Wednesday, September 7, 2011

Let Me Tell You 'Bout: Charcot-Marie-Tooth Disorder

One of my maternal bloodlines carries the gene for Charcot-Marie-Tooth disorder, also known as Hereditary Motor Sensory Neuropathy.  My mother inherited the gene; and, as it is autosomal dominant, passed it on to 50% of her children.  She had two children, my brother and brother was the unlucky winner in this genetic lottery.

Growing up with a mother who had Charcot-Marie-Tooth wasn't too bad.  The only real limitation she had during my childhood was that she couldn't run.  Period.  Just couldn't do it.  She did cross stitch, sewed Halloween costumes and crocheted throughout the long Canadian winters.

When I was a teenager, the disease started progressing.  It started in a pinkie finger on one of her hands.  It just started to curl and not straighten out on its own.  My mother bought popsicle sticks and I would splint her dying fingers at night in an attempt to straighten them out while she slept.  Her walking ability started to diminish and she would ask to hold onto my arm when we were somewhere new or there were a lot of people milling around us.  She stopped cross stitching because it was getting difficult to hold that little embroidery needle in her weakening hands.  She was only in her late thirties.

Fast forward to last month, when we saw her at my brother's wedding for the first time in almost four years:  Her fingers are completely dead and she's basically stranded if there is no one willing to offer their arm to her so she can walk.  She has progressed to a full-blown foot-drop walking gait and has to pick up a drinking glass with her palms.  It was a harsh reality to observe.  My mother's body is already slowly dying at the tips and working its way inward.  She is fifty years old.

She has crocheted a baby blanket for each of my daughters, but confessed to me at the wedding that her hands simply will not hold a crochet hook anymore.  Not because it hurts, but because she simply doesn't have the strength in her fingers to keep holding onto the hook.  That is why Monkeyboy never received a baby blanket from his grandmother.  Her hobbies have been taken away from her.  She can no longer type, which has taken her living as a bookkeeper away from her as well.

I usually can brush aside the anxiety that accompanies the fact that this disease runs in my family.  I don't have to worry about its effects upon myself or my children, because I don't have it and you can only pass it to your children if you have it yourself.  When I was old enough to be aware of its existence, everyone who was going to get it already had it.

However, my wonderful brother got married last month.  You can't see the Charcot in him, despite my mother being able to see that he had it before he turned two years old.  He's strong and grew up playing soccer, obviously able to run.  I don't think "He has Charcot" when I look at him.

What I think about now is "Half of his kids will have Charcot-Marie-Tooth and it could be as bad as my mother's."

I found out that this month, September of 2011, is CMT Awareness Month.  So I'm sharing with you the facts of this disease in an attempt to raise awareness of its existence and the need for better treatments and someday a cure.  Some of my nieces and nephews will have this disease and it will slowly deaden their limbs when they get older.  I hate that that is the reality that our family will have to watch unfold.

CMT doesn't affect a person's life expectancy; in fact, I have many a great uncle and my own grandmother who are nearing or already into their eighth decade of life.  What CMT does is leach the things you love to do out of your life as your body slowly fails in its ability to perform fine, small and large motor tasks.  It causes loss of sensation in the peripheral nervous system, which means that a person can't even feel things with their hands and feet.  (I remember, years ago, one of my great aunts stepped on a wire and it worked its way through the sole of her foot and up into her ankle without her feeling a thing.)

There are lots of other diseases and conditions out there, many that do affect life expectancy.  It seems silly to ask for awareness for this disorder when, in comparison to Multiple Sclerosis and Cancer (another disease that my mother has had to battle, and eventually won), it's not that deadly.  But it does steal lives.  Lives that start out strong and able-bodied and slowly transform into lives that are lived in a numb shell of dying body, only able to remember days of when they could tie their own shoes or walk by themselves without support.  And seeing that CMT doesn't shorten a life with its progression, a person affected with it can live a lot of days in which they aren't capable of doing anything.  I would hate a future like that.

So please help by simply spreading the awareness of this condition.  It's estimated that 2.6 million people throughout the world have this disorder.  It is misdiagnosed all the time and improper treatment given to those who are actually suffering from its symptoms.  (I can count on one hand the number of doctors who knew what my mother was talking about when she mentioned that she had this disease.) 

This week, as part of CMT Awareness Month, we are being asked to simply make others aware of Charcot-Marie-Tooth disorder.  We can each do our part by blogging about it, tweeting about it or posting the link to the CMT Awareness Site on our Facebook pages.  It's just one little thing that could potentially lead to more funding for CMT research, which could also help out researchers working on similar diseases such as Multiple Sclerosis, Muscular Dystrophy and ALS.

For more information, please visit the aforementioned Charcot-Marie-Tooth Awareness Site, or The Charcot-Marie-Tooth Association's website.

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