CMTA’s Gene Therapy Program Focused on Treatments for CMT

This is a transcript of the CMTA’s recent STAR gene therapy webinar. CMTA Board Chairman Gilles Bouchard begins by giving an overview of CMTA’s research initiative – STAR (Strategy to Accelerate Research), followed by an in-depth review of our gene therapy program by Drs. John Svaren and Kleopas Kleopa, members of our Scientific Advisory Board. These world-renowned researchers will explain what gene therapy is, how it can be used to advance treatments for CMT, and cover the latest advances from the STAR program. This webinar will also explain how we are preparing for clinical trials for many types of CMT.

STAR stands for “Strategy to Accelerate Research,” and it’s really core to the CMTA’s mission: our role is to accelerate treatments for CMT. In this work, we are driven by you and powered by you, the CMT community. You provide more than 80 percent of our resources, so, in essence, STAR is really your program. STAR is for you, and by you.

When we started STAR over 10 years ago, we really wanted to take a business approach. We wanted to bring the rigor, the focus, the accountability that you have in a business.

When you run a business, the first thing you do is try to figure out your strengths and your weaknesses, and the best strategy to be successful.

Taking drugs to market is a tough business, and it takes well over 10 years on average to develop a drug. Most new drugs fail in clinical trials. And it costs hundreds of millions of dollars. So how do we make this attractive to partners? How do we accelerate research?

  • One of the most attractive things about CMT is that for most types we have very well-defined genetic causes. CMT is what the scientists call a monogenic disease, which means we can replicate and test this disease in the laboratory.
  • There are also a lot of new therapies and technologies to address genetic issues. And those play right into what CMT is as a disease.
  • Biotech companies once looked at CMT as a slowly evolving disease, which would therefore require very long and very expensive clinical trials. If anything, this has been the biggest inhibitor for pharmaceutical companies to get involved in developing drugs for CMT. So more than 10 years ago, in partnership with the Inherited Neuropathies Consortium (INC), we embarked on a major effort to develop what are called biomarkers, and also to develop an important clinical infrastructure so it would become much easier, faster and cheaper to run clinical trials on CMT. We have made tremendous progress there. And this barrier is really starting to crumble.
  • Finally, from a business point of view you may think being a rare disease is a disadvantage, but because of the laws in the US and in Europe, it is actually attractive for companies to work on rare diseases. There are some advantages for businesses on the tax side and the protection of intellectual property.

So, if attracting partners is the core of our strategy, how do we make CMT attractive to partners? We need them because even though we’ve raised a lot of money from this community, we don’t have the billions of dollars it takes to develop drugs. In working with partners, we found that there are five key things they look for.

  1. The first one is what they call KOLs (Key Opinion Leaders) or experts. In general, companies are experts in drug development, but they don’t know CMT very well. So they want to engage with CMT experts. That’s why we built our incredibly strong Scientific Advisory Board with over 30 great scientists.
  2. The next thing they want is the ability to test in the lab, what we call preclinical tests. This is how drugs are developed, and we spent a lot of effort building a very broad, very powerful preclinical testing infrastructure. When they contact us and see what we’ve developed thanks to your support, they tell us that they feel like kids in a toy store!
  3. The third one is clinical trial readiness. This was a major inhibitor for CMT research and for companies. But again, we’ve made tremendous progress, and we feel that we can run much shorter clinical trials.
  4. That’s great on the medical side, but companies also want a strong, reliable and trustworthy business partner. What we found is not all companies are the same; they want different things. So we have to be flexible and adapt how we work with them on the business side based on what they need. Some companies, for example, are early stage companies that need money so we do co-funding with them. But others are loaded with money and they are looking more at licensing or buying technologies that we’ve developed with our partners. Other companies are looking at raising money, so we help them and engage with their potential investors. We have a lot of people with business experience on our board, and we really try to leverage this to help companies be successful on the business side as well.
  5. Last but not least, what’s really interesting is that companies are very interested in engaging the CMT community, especially as they get closer to the clinical treatment of patients, because ultimately the CMT community is their market. So they want to know the impact the disease has on the patient community. Moreover, engaging patients is becoming very important as part of the approval process of drugs. In Europe right now you have to partner with a patient advocacy group to get a drug approved. And in the US the FDA is doing more and more of the same thing. So the fact that we can reach tens of thousands of CMT patients and that we have this really vibrant CMT community is a great asset for us and really attractive to our partners.

