Thursday, April 3, 2014

C is for Charcot-Marie-Tooth by Leona Pence



Welcome to Unwritten's part of the worldwide A-Z Blog Challenge!! Every day in April (except Sundays), we'll have a new post related to the letters of the alphabet from A-Z. Our theme here on Unwritten is "I Will Survive". I hope these stories will inspire and uplift you. Comments are VERY appreciated!




C is for Charcot-Marie-Tooth
by
Leona Pence

How many of you have heard of Charcot-Marie-Tooth disease (CMT)? Named for three physicians (Jean –Martin Charcot, Pierre Marie from Paris, Howard Henry Tooth from Cambridge England) who identified it in 1886, CMT is one of the most common inherited neurological disorders, affecting 1 in 2500 in the United States. There are many forms of CMT, but the type I inherited is CMT1a. 


There are many people in my large extended family with CMT. To pass the gene, one parent must have the disease. There is a 50-50 chance of passing it on to their children. I am one of eight children, three of whom inherited the genetic flaw from our mother.

CMT affects peripheral nerves and muscles. As a result, my lower legs and feet, lower arms and hands are affected. By the time I was eleven, I’d had several surgeries on my feet to correct deformities. I walked with a limp and unsteady gait, but I had a fairly normal childhood. The worst part for me growing up was not having a diagnosis. My mom just said we had bad blood. School children could be cruel. They would ask why I walked funny and I couldn’t give them an answer.

A hearing loss is rare with CMT. However, my family, being rare, inherited that flaw too. My mom was deaf by the time I was born, and my brother was severely hard of hearing at an early age. My sister and I didn’t have hearing problems until our latter twenties. I am thankful I was able to complete my schooling before my hearing was affected. CMT is slowly progressive. By the time I was forty-five, I was both deaf and using a wheelchair. My hands/fingers are too weak for sign language, but I’m an excellent lip reader.

I got married to a wonderful man on my 19th birthday and raised four children with him. Our oldest son inherited CMT. We were given a diagnosis by the Muscular Dystrophy Association when he was in the third grade. At age forty-nine, he works as a microbiologist in Rochester, NY. He is deaf and uses a cane for balance.

My motto is: When life hands you lemons, make the best lemonade possible. I’ve tried to keep a positive outlook. CMT does not affect ones lifespan and can range from mild to severe. Since my hands are too weak to type, I wrote Hemphill Towers using the eraser end of a pencil. I now use an ipad stylus to type with to keep eraser goop out of my keyboard.

CMT is a complex topic. I hope you’ll click the above link to read more about it, and bear in mind that all people who walk with a staggering gait and hold onto walls are not drunk. They just might have CMT.
I don’t know if I’ve overcome obstacles or just worked the best I could with what life offered me. Losing my husband to lung cancer in 2006 was the hardest of all. But it forced me to turn to my computer to save my sanity. A big door to the world opened for me. I made more friends than I ever thought possible. Writing a novel and being a classroom mentor at F2K still boggles my mind at times.
                                                                     
****

Leona Pence started reading romance novels as a teen. She graduated from Nancy Drew stories to Harlequin Romance, and then to her favorite author, Barbara Cartland and her vast Regency romance collection. Happy endings were a must.

Leona began writing late in life after the death of her husband of forty-four years. They married on her 19th birthday after a three month courtship – and yes – love at first sight really did happen. She’s a mother of four, grandmother, and a great-grandmother too. She enjoys reading, writing, online pool, and especially being a Mentor in F2K, a free online writing course.

24 comments:

  1. Hi Leona, That's so informative and thank you for explaining it. I've not heard of the condition before. Anne Stenhouse

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    1. So many people have never heard of it Growing up, I thought my family was the only ones who had the problem. I joined the CMT Facebook group and amazed at all the people worldwide affected by it.

      Thanks for stopping by, Anne.

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  2. Leo, thanks for sharing your story. It is a story of great hope and courage to anyone who reads this. I love that you did not allow yourself to become a victim of circumstance or a casualty of genetic war. Rather than being defined by the illness in the sense of hopelessness and defeat, you defined the essence of hope, courage and determination to live life to the fullest. You are a true icon of victorious living and a hand of salvation to those teetering on the edge of despair; a light shining in the darkness.

