Month: March 2017

Here We Go Again – Déjà Vu?

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Second Surgery, Same Foot

I started writing this post last night, as a way of  getting my feelings out and on “paper.” But, the more I wrote, the worse  I felt. I shut down my computer and used my “call a friend” coupon. When feeling blah, I usually hide in a shell, stick my head in the sand, curl up in a dark corner. This time, I chose to change things up a bit. “Hey Bethany, Got a few minutes?”  After ranting on and on for a while, I was able to balance out my thoughts and get neutral;  I may have even sensed a twinge of positiveness, a crack of light in a darkened room.

Here is what I wrote before speaking with Bethany:

In June of 2016, Yohan had reconstructive surgery on his left foot. From the get go, he had more than his share of issues.

  • The nerve block wore off quicker than expected, and his pain spiraled out of control.
  • The day after surgery, he waited for hours and hours, in unbearable pain, at the local ER. After a 6 hour wait, he was called back, examined and admitted. Joint, bone and nerve pain continued to be prevalent at least 6 – 8 weeks after the surgery.

  • Once he was put into a walking boot, pressure sores developed on the bottom of the foot.

  • We made numerous trips to San Francisco (45-minute drive….. one way) to have orthotics made, adjusted and readjusted, and readjusted again to take the weight off the ball of the foot where the sores thrived. No go. They hung around, uninvited, like ants at a picnic, and threatened to multiply should he decide to put any pressure at all on that foot.

  • Every time the sore healed, it reopened when he tried to walk. He’s been off that foot, on crutches/ knee scooter,  for 9 months (That’s enough time to get pregnant and produce a little person).
  • For reasons unknown, the first surgery failed (except for the tendon transfer, which worked amazingly well).
  • After several trips back and forth to Los Angeles, where Dr. Pfeffer practices, it became obvious that a second surgery on the same foot was a necessity. There will be more bone cuts, tendons transferred and lengthened, heel realignment, toe fusion, and straightening.
  • Surgery is tomorrow, Wednesday, March 29. We are all anxious, want it to be over, but especially successful. He wants to simply walk, one step in front of the other. Is it too much to ask?

After my conversation with Bethany, where I released the pent-up negativity, I was able to open myself up to more positive energy and look on the bright side. During the past 9 months:

  • Yohan got to play A LOT of computer games.
  • .
  • He received tons of gift baskets (and money) from his grandmother.                                                                                                                                                                 
  • He had the time and focus to apply and be accepted to graduate school in the fall.
  • He gained work experience as a CMTA intern.
  • Gilles and I were able to do a few short trips because he “volunteered” to take care of our high maintenance cat, Tortellini.

wawa

  • He rediscovered a childhood friend, and their friendship has taken hold and blossomed. (No Eva, he does not have CMT).

V and Y

Vincent and Yohan

 

  • He did not have to make his own meals or do his own laundry for the past 10 months.
  • We played games as a family and enjoyed each other’s  company.
  • Yohan now embodies the word – patience.
  • We had time to devise schemes and play practical jokes on Gilles ( for example, we put no tear toilet paper in his bathroom-hahahahaha)

Dr. Pfeffer has spent the last several months investigating what went wrong. He solicited second, third and fourth opinions from the world’s best orthopedic surgeons. He’s admitted that things can go wrong the first time around, “…but there is no margin for error the second try”. He’s done his homework, knows what he’s going to do and is proceeding with confidence. We are in good hands. We just have to remember to remain patient, determined and positive. And when you can’t stand it anymore, pick up the phone and call a true and trusted friend. The results can be mood-altering!

Elizabeth, Bethany and Jeana

Tomorrow, Dr. Pfeffer will perform an operation to straighten Yohan’s foot. Here are a couple of very cool images:

  1. View from Side- not too shabby.

   

3-D CT Scan                                                                         Photo of same foot

 

View from back- out of whack.

 

        standing

As you can see, there is much work to be done.

Fingers and toes crossed!

 

CMTA: Turning Science Into Therapies

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CMTA Board Chair, Gilles Bouchard, explains STAR.

On Saturday, March 18, the CMTA put on a Patient/ Family Conference in collaboration with the University of Miami. We had a wonderful turnout, with people from all over the world in attendance. Gilles Bouchard, the CMTA’s Board Chair, explained progress to date on CMTA-funded research. I wanted to share my notes with You!