Now may ask, how is this working? We just put a few numbers together, and thanks to your support, we’ve made tremendous progress. We also realize that we have a lot of work left to do, but we feel like we’re in a really strong position right now.

  • We have a expert Scientific Advisory Board.
  • We have about 50 active projects, by the end of the year, we’ll have invested $15 million in CMT research.
  • We have developed really helpful testing tools for all major types of CMTs that our companies are using.
  • As a result, we now have 25 industry partners. That’s a really important metric—the one thing that makes us the most hopeful about the future. A few years ago we just had a handful of partners and it was hard to bring them in. Now people approach us all the time because they want to work on CMT with us. They want to use our tools and infrastructure. And you can look at these numbers, these 22 joint preclinical studies. Those are 22 actual studies that people are running this year using our infrastructure. Now, last year, this was only a handful. So in business terms I think we are seeing a bit of an inflection point: you invest and you work hard for a few years, and all of a sudden your business starts taking off. That’s what we’re seeing right now in CMT research. A lot of things are starting to accelerate!
  • And then we have this really wonderful, vibrant community—all the CMTA branches around the country and the CMTA Centers of Excellence. This has created a very powerful and helpful infrastructure, not just for us as a community, but also for our partners as well.

When we look at where to invest in STAR, we try to look at leverage points. So there are a lot of areas where we invest that cut across all CMT types or many CMT types.

  1. We already talked about the testing infrastructure that we’ve developed that cuts across most types of CMT.
  2. We will cover and go in depth today into gene therapy.
  3. We’ll cover biomarkers as well.
  4. Another area that’s quite interesting but we’re not going to cover as much is Axon Degeneration. It turns out that a lot of companies are working on ways to prevent nerves from degenerating for a broad set of neuropathies. And they want to use CMT as one of the rare disease indications for this. These companies are working with us now to try to find ways that to slow down or even stop the damage to nerves with some of their drugs.
  5. Finally, you’ll hear about all the great progress on gene therapy. Obviously to apply gene therapy you need to know which genes to fix. So we’ve really doubled down on trying to find more CMT genes.

This is an overview of what we do across all types of CMT. Dr. Kleopa and Dr. Svaren are going to focus on a couple of them today, but keep in mind that while we won’t cover everything we do today, we have very thorough plans for each major CMT type and, in general, three or four key projects which are specific to each type.

Gene therapy is the use of genes or gene editing as a treatment. This process involves the introduction of genetic material, for example DNA or RNA, into cells and tissues of an individual instead of other treatments such as drugs or surgery.

There are different types of gene therapy, including replacing a faulty gene that would be a missing or mutated gene that can be replaced by a healthy copy of the same gene, or inactivating or silencing a mutated gene that has taken a toxic gain of function—a harmful effect on the body that occurs because the gene is functioning improperly.

And finally, editing a part of a mutated toxic gene that has a harmful effect—essentially a cut and paste approach where you selectively cut out part of the gene and replace it with a healthy part of the gene. This is a technically more challenging approach than replacing or silencing a gene.

How does gene therapy actually work?

In most cases we use viral vectors (tools commonly used to introduce genetic material into cells) to deliver the therapeutic gene. These viruses are used as vehicles to package and deliver our therapeutic genetic material. They have been modified so that they’re not infectious or contagious. They have the ability to enter the cell.

Once inside the cell they will release the genetic material and that will start the production of the protein, and this will correct the defect in the cell and be a treatment for the disease.

And here it’s important to note that this will be a once-in-a-lifetime treatment, so once the virus is inside the cell and releases the genetic material, it will stay and keep producing the protein that the cell needs to function.

