Month: September 2020

Never Say Never: How an Ebike Rocked Our World

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The training wheels came off my own bike so long ago; I’d forgotten the emotions, challenges and vulnerable feelings of trying to balance on two wheels for a few pedal strokes without crashing to the ground. In fact, I had always taken riding a bike for granted until my 5 year-old son, Yohan, attempted to ride his bike without stabilizers. The experience was stressful, defeating and frustrating.

“This is not fun. Not fun at all. I’m done.” he said as he walked slowly back in the house, head down. “I keep tipping over. I can’t get my feet on the pedals. I’m going to die out there. Biking’s dangerous and stupid!!” When Yohan sets his mind to something, there is no going back. He gave up biking on the spot – forever?

Fast forward 15 years to the excitement of leaving home for University. Yohan was thrilled to have been accepted to Pitzer, a small college in southern California, expanding over 35 acres of relatively flat land. At 20 years old, Yohan’s arches had become extremely high, his toes curled and his ankles, unstable. Chronic burning pain and fatigue were also issues to taken into consideration. Pitzer did not offer transportation between classes, so we discussed alternative solutions.

How about trying a moped, a scooter, a golf cart, or a Segway (I was half joking about the Segway)?  Every single idea was shot down in a blink of an eye, until Yohan’s dad mentioned a bike. There was a pause before Yohan said, “Lemme think about it.”

Segway I2 SE – Blue Ridge Electric Fun
Segway? No Way!

The following week, we were looking for a bike with a low crossbar. “Oh, you are looking for a girl’s bike?” joked the salesperson. No one laughed. “Idiotic comment.” I muttered under my breath. “No, we are looking for a low top tube for people who have a hard time swinging their leg over that bar.”

At about the same time we purchased Yohan’s bike, my brother, Anthony, happened to be in town. He spent an hour with Yohan in our long driveway, providing the guidance, confidence and tips Yohan needed to succeed. With a little practice, Yohan overcame a lot of his fears, stayed upright and felt comfortable enough to bring the bike to campus, where he used it a handful of times to get back and forth to class.

Look Mom! No training wheels!

Riding a bike on campus comes with its own challenges, including other student bikers doing wheelies, skateboarders weaving in and out of people, inattentive students tuned into their cellphones, etc. At graduation, we packed up all his belongings, minus the bike, which was in a state of complete disrepair, still attached to a bike rack, with a kryptonite lock whose combination had been long forgotten.

Just when we thought biking would never be in Yohan’s future, we rented a Scott e-bike during a trip to Tahoe….and overnight, a cyclist was born. He was able to go farther, faster, and for the first time in his life, could accompany his friends and his dad on some longer rides. It has a low step-through design (aka a girl’s bike), and in pedal-assist mode, you still get a great work out and have backup power when needed.

Photo Credit: Yohan’s friend – the one and only, Vincent Billard

So, this year, for the VIRTUAL 7th Annual Cycle (and Walk!) 4 CMT, Yohan rode his e-bike across the Golden Gate Bridge, up the Marin Headlands, and back for a 20 mile ride with 2200 feet of climbing. Never would we have thought that the child who could not ride a bike due to lack of balance, sensation, and confidence would one day ride over the Golden Gate Bridge, maneuvering around pedestrians, cyclists, kids, dogs, etc… There were setbacks, spills, road rash, fatigue, but with the support of friends, family and our CMT community, he conquered. The smile says it all….and more! Thanks to all our supporters and cheerleaders – You are CMT Champions!

To learn more about the Cycle (and Walk!) 4 CMT, click here: www.cycle4cmt.com

The smile says it all!

September is CMT Awareness Month: New Quiz for 2020!

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How much do you know about CMT? Take the quiz to find out and let us know how you did! Answers at the end. Good luck! For more information on CMT, CMTA or CMTA STAR research, please visit: http://www.cmtausa.org

*Denotes explanation at the bottom of page.

1) CMT is a genetically heterogeneous disorder. What does heterogeneous mean?

a. Like the process of breaking down fat molecules in milk, CMT can be broken down into smaller particles through a high-pressure procedure.

b. Mutations in different genes can produce the same clinical symptoms.

c. A term used to explain the genius-level IQ of most people with CMT.

d. Belonging to the same family,

2) When researchers study the natural history of CMT, what exactly are they doing?

a. They are trying to figure out which components of CMT are artificial.

b. It’s all old news.

c. They are studying the progression of CMT over time.

d. They are trying to determine the origins of CMT and when it all began.

3) People with CMT often use AFOs. What does AFO stand for?

a. Ankle Foot Orthosis

b. About-Face-Onward

c. Air Force One

d. Area Financing Officer

*4) What is HNPP?

a. HNPP stands for Hereditary Neuropathy with Liability to Pressure Palsies

b. HNPP is a sub-type of CMT.

c. HNPP is most often caused by a deletion of the PMP22 gene.

d. All of the above.

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5) What is Foot Drop?

a. An abrupt 1-foot fall or slope

b. Inability to lift the foot at the ankle due to weakness or paralysis of the anterior (front) muscles of the lower leg.

c. A secret play in football when the quarterback drops the ball 1 foot from the goal line.

d. The name of a used shoe company.