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    1. Thank you so much, Patricia, for your comments. It all boils down to accepting your disability and moving forward in spite of it. I'm am blessed by having people like you in my life.

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  3. I get a lump in my throat reading your post again. As you know, proofreading it for you was a real turning point for me. This post has already changed lives. Thank you. And what a beautiful picture! Purple becomes you. :) ♥

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    1. Thanks, Von. I do like the color purple. lol

      I hope your son gets a diagnosis soon. I'm glad my post helped in some small way.

      Hang in there, my friend.

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  4. Leo,

    I've said it many times, but it merits repeating again here. You have been one of the biggest inspirations for me. Looking at you and what you've overcome gives me the courage to continue in my own writing. I hope that you will continue what your doing both in F2K and with your writing goals. You're presence helps so many. Love ya, and Happy Writing!

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  5. Reading this blog post for the A-Z challenge has been inspiring! I am so happy you were a few numbers below me. Your notice regarding the spam bot made me laugh out loud too. Ha ha. Brilliant. :)

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    1. Thank you for reading the post. Yep, Mysti has a way with words concerning spam. They don't dare cross her path anymore.

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  6. Thanks, TJ.

    You inspire me too. I've never seen a person take to writing the way you have. And, wow, like me, you took to the Saturday morning chats. It's been a pleasure to get to know you better in there.

    I hope to continue writing and being in F2K/WVU as long as I can.

    Best wishes and lots of luck with your novels.

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  7. Great post, Leona. You are a true inspiration. I'm so honored to know you. :)

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  8. Thanks, Marsha, the feeling is mutual. There's nothing quite like a circle of writer friends.

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  9. I'm always impressed at how much you've achieved, Leona, personally and as a writer. Your positive attitude to life's challenges never fails to inspire me.
    (Made me laugh to hear about the eraser goop. I get a similar build up of rubber goop on my laptop mouse keys.)

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    1. Thank you, Rose. I nearly destroyed a laptop using pencil erasers. I went through a gazillion of them while typing my novel. My lapttop kept shutting itself off and somebody --Benning, I believe -- warned me that his did the same before burning up. A friend took it apart to clean and said the entire bottom was covered with eraser goop.

      Thankfully, I can now buy ipad styluses buy the 10 pack. The rubber tips don't last too long, but they are lightweight and easy to use.

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  10. That smile! How marvelous it is to open a website and be greeted by such a smile! Leona, one of the bravest people I know, is also one of the most talented. And cheerful. And too many other superlative adjectives to quote here. Best: one of my best friends.

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    1. Ah, Mar, all those adjectives made me blush. I don't feel brave or all that talented but I'm glad you think so. Remember, I'm your protege.

      You helped me a lot on the path to be published. You're one of my best friends too.

      Thank you for your very kind comments.

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  11. Hi Leona, I'm so glad you pursued your love of writing despite all your trials! I've just discovered the ABC blog, and now your blog! Thank you for sharing yourself and your positive outlook on life:)

    Cheers, Sara

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    1. Thank you, Sara, for reading and commenting. Writing is a wonderful way to spend time, and even better when people actually like what you write.

      I'm glad you stopped bye.

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  12. Hi Leona, I've never heard of CMT before today. Thanks for such an informative and inspiring post, and what an inspiration you've been to your children. Sending you best wishes and much success with your writing!

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    1. Thanks, Helena. Yes, my children are proud of me and I know my late husband would have been so happy that I wrote a novel.

      I guess a few more people know what CMT means now. The Facebook support group I joined has over 3,000 members and it's just a drop in the bucket.

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  13. I love you Mom and you have always made me VERY proud!!

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  14. Thanks for sharing this with everyone, Leo. You've accomplished so much in your life, more than many without any disabilities. I applaud you!

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  15. I'm continually inspired by Leo the Lioness :) and so thankful we met through F2K. The great thing is, I get to meet her in real life this fall!

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  16. I love you too, Rhonda, my firstborn daughter.

    Thanks, Joyce. If I could just get my writing muse back, I'd like to accomplish more.

    Mysti, I can't wait to meet you and VJ in September. You'll also meet my daughter Rhonda.

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