Now let’s look at the types of CMT so that we can understand how we can apply gene therapy to CMT neuropathies.

First of all, nerves are bundles of many nerve fibers, and most of them are wrapped in myelin. They are similar to electrical cables, as you can see in the picture on the lower left, that are made of many wires and these wires have a plastic coating.

And in nerves this coating is called myelin. It’s an insulating and protective coating that is formed by specialized cells known as Schwann cells. Myelin is very important because it speeds up the conduction along the nerves by a hundred times, like going from 3G to 4G, but also supports and maintains the nerve fibers.

So depending on whether the damage is in the Schwann cells in the myelin or in the axons, we will have demyelinating types of CMT or axonal types of CMT.

In the diagram of a healthy nerve that would for example be a motor neuron, you notice that it starts with the cell body which is located in the spinal cord, and that sends a long extension all the way to our muscles in the arms or legs. This is the peripheral nerve. All along this nerve you need to have myelin and this is formed by Schwann cells.

There are over a hundred different genes that can cause CMT neuropathies. They have various functions in the cell, and this results in many different mechanisms. If the mutated genes are mostly expressed in Schwann cells, then you have a demyelinating type of CMT because myelin suffers first. But this will eventually also destroy the axon. And if the mutations are found in neurons then we will have an axonal type of CMT.

In addition, we classify CMT neuropathies by the type of mutation and whether this is a toxic gain of function mechanism or a loss of function. And that will also determine the gene therapy approach.

So what are the potential gene therapies we can use for CMT neuropathies?

We have to address the disease mechanism described in the previous slide. For CMT neuropathies that are caused by a loss of function of the gene (this is the case with most CMT4 neuropathies and CMT1X), we have to introduce a healthy copy of the gene, so that’s a gene replacement.

For CMT neuropathies with a toxic effect of the mutation (as is usually the case with CMT1 and CMT2 types), we have to either silence the toxic gene, repair it, or modify it so that we can prevent the toxic effect.

In addition, we have to deliver this treatment to the particular cell type that needs the treatment. So for the myelinating CMTs we have to target the Schwann cells and for the axonal CMTs we have to target the neurons, so that means a different approach because the cells are located in different parts of the body.

Now that you’re all experts on CMT genetics and gene therapy, let’s outline the efforts that the CMTA has spearheaded to try to bring new treatments to the clinic!

The science of gene therapy has actually been around for a couple decades. But there were a number of safety issues that had to be addressed. What has generated a lot of excitement in the last couple of years are treatments that are FDA approved for different diseases. The specific example we want to discuss is a disease known as Spinal Muscular Atrophy (SMA). This is actually a motor neuron disease, and it actually affects the same neurons that are affected in CMT. But SMA is a devastating disease that affects infants, and until recently there was really no treatment. But there are now two new genetic therapies that have been recently approved for Spinal Muscular Atrophy.

This includes AAV gene replacement therapy using viral vectors, just as we just outlined, by a company called Avexis. The diagram above summarizes how this therapy works, again by delivering the correct gene to the motor neurons. And there’s another genetic therapy involving antisense oligonucleotides (small pieces of DNA or RNA that can bind to specific molecules of RNA and block the ability of the RNA to make a protein or work in other ways) which we’ll cover a little bit later. The good news for SMA is that there were dramatic effects with both therapies, as long as they’re administered early enough in the disease.

We’re not only grateful for these advances for SMA, but they also provide us with an avenue we can pursue with CMT because it affects many of the same cell types affected by CMT.

To take advantage of this, we convened a gene therapy workshop for CMT in the summer of 2018 to get our plans together and take advantage of a number of different advances. We invited scientists and clinicians that were involved in SMA, Muscular Dystrophy, and different types of CMTs like CMT2D and CMT4J. There are also trials going on for Giant Axonal Neuropathy, or GAN.

We have number of assets that we outlined earlier. First of all, we had previously funded efforts of Dr. Kleopa to apply gene therapy and we’ll cover these specific examples in a minute. We have also partnered with other companies using ASOs. The animal models that we have developed are very important testing systems for development of gene therapy for CMT.

