You Look Perfectly Fine

Team CMT at Bike New York

"I can be changed by what happens to me. But I refuse to be reduced by it."- Maya Angelou

This week I met with a rep from Senior Referrals here in Milwaukee to find an assisted living for my dad.

He's been in a rehab nursing home since July and his time there is coming to an end.  He went from being fairly independent to now not being able to walk more than a few feet. My dad has CMT it has really accelerated. He is wearing AFO's for the first time.  His balance is a mess and he is now basically in a wheel chair. The therapists are saying he is not going to regain any more function. This severely limits the places where we can place my dad because he needs 2 people to assist him. Much more expense and very few options. It is all so heartbreaking because he feels really good and just wants to go home. This is also tough for me because I am most like my dad genetically. I share his CMT and asthma. I have the same problems swallowing.  When I look at my dad, I see myself in 30 years.

During the course of this process I've had to explain  my dad has CMT. Of course no one has heard of it. I share a bit with them about CMT and that it's genetic condition I share with several family members. The rep from Senior Referrals told me, "You look perfectly fine."

Yes CMT is an invisible condition for many of us. I liken it to a house with termites. It looks perfectly fine from the outside.  CMT affects even someone like me that can still run. I've have even been told there is nothing wrong with me because I run marathons.

Everyone who thinks I look fine, should pay my doctor bills for one month. Staying healthy enough to be active with CMT is a constant battle. I am doing great, but I have challenges. I wish people who say I look fine could see me when I have to go to bed at 6pm because I am so exhausted. It happens all the time.

Because no one has ever heard of CMT but everyone knows about MS, I often explain it is like MS. Not quite but it is a start to understanding and awareness of CMT.  When I explained about my CMT to the Senior Referral Rep, I handed her a pen with my run4cmt website.  For her and anyone else that wants to learn about the difference between CMT, MS and Muscular Dystrophy I am posting the following piece.

I adapted this piece posted in the CMTUS Facebook site. I added a bit of information on CMT symptoms to the fine piece written by Gretchen Glick

CMT, MD and MS - What's the difference?

By Gretchen Glick

Charcot Marie Tooth disease, Multiple Sclerosis and Muscular Dystrophy are three distinct problems within the body's neurological system.
Starting at the brain, the neuromuscular system acts as the body's master computer. Signals are sent to the muscles through the spinal cord which acts as an intermediate connecting cable. This hooks up to the peripheral nerves which are the connecting lines between brain and muscle.

Charcot Marie Tooth (CMT)  is a disease of the body's peripheral nervous system (the connecting lines). CMT causes weakness and impaired sensory perception because the signal can't get to and from the brain to muscle and skin. Muscles slowly atrophy as they aren't getting the proper signals but the muscles themselves are not directly diseased. The problem lies in the nerves.

Symptoms and Characteristics

• Frequent tripping, ankle sprains, clumsiness and burning sensations in the hands and feet.
• Structural foot deformities; high arches and hammer toes
• Muscle wasting in the lower legs and feet may lead to foot drop, poor balance and gait.
• Muscular atrophy in the hands causes difficulty with tasks involving manual dexterity such as writing, opening jars, closing zippers and buttons.
• Abnormal sensation in the extremities and loss of proprioception is also common, and some patients experience neuropathic pain.
• Poor tolerance for cool or cold temperatures. Many with CMT have chronically cold hands and feet.
• May experience fatigue (75% CMT patients report) because it takes nerve signals twice as long to reach muscles. It is thought it takes twice the energy to do tasks.
• Additional symptoms include sleep apnea, breathing difficulties, swallowing difficulties, scoliosis and hearing loss.

There are currently 50 different genetic markers. Males and females are equally affected and present in every ethnicity. CMT does not affect the intellect and life expectancy is normal. But if symptoms are left undiagnosed or misdiagnosed, it can be fatal due to phrenic nerve atrophy, breathing and heart failure.  CMT has a prevalence rate of 1 in 2500 persons, or about 3 million people worldwide. It is considered a rare disease. Unlike MD and MS the cause of CMT has been pinpointed. Within the next 5 to 10 years treatment and total arrestment are hopefully positive.

Muscular Dystrophy is a disease of the muscle itself. It causes weakness of varying degrees. There are 9 types of MD; one in particular only affects males where the prevalence is 1 in 3000. Sometimes the heart can be involved because it is a muscle too. Also, the lungs can 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). Muscular dystrophy can be hereditary or non-hereditary. It is characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue. Affected individuals are susceptible to intellectual impairment. Dystrophic protein is found in muscle fiber membrane and functions in two ways; mechanical stabilization and regulated calcium levels. This protein acts like a spring and joins the membrane acting filaments. The main cause of Duchene and Becker types of muscular dystrophy is the muscle tissue's Cytoskeleton impairment to properly create the Dystrophic-associated protein complex. Duchene Muscular Dystrophy is often fatal in childhood and young adulthood, usually due to respiratory and cardiac complications.

 Multiple Sclerosis is a disease of the central nervous system. It affects both movement and sensory perception and sometimes, thinking processes. It is not a hereditary disease. It is an inflammatory disease of the immune system in which the fatty myelin sheaths around the axons of the brain and spinal cord are damaged, leading to demyelization and scarring as well as a broad spectrum of symptoms. The cause is unknown. Multiple Sclerosis has 4 forms, with new symptoms occurring either as indiscreet attacks (relapsing forms) or slowly accumulating over time (progressive forms). Between attacks, symptoms may go away completely, but permanent neurological problems often occur, especially as the disease advances. MS can be more common in women than men. Life expectancy of people with MS is 5 to 10 years lower than that of the unaffected The name Multiple Sclerosis refers to the scars (scleroses â€" better known as plaques or lesions) that form in the nervous system. MS lesions most commonly involve white matter areas close to the ventricles of the cerebellum, brain stem, basal ganglia and spinal cord; and the optic nerve.

The function of white matter cells is to carry signals between grey matter areas, where the processing is done, to the rest of the body. The peripheral nervous system is rarely involved. As of 2009, five disease-modifying treatments for MS had been approved by regulatory agencies in many countries. MS has a prevalence that ranges between 2 and 150 per 100,000 depending on the country or specific population. 

Chris Wodke

Founder & Manager Team CMT

www.run4cmt.com

Team CMT is a group of athletes and supporters working to raise awareness and to find a cure for CMT. We have almost 100 members in 17 states. If you wish to join us visit our web site.

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.