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Monday, February 29, 2016

NORD-Wisconsin Rare Disease Day


February 29th has been designated by the National Organization for Rare Diseases (NORD) as as Rare Disease Day. Governor Walker of Wisconsin signed a proclamation.

A disease is considered rare if it affects less than 200,000 Americans. CMT qualifies because about 160,000 Americans are estimated to have CMT.

It is surprising how many Americans are affected by rare conditions. One in 10 Americans has a rare disease. Over 600,00 in my State of Wisconsin are affected.

To mark the day Wisconsin NORD sponsored a gathering at the State Capitol in Madison. Allison Moore of the Hereditary Neuropathy Foundation asked me to represent the CMT community.

I made contact with the organizer Dr. Sheldon Garrison and he asked me to speak to talk about Team CMT.  I think I was asked to speak because of Team CMT, my book and website.  Some in the CMT community have found my efforts to be self promotion. I do them because they give me a chance to raise awareness and educate about CMT.

I also knew that we would have a chance to petition State lawmakers who would be present at the meeting.

I asked the CMT community on Facebook what they would say to the group if they had a chance. Just a few of the issues mentioned included:

  • Money for CMT research
  • Making clinic offices compliant with ADA requirements. If a patient is in a wheelchair they may not be able to get an exam. If a wheel chair is not able to be raised, a patient may not be able to reach the exam table.  Practices are supposed to have them, but many do not.
  • Educate elementary and middle school teachers on the basics of CMT.  In many CMT starts in childhood. Teachers could alert parents about potential CMT.  At the very least accommodations could be made for a CMT affected student.
  • Since September is CMT awareness month, please issue a proclamation in the state of Wisconsin.
I talked about all of these issues and how important it is to raise awareness of CMT and to get an accurate diagnosis.

A representative from my State Senator was at the meeting so I plan on reaching out to him to follow up on some of our issues.

There was some great research on gene therapies presented by Dr Michael Lawlor of Children's Hospital.  There have been some real breakthroughs for muscle diseases.

The most moving part of the day were the patient stories. There was a father of a boy with Sanfilippo Syndrome. Sanfilippo is a progressive disease where the patient loses physical and cognitive ability.  The disease started around 2 years old and his son now 8 years old has lost the ability to speak. He will continue to decline and will die before he reaches age 20.

There was a mom of two boys with PKU, They have a condition that does not allow them to digest protein. They can eat fruit and some vegetables.  If they eat anything else it damages the body including sever damage to the brain.

It really puts CMT into perspective. We have challenges but it does not affect our cognitive ability or our mortality.

It was a really good day and I made some good contacts that I will use to help raise awareness. I can't wait to go back next year.  Sorry there are not pictures, I brought my nice along to take pictures and she was so busy listening to my talk she forgot to take pictures.

*********************


Chris Wodke
Founder & Manager Team CMT
www.run4cmt.com

Chris is a triathlete and long distance runner. She is a three time participant of the Boston Marathon.  In 2012 she finished 2nd at Boston in the Mobility Impaired Division. She was on the course in 2013 when the bombs exploded.

She has appeared three times at the Paratriathlon National Triathlon Sprint Championship. She was the 2012 and 2014 National Champion Paratriathlon Open Division Champion.

In 2014 she was the PC Open Champion at the Duathlon National Championship. She has qualified to represent Team USA at the Aquathon ITU World Championship in Chicago in 2015.  

 In 2014 she represented  the U.S. as a paratriathlete at the Pan-American Triathlon Championship in Dallas, Texas.

She travels around the country raising awareness of CMT.

She is the author of the book, “Running for My Life” that details her experience as a CMT affected athlete.

You may visit her author page at:
http://www.amazon.com/Christine-Wodke/e/B00IJ02HX6


Team CMT is a group of athletes and supporters working to raise awareness and to find a cure for CMT. We have 176 members in 31 states. We also have members in Australia, England,Scotland, Canada, Vietnam, Turkey, Finland, Scotland, France and Iran. If you wish to join us visit our web site; www.run4cmt.com or www.hnf-cure.org


CMT or Charcot-Marie-Tooth is the most commonly inherited peripheral neuropathy. It affects over 155,000 Americans (as many as MS).  It is a disease of the nerves that control the muscles. It is slowly progressive, causing loss of normal function and or sensation in the lower legs/feet and arms/hands.

Symptoms include; muscle wasting in the lower legs and feet leading to foot drop, poor balance and gait problems Atrophy in the hands causes difficulty with manual dexterity.

Structural foot deformities such as high arches and hammer toes are common.

Poor tolerance for cool or cold temperatures and many people have chronically cold hands and feet.

Additional symptoms may include fatigue, sleep apnea, breathing difficulties and hearing loss.

Additional Link
Follow CMT affected Paratriathlete Timmy Dixon
http://cmtamputee.wordpress.com/

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