Another aspect that’s not to be neglected is the fact that we need to have good biomarkers (measurable indicators of the severity or presence of some disease state) and clinical trial planning expertise, which is critical for labs that want to invest in CMT.

And then ultimately we realized that we needed to recruit some leading gene therapy experts to our Scientific Advisory Board to lend their expertise and their advice as we move forward.

These experts include, Dr. Kleopa, from whom you just heard, who’s really pioneered a lot of the development of gene therapy for demyelinating CMTs. And then we have two additional experts: Steven Gray at University of Texas Southwestern, and Scott Harper at Nationwide Children’s Hospital. They are really leaders in the field, Dr. Gray for example is already engaged in efforts for CMT4J and another type of CMT (GAN). Recruiting these experts has been instrumental in us being able to plan how we can best use CMTA investments to accelerate the development of new gene therapy treatments.

With their advice we have formed a plan essentially to:

  1. Develop a CMTA sponsored effort to target CMT2 using AAV9-based gene therapy. AAV9 has been used in other FDA approved treatments, and we decided initially to focus on the most common form of CMT2 which effects roughly 10 percent of people with CMT. This is caused by mutations in the Mitofusin-2 gene and is classified as CMT2A.
  2. Our second objective is to develop gene therapy for CMT types 1 and 4, the demyelinating forms of CMT. Dr. Kleopa’s work in this area will be covered in the next several slides. Basically we need to optimize our approaches to improve delivery of the genes to Schwann cells. And we also definitely want to target the most common form of CMT which is CMT1A using another kind of technology called RNA interference.
  3. And finally, we want to develop company partnerships that can help us actually bring these therapies to market.

On that last point, just one year after this workshop, we were pleased that our efforts met with some success particularly in our initiative to develop a new gene therapy for CMT2A. Based on studies by one of our board members, Dr. Robert Baloh, we found that there is a way to overcome the mutation in CMT2A.

We formed a partnership with one of the leading companies in the gene therapy space, Passage Bio. You may be aware of the announcement that came out a while back where we formed an alliance that will develop and test gene therapy using some of the rat models of CMT2A that were originally sponsored through the CMTA. This will be a broad collaboration, including the Inherited Neuropathy Consortium (INC), to sponsor preparations for clinical trials in CMT2A.

We should mention that we have other efforts on other types of CMT in discussion with not only Passage Bio, but with other companies as well.

We wanted to have a comprehensive approach for different types of CMT. The pie chart represents the different types of CMT ranging from the most common—CMT1A—to some that are much rarer. And the arrow around the pie chart shows the number of types of CMT that are covered under existing plans or projects, or ones that are under discussion.

We are well on our way to covering almost 75 percent of people affected by CMT with our ongoing projects, and we’re hoping that we can expand that in the future. This includes AAV delivery and many different technologies, and we’ll mention more about gene silencing and Antisense Oligonucleotides in a minute. We are trying to leverage success in one type of CMT to achieve success in other types as well.

Let’s look at two examples of gene replacement that we have developed for two representative types of demyelinating CMT neuropathies. The first one is the X-linked CMT which is one of the most common types. It’s about 10 percent of all patients, and this results from a loss of function of a gene that is important for Schwann cells.

Our strategy was to design a viral vector to deliver the healthy copy of the Connexin gene to Schwann cells. With several years of work we have shown that we can achieve a replacement of this gene in Schwann cells and, in the picture above, there are examples of an untreated and a treated nerve and you can see that the myelin structure has improved in the treated nerve. This translates also into improved function with better muscle power and improvement of the nerve conduction velocity.

This is an initial proof of principle that we can actually achieve a treatment for this type of CMT with gene replacement.

The second example is about CMT4C. It’s a rarer type of CMT but very important because it’s representative for all the recessive CMT4 demyelinating neuropathies. Like for CMT1X, we designed a vector to replace the mutated gene in Schwann cells. We showed that we can achieve the expression of the gene using this viral vector. The slide shows pictures of an untreated nerve on the left and a treated nerve on the right, and you can appreciate the improvement of the myelin structure and better preservation of the nerve fibers. This translates into improved motor performance. The muscle power is improved and the nerve conduction velocities are faster, again providing proof of principle for this technology.

