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A&A #2: CHARCOT-MARIE-TOOTH DISEASE
SEPTEMBER 06, 2016 AT 13:46PM EST BY EFREM ROBERSON

This submission comes to us from Leona Pence, a donor to one of our studies who also just happens to be an author! The piece below describes her history and experiences with CMT and her impressive accomplishments through significant hardship. We hope you'll enjoy learning more about her, her condition, and her life through the passage below.

For readers who are interested in learning more about Leona or in reading her novel, Hemphill Heights, we encourage you to visit her Amazon Authors page.

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 2,500 people in the United States. There are many forms of CMT, but the type I inherited is CMT1a.

You can read more about CMT by clicking this link.

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. My brother and I were mocked often; I was embarrassed to walk across a room.

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 later 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, supportive 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 fifty-two, 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 usually affect one's lifespan and can range from mild to severe. Since my hands are too weak to type, I wrote a novel called 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 (Fiction For 2000) still boggles my mind at times.


Congratulations from the DNAsimple team, Leona!