 

 

In 2008, the CMTA’s Board of Directors launched STAR, or Strategy to Accelerate Research.  It was based on two important ideas:

Idea #1: Causes Are Known

We know the causes of many types of CMT. The big breakthrough was in 1991 when the gene PMP22 for CMT1A was discovered. Today 90 different genes have been identified as causing CMT and more and more types of CMT are being discovered each year. This is the foundation of the STAR strategy because if we know the cause of the disease, we can duplicate it in the laboratory. It is often said that “a problem that is well stated is half resolved,” and this is the case for CMT, unlike most other diseases where causes are either unknown or very complex.

Gilles

  

Idea #2: Manage Research According to Sound Business Principles.

STAR is based on 5 core business principles:

  1. a) Strategy: based on knowing the cause of the disease and what to focus on.
  2. b) Our team finds the best researchers in the world and asks them to implement the projects to support our strategy, unlike most foundations who fund the best projects which are presented to them.
  3. c) Accountability is not the most prevalent value in the world of research. We hold our researchers to their goals. We take your money very seriously. Our researchers are not fully paid until they fully deliver.
  4. d) Collaboration: researchers still tend to work in silos. They are experts in one domain and have one focus. To solve CMT, we bring people from different fields together so that they work collaboratively. We are now seeing more and more technologies and therapies emanating from many different fields of study.
  5. e) Partnerships: developing a new drug is not inexpensive. It costs between 400 million to 1 billion dollars to bring a new drug to market. The CMTA does not have this kind of money. We have to work with those who have the money to develop the drugs – big, strong pharmaceutical companies. In the end, they will carry the ball over the line for us.

 

Our Strategy. There are 5 keys elements to our strategy:
1) Assays. Assays are tests. We recreate CMT in Petri dishes. And then with high throughput screening or HTS, we test hundreds of thousands of drugs. This gives us a way to see if the medications tested have any effect on CMT. We are looking for hits. What are hits? Hits are drugs that have a positive effect on CMT.

assays

 

2) Animal Models.  Once we have promising hits, we then test them on laboratory animals. From millions of potential compounds, we can narrow it down to a few of the most promising compounds or drugs.

rats

3) Stem Cells: We take human skin samples and put them through a stem cell process to create Neurons (nerve cells) or Schwann cells (which make myelin). This way, we create assays that better represent human biology. We have good models for CMT1A and have been successful with CMT type 2.


4) Partners: For CMT1A, we’ve tested millions of compounds and with the help of a major pharmaceutical company; we have several promising compounds which need to be fine-tuned for humans. With the assays, animals, and tests, we’ve created a “toolbox” for anyone who has new therapies for CMT. They can come and work with us and test them, including new technologies that may be from other domains. We can get solutions from the entire medical field. For example, 4 different drug companies who work on many different diseases reached out to the CMTA in the past couple of months alone to discuss potential therapies.

5) Clinical Trials: We are working to get ready to conduct clinical trials and develop outcome measures – how do we measure whether a drug is effective for CMT or not? See further for more details

How do we work?
We created an advisory board with top-notch researchers. The Scientific Advisory Board has 14 world class scientists. The work of STAR is not only about science, but about turning science into therapies. Another way of saying turning science into therapies is translational research. So we created the Therapy Expert Board (TEB) – a group of experts that tell us how good the science is in terms of turning it into therapies for those with CMT.

More recently, we realized we had to get ready for clinical trials and a lot of partners were coming to us for advice on how to design clinical trials and outcome measures. So we created a 3rd board, the Clinical Expert Board (CEB), where we brought together a set of world-class experts, who are helping us help our partners think about how to design clinical trials.
We have come a long way since the inception of STAR in 2008. Over the last 2 years, the CMTA has financed 40 active projects and spent 3.5 million dollars on research. We are spending your dollars wisely and in a very focused manner. We are spending 10 times more on research than when we initially started. Success breeds success. Thanks to the support from all our donors, there is huge momentum and promise.

 

 

CMTA Research Update by Disease.

 

CMT1A
Over the past 7-8 years, we’ve done animal studies, performed HTS, got hits and worked with a company called Genzyme. Today, we’ve narrowed it down to 2 families of compounds which are being fine-tuned in the lab. Genzyme uses a traditional, small molecule pharmaceutical approach. The entire biotech industry is based on an approach where you create biological living proteins and go directly after your target.

In parallel, another company came to us with a very different approach using RNA interference. RNA interference uses little pieces of DNA to get into your nerves and affect the way the cells creates the protein which overexpresses PMP22.  We’ve seen promising results in rat testing. This technology is currently used in 2 approved drugs on the market.

 

CMT1X

CMT1X is the second most common type of CMT. Researchers have identified a relationship between CMT1X and inflammation. We’ve identified the source of this inflammation and we are going after therapies to target this source. The approach comes from cancer research! Another approach is gene therapy: In CMT, there is a problem with small pieces of DNA, so you can send the right DNA via a virus into the nerves, replacing the wrong DNA. We are also investigating gene therapy for CMT4.