Still we have a long way to go before we can reach the stage of clinical testing. We have now several lines of activities trying to optimize the tools in order to reach that stage.

Four major issues that we are trying to address include first of all the finding of the optimal viral vector. We’re focusing on vectors that have been already used in clinical trials, and selecting the best one to target Schwann cells. We also evaluate the best way of injecting these vectors that will be safe and easy to apply to patients. We want to make sure that these vectors have no toxicity—that they’re safe—and we also want to make sure they can get to the whole nerves around the body because this is what we need to correct in the demyelinating CMTs.

These issues are really crucial not only for the two types that we described before but for all demyelinating CMT neuropathies. So results from this work will be relevant for moving ahead with other types of demyelinating CMT.

We’re also focusing on optimizing the treatment for CMT1X using new and safer vectors, and we want to show that the treatment can benefit various CMT1X mutations both before and after the beginning of the neuropathy, which is a very relevant question for patients.

And for CMT4C we also developed a new vector that is safer to deliver the mutated gene and demonstrate that we can benefit the model. So we hope that this work will get us closer to clinical testing with the proof of principle that these treatments can work.

And we are very excited also to mention that this work has attracted interest from several biotechnology and pharmaceutical companies.

Although there are remaining challenges, we have confidence we can overcome them. The success achieved in CMT1X and 4C by Dr. Kleopa is actually encouraging for CMT1A, so we’re focusing our efforts to apply this technology to CMT1A, which is the most common form of CMT.

One of the reasons we have confidence in that success is due to another company collaboration with Ionis Pharmaceuticals, which uses antisense oligonucleotides (ASOs). CMT1A is a little bit different than the other types of CMT since there’s not actually a mutation of a single base but rather a duplication of the gene, so that you have excessive levels of PMP22.The work published with Ionis showed that if you use antisense oligonucleotides to suppress PMP22, you see in two different models of CMT1A a fairly dramatic improvement in the myelination. We are continuing to work with Ionis to try to perfect and refine and make more potent antisense oligonucleotides.

This success also made us realize that you can use a related technology known as RNA interference, or RNAi, to accomplish the same goal, that is, to reduce PMP22. In collaboration with Drs. Kleopa and Svaren and with Dr. Gray at UT Southwestern, we’ve just initiated a project that’s targeting the same technology used for CMT1X and 4C but that’s now targeting a model of CMT1A.

This is a three-part project where we continue to try to address the challenges that Dr. Kleopa mentioned, which is to optimize the delivery to Schwann cells, while developing and optimizing the RNA interference for PMP22, and then also trying to make this system as safe as possible by targeting this suppression to Schwann cells rather than other cell types.

Our efforts also include an exciting extension to the relatively new technology that many people have read about, which is sometimes referred to as genome editing, or CRISPR- Cas9. Many people have read articles about this and it has generated a lot of excitement in the field because this is actually a way to take mutations and actually fix them, so you really can fix the source of the disease.

This new technology is being applied and has entered clinical trials for some types of diseases, particularly for those in the blood stream where you can replace blood-generating cells relatively easily.

The extension of CRISPR-Cas9 to diseases affecting the nervous system will probably take some more time to do all the safety studies and refine the system. But we are really pleased to announce that we are partnering with one of the leading genome editing groups that has focused on axonal forms of CMT, 2A, 2E, and 2F. And we are also collaborating with a company called Toolgen which has developed an approach for CMT1A and has published some positive results.

While this technology may be a few years behind gene replacement therapy, there is a lot of excitement in this area and ultimately this will become a technology that will really spur development of novel therapies for CMT.

All these approaches depend on having good measures that can be used in clinical trials. When we talk to companies, they want to know how they can plan a clinical trial in a way that they’ll get a definitive answer relatively soon. And this has been a challenge for a slowly progressive disease like CMT. But we took this challenge seriously and we supported a number of initiatives.

