Ironing Out the Wrinkles of Life-A CMT Story

“These shirts look fine. Why do I have to iron them?” Yohan asked with his serious face.  As he held the shirts at arm’s length and brought them closer to his eyeballs, squinting to make out the “wrinkles”, I pointed the way to the iron and ironing board.

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Still not game, he shared an idea, “How about if I just drop them off at the dry cleaners?  Isn’t that what you used to do with Gilles’ shirts?”  Damn, that boy has a great memory, I thought.

In all honesty, I used to hate ironing men’s dress shirts. When Gilles worked in a corporate environment, I would try and try, in vain,  to produce crease-free shirts but for every wrinkle I smoothed, 2 more would appear. Obviously, I would not be the best of teachers, but once we got down to business and the drama and comedy died down, he made progress (watch the clip below).

Here’s his first try:

 

https://youtu.be/KuHQoBP_hSU

 

On a more serious note, let me give you a glimpse of Yohan’s life today.  He’s just completed his first year of Graduate School at Claremont University where he’s studying Positive Organizational Psychology.

Over the summer, Yohan is interning at a local company, Mind Garden. He’s loving it!

First Day of Work – Look at the nicely ironed shirt!

Mind Garden is an international publisher of psychological assessments, providing tools to facilitate positive personal and organizational transformation. He’s enjoying the people, the work, and the experience. On Fridays, he takes calls for the CMTA, helping others navigate their way toward finding solutions and information about CMT or Charcot-Marie-Tooth disease.

Mind Garden

It’s a joy having him home for the summer. He’s always joking, laughing and telling stories. And, I love listening to how he perceives the world around him. For example, when he looked at the ironing board, he asked why it was in the shape of a surfboard.  He is also convinced that “It is way too small for ironing. In fact, it’s so narrow, only a teensy part of the shirt fits on the actual board!.” I suggested he create a new type of board and make millions after pitching his new design to the folks on  Shark Tank!

When I showed him a new piece of artwork featuring barn owls, he pointed out how the owl heads look like sliced apples. That imagery had never grazed my mind, but he’s right! My world is changing before my eyes.

 

Apple Faces

 

I just came back from a trip to see my family in VT and to help my brother, Chris, promote the  Cycle (and Walk!) 4 CMT event (www.cycle4cmt.com). Yohan took good care of our very needy and spoiled cat, Tortellini. This cat, turning 14 in the month of September, is no easy keeper. She eats 4-5 cans of cat food per day and drinks tons of water due to some minor kidney problems. What goes in must come out! That’s right, he had litter box duty, but never once complained (that I know of, at least!).

Tortellini also has hypothyroidism, which necessitates rubbing a medication in her ears twice a day. And that’s not all…..he played with her, gave lots of loving and sent me photos /videos to prove she was still living, breathing and pampered!

Tortellini

Lastly, out of sheer frustration, he’s earnestly attempting to organize me, but that’s a ginormous job. It’s definitely not a summer project because it takes a lot of time for new neural connections to be established in the brain. A lot of time….years even.

Nevertheless, I’m mostly enjoying the experience which is creating more mindfulness in my life – I’m living in the now, and thinking less about “what’s next.”  If you asked Yohan, he’d probably tell you that my progress is painfully slow but baby steps in the right direction are better than regression (which will inevitably happen sooner or later.)

 

Regarding his surgically-altered foot, he’s doing pretty well. His foot is still very sensitive and the nerves continue to be fussy, but he’s more mobile than ever before. He has drop foot on the foot that was not reconstructed, so he walks heel-toe, slap, heel-toe, slap, heel-toe slap. He’s adapted to this new gait and is in no hurry to have a third surgery. He is happy just the way he is, which is all that really matters.

The only big plans we have for the summer are going to Vermont to participate in the Cycle (and Walk!) 4 CMT on August 26, 2018, in Charlotte, VT. He’ll be walking in the event and raising money to advance CMT research.

Yohan and Uncle Chris

I am so proud of Yohan. I know in my heart he is resilient and will find ways to surmount obstacles that try to block his life path. In fact, while I was away, he discovered the wrinkle free setting on the dryer….smart kid! No more ironing, no more wrinkles!

He also knows that his family and friends stand strong and are fighting this degenerative disease beside him. And by getting involved with the CMTA, he is advocating for a world without CMT. For this, I am extremely grateful.

Well, I guess I’d better stop here. My personal assistant just asked me to put my keys where they belong and to throw the empty cat can and lid in the recycling-after it is rinsed out, of course.  Apparently, I’ve been slacking!

 

CMTA STAR Research: Did You Know?

Neurologist: Well, he has CMT and yes, it gets worse over time.

Me: Silence

Neurologist: There is really nothing much you can do about it.