 

CMT1B

We have good assays and mouse models. We’ve also had several hits and potential compounds. As in CMT1X,  inflammation may play a role in CMT1B, so CMT 1X research might help CMT1B.

CMT2A

We’ve patented a rat model and have seen promising results using stem cells.  We will also complete a small screening of FDA-approved drugs this year.

CMT2E

We have stem cell assays and good animal models. Testing will commence soon.

Clinical Trials-How You Can Help

 Every person with CMT has a big role to play. There are currently 20 Center of Excellence in the US and abroad. You can help by joining our patient registry. Clinicians need as much data on as many patients as possible to help drug companies conduct successful trials. We are also developing “outcome measures” to be able to see the effect of a drug as soon as possible so that we are able to keep the trials short and inexpensive. The traditional CMT test scores require too much time to show if a drug is working or not,  so we are looking at various “biomarkers” such as fat content in calf muscles or certain chemicals in the blood.

To participate in CMT research studies, please join the Patient Registry https://www.rarediseasesnetwork.org/cms/inc/registry

You do NOT need to know the exact type of CMT you have to join this registry. And everyone in the world who has CMT can join!

 

 

The Inside Scoop: The Real Story Behind Bethany’s Book, “How Should a Body Be”?

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One day about 7-8  years ago, I get this random call from a young woman from Michigan. She wanted to volunteer with the CMTA. “Sure!”, I said enthusiastically. “We are always looking for volunteers-ALWAYS!”  Now, compared to my loud, overly animated voice and my quick speaking conversational style, my new friend, Bethany, spoke slowly, methodically and in whispered tones. She actually takes a moment to think before she spoke – a new concept for me.

She wanted to volunteer for CMTA but she was about to have foot surgery, and she assured me that she’d get back to me during or after recovery. I had no expectations, but she did indeed get back.  From this day forward, our friendship blossomed. I crept into her life like mold, and now, she’s never getting rid of me. We are stuck together like velcro.  She moved to London last year, probably hoping the distance would give her some space-WRONG. We talk frequently, Facebook tons, and I’ll be seeing her next week in Miami.

Following her then boyfriend, Josh,  to the Bay Area, California (a joke you’ll understand once you’ve read Bethany’s book), we got to know each other well. She really is not as quiet as you think when you first meet her. In fact, she’s quite chatty and holds her own in debates. From a shy, soft-spoken teen, to a master in digital communications, a successful fundraiser and a moving motivational speaker, Bethany has become a well known and loved figure in the world of CMT.

At 25, Bethany has published her first book, How Should a Body Be? which gives an intimate, honest and heartfelt portrayal of what it is like growing up with different abilities.  She’s a wonderful writer and I am in awe of her strength and “determination”  (I prefer the word stubbornness, but  Bethany’s not thrilled with that word). Here are my thoughts on Bethany’s memoir:

Bethany Meloche’s thoughtful memoir—“How Should a Body Be?”— recounts the life story of a strong-willed young woman with a never-give-up, never-look-back stance to being alive in this world. In a culture that places so much emphasis on physical perfection, many are dissatisfied with their appearance and obsess over achieving unrealistic standards of beauty and fitness. Compound these everyday societal pressures with a progressive neuromuscular disease like Charcot-Marie-Tooth—which causes foot deformities, muscle weakness, tremor and breathing difficulties—and growing up with confidence and assurance becomes that much more arduous.

With wit and humor, Bethany relates the challenges of living in a world where people’s well-intentioned, but short-sighted commentary and feedback inadvertently amplify her feelings of self-doubt, uncertainty, and isolation.

Driven by a lust for knowledge and unquenchable curiosity, Bethany lives each day to the fullest, making her story both unique and inspirational. It would have been easy for Bethany to surrender, to lose hope, to fall into the depths of despair and depression, but by turning her anger outward she discovers strength, willpower, connection and success.
“How Should a Body Be?” is a personal journey toward self-acceptance, healing and living life to its fullest, despite apparent limitations. Mature beyond her years, Bethany offers nuggets of wisdom to be shared, pondered and cherished. Honest, truthful and profoundly insightful, this book is for people with CMT, their families, their friends and anyone who struggles with self-image, confidence and the fear of being seen. This is the best book to date on growing up with physical differences, obvious or not.

 

Bottom line: Buy it. It’s that good. Buy it here:  http://amzn.to/2lBC9cz

Still not convinced? How can you say “no” to this cute face?

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