Some of them have developed within the context of Inherited Neuropathy Consortium, which is partially supported by the CMTA. And there’s also been direct funding of CMTA of some of these efforts as well.

Looking at muscle MRI has turned out to be one of the most sensitive measures of progression in CMT. We are also looking at proteins in blood samples that can be used to measure neuropathy. We’ve used skin biopsies to develop other methods. There’s been a lot of work in CMT evaluation score development. And we’re also investing in wearable devices that can be used in the clinic or even at home to assess balance and movement.

The coordinated use of all of these biomarkers and outcome measures is such that we can hopefully provide companies and investors with relatively quick assessments of whether a clinical trial will be effective. And this is really crucial for those entities to be able to actually provide investment in these new technologies. Progress in this area is just as important as development of the gene therapy itself.

We covered a lot of ground in a few minutes here so let’s just take a minute to share with you how all the pieces of this puzzle fit together.

First, we learned there are two major types of gene defect: what we call “loss of function” where the gene stops working, or what is called a “toxic gain of function” where the gene starts doing something toxic to the body.

And there are three major technologies in gene therapy. Gene replacement, where you take a virus (AAV) and send a replacement gene; gene silencing, where you use technologies like RNA interference (RNAi) to interfere with the protein production; and gene editing, also known as CRISPR-Cas9.

What you see on this chart is how all the CMTA-funded projects and CMTA partners we discussed today map onto this matrix, and how the strategy we launched last year has already brought in great partners and projects across this spectrum, with more to come in the near future.

It’s also very important to be able to deliver the therapy to the right cell. For neurons (CMT type 2s), there is general optimism there because it’s been done before in SMA, for example.

But for Schwann cells (CMT types 1, X and 4), it’s a whole different challenge because you have to deliver therapy to the millions of Schwann cells which are along your nerves. So that’s why we launched this very important collaboration with Drs. Kleopa, Gray and Svaren to optimize delivery to the Schwann cells.

And finally, you have to deliver this to humans and run efficient clinical trials. This is why biomarkers are so important, and thanks to recent advances the scientists think that we can run clinical trials with fewer than a hundred patients in less than a year.

We’ve covered a lot of ground but this is not random, we are very strategic and thoughtful about where we invest and where we spend your investment.

We’re not done—there is a lot of work to left to do. And that’s why it’s important to continue support the STAR program. There are five key reasons that we ourselves support STAR.

The first one is that it is an incredibly strong program. It is recognized as the leading CMT research program. Top researchers and top companies are now calling us to work with us, and nothing could be more exciting.

We take very good care of our financials. We keep our overhead very low; 15 percent or less is our goal, and we’ve achieved that in the past two years. Most nonprofits tend to spend twice as much in overhead. Part of the reason for that, by the way, is thanks to you: because most of our resources come from the community, we don’t spend time chasing government money, big foundation grants, or running fancy fundraising events. That keeps us very efficient and very focused.

And we are recognized for this. If you look at all the independent evaluation agencies like Charity Navigator, we get very high ratings.

The other point, which is very unique to the CMTA, is that the board members—the people who actually make decisions—are also very invested themselves Over 20 percent of our resources and funding comes directly from board members, which means that the people in charge are voting with their own dollars. They put their money where their mouth is.

Finally, our strategy is based on partnerships, and our partners spend at least 10 times more money than we do. So, when you support STAR, your money gets multiplied by a big factor through the involvement of our partners.

We have all come into this for our own reasons and our involvement is very personal, but at the end we all have a role to play. Please get involved and be part of this incredible movement. At the end, this is your program, for you, and by you.

  • We have wonderful branch events and patient/family conferences around the country.
  • It’s really important to be part of the CMTA Center of Excellence network and to register with the INC. It will help our research and it will help you.
  • Because we have more partners, we have launched the Patients as Partners initiative, so you can be involved with companies.
  • There’s a lot going on, so please sign up for eNews and stay informed!
  • And remember the three Ws: you can help with work, with wealth and or with wisdom.

