“I Can’t Walk, but I Can Talk” — CMT simplified

When people ask about what J “has”, I say “a severe neuromuscular disease.” I don’t mean to be vague, but it’s complicated. This is my attempt to make it simple.

The Big Picture

I can’t walk, but I can talk.

— Julianna, age 4

Julianna resembles a 5 year old with ALS (Lou Gehrig’s disease). She has progressive, profound weakness, but her cognition is unaffected.

The Disease: Charcot-Marie-Tooth

Julianna’s disease has a PR problem. With apologies to Drs. Charcot, Marie and Tooth, the name is awful. No one knows what it means, it’s cumbersome to spell and it suggests a dental issue. And the acronym? Try googling “CMT” – you have to get to the third page before you get something other than country music.

Sept 2015. CMT on CMT. After all, J was born in Texas...

Sept 2015. CMT on CMT. After all, J was born in Texas…

This is CMT in a nutshell.

  • Charcot-Marie-Tooth is named after 3 neurologists who first described the disease in the 1880’s.
  • It is a hereditary neuropathy.
  • Neuropathy means that there is a problem with the peripheral nerves.
  • What are peripheral nerves? Your brain and spinal cord make up the central nervous system. Everything outside of this is the peripheral nervous system. Nerve roots come out of the spinal cord (when those get squished, they cause a “pinched nerve” in the neck or back.). The nerve roots branch and branch and branch. They go all the way to the toes and the fingertips. These are the peripheral nerves.
  • Problems with the peripheral nerves can cause sensory changes (i.e., numbness, tingling, pain) or weakness – or both.
  • There are over 70 identified forms of CMT, and new ones are being discovered every year. This is because a lot of different genes code for our peripheral nerves.
  • CMT can be diagnosed with a blood test – sometimes. Commercial gene testing exists for a few dozen types. Research labs are working on identifying rare or new types.
  • Treatment for CMT is supportive – meaning, you treat the symptoms but cannot cure or stop the disease.
  • CMT can be funny. Sometimes it is really mild in one generation, and really severe in another. Which brings us to…

Our Diagnosis

This is Steve’s foot. I always thought that his feet were funny looking.

IMG_2126

Steve has high arches, which is a sign of peripheral neuropathy. Steve is active and athletic, so I had no reason to suspect a problem until we started searching for J’s diagnosis.

DSC00267

Spring 2012. At around 18 months, J could walk short distances in a walker.

One afternoon when J was almost 18 months, I decided to check Steve’s reflexes. His arm and knee reflexes were normal. I checked the ankles, and they were – not there. This was definitely not normal. Decreased or absent deep tendon reflexes are another sign of peripheral neuropathy.

I think that this was the moment I knew. For months, I had been thinking of things that would cause J’s symptoms. CMT was on the short list, but there was no known family history.

A few days later, I brought Steve into my office and did a quick nerve conduction study (NCS). This is not the most fun test : electrodes are placed on the legs and arms, and some pretty big shocks are delivered. It measures the speed and size (amplitude) of nerve conduction.

NCS

NCS

In the legs, nerve impulses should travel at least 40 m/s. Steve’s nerve conduction in the legs was not recordable.

In the arms, nerve impulses should travel at least 50 m/s. Steve’s nerve conduction velocities were in the 20’s.

If there was any doubt before, it was gone at that moment. Steve had CMT. Julianna must have it too.

Things came together pretty quickly after that. I took Julianna to a pediatric neurologist. Her NCS showed velocities of about 10 m/s in the arms. She and Steve had genetic testing done for the most common mutations that cause CMT – it was negative.

As mentioned, commercial gene testing only identifies the most common types of CMT. Shortly after Julianna turned two, we visited Dr. Michael Shy, a CMT expert, in Iowa. His team helps find new and rare cases. They suspect that Steve passed on a gene mutation that causes very mild disease. Julianna probably has a second mutation that makes her disease severe.

For the last three years, researchers around the world have been trying to figure out what gene mutation(s) have caused Julianna’s disease. They have some ideas, but nothing definite. Like I said, it’s complicated.

Moon-179

June 2015. Photo by Aubrie LeGault, Capturing Grace Photography

5 thoughts on ““I Can’t Walk, but I Can Talk” — CMT simplified

  1. Thank You Michelle, Steve, Alex and Julianna for sharing your CMT struggles with the world. I also have CMT and so did my father and grandfather. It has been in my family for generations and a secret. Most people never even knew what was wrong with me and my brother and why we walked “funny.” I decided to let a film producer film my life and my daily struggles living with CMT as well as watching your other family members suffer too. They filmed me for 3 1/2 years in 2012 we had showings all over the U.S. and still continue to spread the word on the film and CMT. Please check out my story and the film at http://www.BernadetteCMTmovie.com I am so inspired and touched by your story and how brave Julianna is at such a young age and I am praying for you all now and always. Tell J she’s my CMT Sister forever and I will continue my fight for her and all of us with CMT!!
    Love and Light….
    Bernadette

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  2. My heart goes out to you and your family. You have a big CMT family hoping and praying for you Julianna and you are our little princess warrior!
    Love from a fellow CMTer from Minnesota

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  3. Thank you for sharing this story. When you said “They suspect that Steve passed on a gene mutation that causes very mild disease. Julianna probably has a second mutation that makes her disease severe,” I instantly thought about my situation. My son passed away from undiagnosed Type I Diabetes May 3, 2015. Caleb complained of a stomach ache and when I went to get him ready for the hospital, he was unresponsive on my bed. He was rushed to the hospital but went into cardiac arrest and died. I have been reading on what could have caused and I have been told it can happen to anyone after a virus or it could be genetic. My husband tends to be hypoglycemic at times, which is a blood glucose problem. We just did a research study to see if we could be carrier for type 1 but your story makes my story seem a little more “senseful.” If my husband had a mild version of a gene mutation and Caleb received the same one but only mutated even more, I can live with that. I least I know what happened. I just wished we could have figured this out sooner. More could have been done. But maybe this is just the way its suppose to be.

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