Me – Silently feeling FREAKED OUT!

Neurologist: Young man, at the beginning of the game, you are dealt a specific hand of cards. Some people receive a great hand, and others, well, others get cards that kind of suck. In the end, it does not matter.  Life is not successful because you hold good cards or bad cards. It’s what you do with those cards that will make or break you.

Me- Silent, trying to figure out why he was talking about a game of cards.

Neurologist: I’ll see you back here in a year.

Me: Silent, thinking that wow, we came for a diagnosis and we are leaving with an intro to philosophy.

That evening, I looked through the handouts he shared with us and I came upon the URL of the Charcot Marie-Tooth Association or CMTA. One thing led to another and I’ve been heavily involved ever since. Looking back over the past 15 years, I’m in awe of what we’ve accomplished: an abundance of CMT resources, branches, patient advocacy efforts, CMT awareness programs, and a promising research program-Strategy to Accelerate Research or STAR.

Today, I’d like to expound upon STAR.

 

 

Highlights

  • In 2008, the CMTA launched STAR or Strategy to Accelerate Research which was innovative and unique at the time because we required scientists to work together and collaborate to advance CMT research. No more silos. No more individual superstars. No more “me” and a lot more “we”.
  • Since many of the genes that cause many types of CMT are known, the CMTA’s work toward finding a treatment has advanced that much quicker.
  • Clinical planning has started! With the Inherited Neuropathies Consortium (INC), the CMTA is developing crucial clinical infrastructures: new centers, more clinicians, patient information, and history. Get involved with CMT research: https://www.rarediseasesnetwork.org/cms/inc/

 

  • We are developing ways to measure disease progression (biomarkers) in people with CMT (this is important to see if a treatment works or not). The CMTA’s STAR has developed and is using cellular and animal models of CMT to help pharmaceutical companies test their drugs quickly.
  • We have partnered with pharmaceutical companies and labs to apply breakthrough genetic therapies (like gene therapy, RNAi, and CRISPR) to CMT.

Today- The Bottom Line

  • The CMTA currently has 25+ active research projects with top labs around the world.
  • Since 2009, we’ve spent over $8M to advance CMT research.
  • We have 25 world-renowned scientists on our Scientific Advisory Board (https://www.cmtausa.org/research/star-advisory-board/).
  • We have partnership agreements with about 20 pharmaceutical, biotech and service companies across three continents.
  • They are using state-of-the-art technologies (CRISPR, gene therapy, gene silencing, axon, and muscle regeneration) and are working with the CMTA to use the assets we’ve developed through STAR.
  • We have 26 CMTA Centers of Excellence, so the infrastructure for upcoming clinical trials is ready to roll. (https://www.cmtausa.org/resource-center/finding-help/cmta-centers-of-excellence/)
  • We will continue to include more and more types of CMT in our research work.
  • And we have forged relationships with many, many families with CMT. You will have a role in drug discovery. It’s a group effort.

 

 

 

 

 

What Now?

All the major elements are in place and we are giving it our all to bring treatments to people with CMT. We estimate “kneading” $10,000,000 in the upcoming years to help bring CMT drugs to market. Why?

Bringing a new drug to market costs between $400 million and $1 billion. And that’s a lot of dough!

The CMTA does not have this kind of money. And I sure don’t either. But, as I wrote above, pharmaceutical companies are reaching out to us. They want to collaborate with us because our scientific work or assets are superb.  In the end, they will carry the ball over the line for us. That’s why we are so excited that the number of partners has exploded in the past 2 years from a handful to about 20.

So, if you want to be part of these very exciting times:

-Donate to the CMTA (https://www.cmtausa.org/donate/make-a-donation/)

-Participate in a CMT Walk or Fundraiser (https://www.cmtausa.org/upcomingevents/map/)

-Fundraise for the CMTA  (https://www.cmtausa.org/fundraise-for-a-world-without-cmt/

 

 

-Register/Attend/Underwrite my family’s annual fundraiser – The Cycle (and Walk!) 4 CMT event (www.cycle4cmt.com).

http://www.cycle4cmt.com

Sponsor me – Elizabeth Ouellette-  in the Cycle (and Walk!) 4 CMT fundraiser, which is taking place on August 26, 2018 in Charlotte, VT.  Every dollar invested in the Cycle (and Walk!) 4 CMT event is dedicated to advancing CMTA Research toward finding a cure. (https://cmta.akaraisin.com/pledge/Participant/Home.aspx?seid=16550&mid=9&pid=3311373)

Now, play your cards right and play them well. Get Involved. Get Sassy. Get a Move On. The future is OURS!

Cardboard Yohan and me!

 

 

 

 

 

 

 

 

If you have questions, email me: elizabetho@outlook.com