A big thank you to everybody. Remember: STAR is all because of you and everybody in the whole CMT community. We’re very proud of where we’re at today, but there’s a lot left to do and we need your involvement and support now more than ever before.

Therm-a-Rest Founder Offers Unforgettable Gifts to CMT Community

James Lea

It was in the winter of 2012 that we met the elderly man sitting in a bulky hospital-style wheelchair, covered from shoulder to toe with a plush blanket. Jeana Sweeney and I had flown to Seattle, WA to speak at a local CMTA branch meeting. We had just begun the presentation when a bright and lively young woman entered, pushing an old man to the front of a fully-packed room.

He put “Jim” on his nametag. Jim listened intently to our talk, not missing a beat. He even asked a few questions with his quivering, shallow voice, which betrayed an inability to completely catch his breath while speaking. He must have been around 90 years old, 100 even! And, he was obviously affected by decades of living in a body with CMT, but he forged onward.

At the end of the meeting, once  Jeana had finished her pep talk about CMT awareness and fundraising, a few people hung out to ask questions, socialize and munch on home-baked sweets!  While I was speaking to the branch leader, stuffing brownies into my mouth, I spied Jeana who was making a most definite beeline for Jim and his caretaker. Hmmmmmmmmmm…

45 minutes had passed and I was more than ready to hit the road and make our way back to the airport. Most people had left, but Jeana was still chatting away with Jim and his caretaker. As I was packing up my stuff, I overheard Jeana ask, “Have you ever thought about getting involved or giving to the CMTA?”

“OMG, really?” I thought as I struggled with the zipper on the projector pouch. “Really? Tell me she didn’t. Did she just ask that elderly man we do not even know for money? Seriously, we have to have some boundaries here. She’s great at fundraising and all, but taking advantage of the elderly is not right!” I made a mental note to talk to her as soon as we were out of earshot.

On the way back to the airport, I expressed my concern. Jeana just started laughing. “You only heard like one tiny part of our conversation, Elizabeth. And I was not taking advantage of anyone! I can’t believe you would even think that of me!” she added with a serious scowl.

Long story short, Jim or James Lea is known for his invention of the Therm-a-Rest mattress. If you do any outdoor activity or camping, you’ve probably heard of Therm-a-Rest! Throughout the conversation, he willingly mentioned his philanthropic activities and admitted that he wanted to help people with CMT. Having been diagnosed with CMT early on in his life, he wanted to give back to a cause close to his heart. But first, he had to do some homework.

thermarest

He asked Jeana if she would be willing to go back to Seattle and spend a couple of days with him to talk about the CMTA, its mission, and financials. More than anything, he wanted to get to know Jeana better, to understand her values, her work, and her purpose.

Jeana ended up spending 3 full days with James, from 9am-7pm  with James, who was still very busy with his various business ventures. Later, I called James and interviewed him. Here is the article I wrote for the CMTA Report:

James Lea is one of the original founders of Cascade Designs and the developer of Therm-a-Rest, the world’s first self-inflating camping mattress. Born in Tacoma, Washington, on October 22, 1920, this spritely nonagenarian shows few signs of slowing down any time soon. When asked what he does in his free time, Jim was quick to respond, “What free time? I am very busy!” When he is not working in his office, he tries to remain as active as possible. He enjoys being on the lake and working on boats, always trying to improve their function. Jim also put a lot of emphasis on taking care of himself by eating right and maintaining good lifestyle habits. Once in a while, he might even play his ukulele, which is increasingly difficult due to his CMT. Yes, Jim Lea has CMT, as did his siblings, father, and grandfather, who got around using two canes.

Jim was in his thirties when he first noticed signs of the disorder, “When I walked, it felt as though my socks were bunching up under my feet.” It was not until he was in his late 50s that neurologists from the University of Washington officially diagnosed him with Charcot-Marie-Tooth. As a successful engineer and businessman, Jim has managed his CMT over the years. “Truthfully, I just try to ignore it, work around my difficulties, go ahead with my day and do the best that I can, every day.”