6) To date, how many genes have been found to cause CMT?

a. 10

b. Over 100

c. 212

d. We cannot count that high.

7) If a child inherits CMT from a parent, will it be the same type of CMT?

a. Yes. The type of CMT does not change between generations.

b. No. CMT is variable and changes sub-types from one generation to the next.

c. Children do not inherit CMT from parents.

d. I do not know, but the child will love Country Music Television!

*8) Is CMT like Muscular Dystrophy (MD) or Multiple Sclerosis (MS)?

a. Yes, because CMT is under the Muscular Dystrophy umbrella. 

b. No. They are completely different and separate diseases.

c. No one really knows.

d. Yes, because MD, MS and CMT are just different acronyms for the same disease.

9) Anyone in the world can be born with CMT because everyone is susceptible to random or de novo gene mutations.

a. Only people in the US are susceptible to new, random mutations.

b. This statement is false.

c. I have no idea if this is true or false.

d. True

*10) If two people who have an autosomal dominant (“Autosomal” means that the gene in question is located on one of the numbered, or non-sex, chromosomes. “Dominant” means that a single copy of the disease-associated mutation is enough to cause the disease) form of CMT (like CMT 1A) have children, what is the chance that their children will inherit CMT?

a. 0%

b. 25%

c. 75%

d. 100%

*11) What is Dominant Intermediate Charcot-Marie-Tooth Disease (DI-CMT)

a. A rare, dominantly inherited type of CMT

b. Just an expression used to liken the inheritance of CMT to a roll of the dice.

c. Does not exist. Just a made up name to throw you off the right answer.

d. A type of CMT that affects people with Type A personalities.

12) Your CMT genetic test comes back negative. What does this mean?

a. No one really knows.

b. You still may have CMT. There isn’t any one lab testing for all known mutations in any one test. Moreover, not all genetic mutations underlying CMT have been found or can be detected with a DNA test.

c. A negative result rules out CMT since all sub-types of CMT are easily recognizable.

d. Retake the test 5-6 more times to be sure of the results.

13) What does the CMTA’s research initiative, STAR, stand for?

a. Strategy to Accelerate Research

b. Strategy to Advance Rats

c. Situation, Task, Action Result

d. Sewage Telecommunication Access By Robot

14) Although there is no medicinal cure for CMT,  we can treat the symptoms of CMT with:

a. Exercise, physical and occupational therapy, healthy diet

b. Braces and other orthopedic devices

c. Surgery can help prevent or reverse foot and joint deformities

d. All the above

15) Since the launch of STAR in 2008, how much money has the CMTA spent on treatment-driven CMT research?

a. 1 million

b. 5 Million

c. 10 Million

d. 16 Million

Answers

  1. b
  2. c
  3. a
  4. d
  5. b
    • The ankle dorsiflexors, the muscles that lift up the foot and ankle, are frequently involved in foot drop. When the Tibialis Anterior muscle weakens, the foot begins to drop down. This is usually a gradual process, occurring over months or years.
  6. b
  7. a
  8. b
    • Charcot-Marie-Tooth (CMT), Multiple Sclerosis (MS) and Muscular Dystrophy (MD) are three completely separate and distinct diseases. Remember that our neuromuscular system really starts at the brain, which is the master computer, and sends signals to the motor (muscles) via the spinal cord (an intermediate connecting cable), which hooks up to the peripheral nerves (the connecting lines between brain and muscle).
    • Muscular Dystrophy is a disease of the muscle itself, which causes weakness of varying degrees. There are many forms of MD. Sometimes the heart is involved because it is a muscle too. The lungs can also be affected because the breathing muscles are weak (similar to CMT, although in CMT it is because the phrenic nerves are affected, which in turn weakens the diaphragm, the main breathing muscle).
    • CMT is primarily a disease of the peripheral nerves (the connecting lines between brain and muscle). CMT causes weakness and impaired sensory perception because the signal can’t get to and from the brain to muscle and skin, among other things. The muscles shrink because they aren’t getting the proper signals, but the muscles themselves are not directly diseased per se.
    • Multiple Sclerosis is a disease of the brain and spinal cord. It can affect both movement and sensory perception and sometimes thinking processes.
  9. d
    • There is a 75% chance that they will have a child that is affected.  Broken down, there is a 50% chance that the child will get the duplication from one or the other parent, a 25% chance they will get it from both parents (i.e. for CMT1A they will then have 4 copies of the PMP22 gene), and a 25% chance they will not inherit CMT and have the normal copy number of PMP22.  We have seen a few cases of kids that have inherited 4 copies of the PMP22 gene and they seem to be more significantly affected than their parents, but we have not looked at this longitudinally because it is rare. (Answered by Shawna Feely, CGC)
  10. c
  11. a
    • CMT-DI takes its name from the nerve conduction velocity (NCV), which is considered intermediate. The nerve biopsies from patients with DI-CMT have shown both axonal degeneration as well as demyelination. Dominant mutations in the genes DNM2, MPZ, and YARS are associated with DI-CMT types B, D, and C, respectively.

12. b

13. a

14. d

15. d