from Alzheimer's today.

And then I turned to CMT...because after viewing the steps and progression of these other diseases, I was eager to compare.  Like MS, it was discovered in the late 19th century--1886 to be exact, by three physicians: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth...which is where it gets it's funny name.  Over the years different therapies have been found to be helpful, such as occupational and physical therapy, and aqua therapy.  In 2008 the STAR research program was started with the goals of finding a drug treatment/cure for CMT, and we are getting very close (within a few years' time) to finding a medication that slows and/or stops the progression of this disease.  Approximately 150,000 people in the US have CMT, though that number is believed to be much higher as at this time people with this disease are often misdiagnosed.

Does anyone else see the HUGE gap there? That huge crevasse that lies between 1886 and 2008? Whereas the other neurological diseases seemed to have big pushes of interest and research going on somewhere between the 40s and 90s, our big push began in 2008...three years ago.  Am I bitter??  I really don't mean to be...I know that other people who stare their own diseases and disorders in the mirror everyday have struggled, and I know for many years they searched for a diagnosis and a name, just like I have had to do.  I am sure once the diagnoses came, many of them dealt with years of similar experiences with medical professionals...sharing their diseases only to hear questions like "What's that?"  I am also sure they were just as frustrated during those moments, as I have been in mine.  This is just my turn to be patient, to be frustrated, and to be angry all at the same time...and it's also my turn to be proactive, answer the many questions (even the frustrating ones) that come my way, and raise as much awareness as I can.  Hopefully by doing so, people who have Charcot Marie Tooth disease in the many years to come can Google 'History of CMT' and see that even more steps were surmounted.  If nothing else, information on the disease will appear right away, instead of numerous pages on the history of Country Music Television.  I'm keeping my fingers crossed on that one!

Meanwhile, I wait.  And when I tell the next person within the medical community that I have CMT (such as the nurse who drew my blood to test for type 2A) and they ask me the question "What's that...shark teeth?" I will try my best not to sigh too loudly, and answer them in a calm and pleasant manner.  I'm still crossing my fingers on that one, too.  And yes, the nurse did ask me that question...I'm not making that up.  Believe me, I'm not the only one to hear such things...my friend M wrote about similar experiences in her blog recently.  Check it out at: http://cmtnyus.wordpress.com/2012/08/23/guest-post-for-medical-mystery-funny-name-serious-disorder/.  And if you get an opportunity to pass on awareness of this disease to someone else, please do so!  And when they seem confused about the name, feel free to tell them there are no sharks, teeth or country music involved.  With your help, awareness of CMT will finally be raised to a whole new level, one little step at a time. 

Saturday, August 4, 2012

Laughter is the Best Medicine

I will soon be taking the next step in my long journey, to determine what type of CMT I have.  As I've mentioned in past posts, there are two types of this disease that are being focused on by the team of CMTA scientists, as they strive to find a treatment and cure: type 1A and 2A.  Everyday we step closer and closer to finding a medication that will stop those types of CMT from progressing.  Why are those two the main focus?  Because they are the most common types of CMT...and there are about 50 different types.  Yikes!  What a daunting thought...although just a few years ago, the scientists weren't even looking for any sort of medication.  They hadn't even become a group yet.  And even though every problem has a solution, sometimes it takes a while to find it...and your patience is tested in the meantime.

So each step needs to be taken one after the other, and often there's a lot of time that passes in between.  On Monday I'm taking the next one, and having my blood test for type 2A...I already know I don't have 1A.  One down, only one to go...hopefully!  According to my insurance company, the test will be covered...all $900 of it.  I'm hoping they stick to their word, as that seems to be a skill a lot of insurances are severely lacking these days!  And I'm praying the test shows that I have type 2A, and finally the mystery will be solved...and within a couple of years there will be a medication that stops me from getting any worse.  There is a good chance I have this type, but if it turns out that I don't it kind of puts me back at square one...each type is tested individually, with a $900 price tag attached.  And the waiting game will begin once again, as I wait as patiently as possible for the medication to be discovered for 1A and 2A, so the focus can turn in a new direction.  I have found that I can be very patient in a lot of different circumstances...though I'm not sure if this will count as one of them!

So as I sit here waiting for Monday to come (while trying desperately not to gnaw all my nails off,) I realize I need a distraction.  I have my painting to turn to, though when I take a break from creating I need to have something to fill the gap.  So I started thinking about funny stories from my past to change my focus, as laughter always does that quite nicely!  There's a lot of memories that come to mind.  One in particular occurred during a big change in my life, when I was 13 years old.  I grew up in the country across from a cornfield, with willow trees and a little creek in my back yard...people seemed few and far between in those days, my best friend at the time living a mile away.  Now my best friend (a different person,) lives about 30 seconds away!  My current world is much different than my sheltered country childhood, and when my parents decided to move the family to Guilderland, NY, we might as well have been moving to China.  Uprooting our lives was a scary prospect, though essential to shorten my parent's commute to their jobs in Albany.  I was quite shy at that age, and as I didn't drive I couldn't see the sense in our move...all I knew was the school I would be transferring to was HUGE, no one would like me, and I was positive I would never see another tree as long as I lived.

Most of that turned out to be false...the school was huge, but I met my best friend K on my very first day (the one who is now 30 seconds away.)  And we had trees in our yard--front and back, and although there were other houses across the street instead of corn, there was still enough foliage to make me happy!  Though on my last day at my old school I didn't know things would work out, and the fear of change was larger than the change itself, as it often tends to be.  I don't remember much from that day...I'm sure I barely said a word to anyone, and probably didn't learn a thing.  All I do know is how scared I was, not only of where I was going but that I was going in the middle of the school year...friends would already be paired up at the new school, and teachers would already have their routine.  I would be an interruption...and my brain just couldn't get past that.  So on that last day my morning classes came and went, and soon it was lunch time.  I stood in line with my plastic yellow tray, not paying much attention to the food that was placed on top.  Finally I was in front of the lunch lady running the cash register..."That'll be $1.17," she said to me, and I reached into my pocket.  Ooops!  I thought, as I realized my pocket was empty!

To this day I don't know where I got the courage to say it--normally a problem like that would send me into a panic!  But for some reason I didn't panic at all...maybe that was because not having the money to pay for lunch was small potatoes, compared to the changes I was facing?  I'm not really sure.  All I know was I looked her straight in the eyes and replied, "Well, this is my last day, cause my family's moving...and I have no money.  So consider it a gift!" and I grabbed my plastic tray and left the line.

Really, if I could go back in time and ask that 13 year old Christine where she found the chutzpah to say those words, I would...if I could bottle that calmness, I'd do that too.  Maybe the trick is to remember that no matter how scary things seem, the obstacles placed in front of us are usually surmountable...or maybe I just need to remember that laughter is always the best medicine, and to laugh as much as possible.   If nothing else, I probably made that lady smile, and got a free lunch in the process.  And in the end I'm left with a funny memory, to last me a lifetime!