 

Jim Lea “poses” for a picture. Later he admitted, “This picture was a hoax! I never rock climber in my life. Look at the shoes I am wearing!”

 

 

 

 

 

Forever inquisitive, Jim has also done quite a bit of research on CMT to better understand treatments, therapies, and current CMT research. Choosing to accept his CMT as an undeniable presence in his life, Jim never shied away from telling others about the heritable disorder passed on from generation to generation in his family. In fact, just last year at his 90th birthday party, he took it upon himself to spread awareness of CMT by passing out brochures and educating his guests about the disorder. How I admire James Lea and his positive, upbeat attitude! Despite the fact that CMT is affecting his breathing, his hands, his feet, and body, never once did I hear him complain or lament about his struggles. Moreover, encouraged by recent progress in the CMTA’s STAR initiative, he does hope that treatments are forthcoming for our younger generations.

His message to younger people with the disorder is to “stay strong, accept the condition, and find alternative ways to achieve your goals and dreams.” Not missing a beat, Jim also hopes that scientists will hurry up and find a way to create … another Jim Lea, at 65, who could do some of the many things he still wants to do in this lifetime! At 91 years old, Jim Lea is one of the most positive and upbeat souls I have ever had the opportunity to meet. His never-give-up attitude, inquisitive mind, and perseverance are most admirable, making him the legend and role-model he is today.

Jeana passed all his tests with flying colors, as did the CMTA.  Jeana and Jim created a true friendship which grew and blossomed right up until the day he passed on December 20, 2016. When talking on the phone was no longer possible due to hearing loss, Jeana sent him cards and letters, always making sure to include one of her daughter Rylee’s drawings.

Jeana Sweeney and her beloved Rylee.

James Lea gave a large part of his estate to the CMTA after his passing as he not only believed in the work of the CMTA but also in one of the Association’s most well-known, hardworking and genuinely caring CMT advocates – Jeana Sweeney. Jim will remain in our hearts forever, and his investments into the CMTA will help many for a very, very long time.

 

12 Compelling Reasons I’m Talking About CMT This September

Top Twelve Reasons I’m Talking About CMT during Awareness Month

 

12) Confused Faces-When I tell people my son has Charcot-Marie-Tooth disease, I get looks like this:

Let’s stop the nonsense. I’m looking for reactions of recognition, like Dr. House’s below:

11) Dentures? Besides having had too many cavities, crowns, and pulled teeth, there is absolutely nothing wrong with my choppers. Yohan has beautiful teeth and healthy gums, too.  Dr. Howard Henry Tooth discovered this progressive neuromuscular disease at just about the same time as the French neurologists,  Dr.  Charcot, and his disciple,  Pierre Marie. So now we are stuck with Charcot-Marie-Tooth or CMT.

10. Eponyms. Jean-Marie Charcot is known as the father of modern neurology. And, he made sure no one would ever forget his legacy. Why? He was generous enough to share his last name with a host of other diseases he unraveled:

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Here is the short list of the master’s eponyms:

 

Sounds a bit narcissistic, don’t you think?

9) But, It Could Be SO Much Worse! 

I stop my complaining when I remember that the name COULD have been definitely much worse.  Why? One of my good doctor friends, a most reliable source, explained that Dr. Nikolaus Friedreich, as in the neuromuscular disease Friedrich’s Ataxia,  also wanted credit for the discovery of CMT, but the message of his discovery did not reach the authorities in time….something to do with an unannounced closing of government offices. So the Grand Poo-Bahs did not receive the important Carrion Pigeon or telegraph messages. Bummer for Nikolaus and hurrah for people with CMT everywhere! We don’t have Charcot-Marie-Tooth Freiderich disease (CMTF), but rather just CMT.

Thank God for small miracles.

8. Let everyone know that CMT does not stand for:

Country Music Television

Childen’s Musical Theater

Certified Massage Therapist

7.  Pronunciation: Give others ways to remember the name, pronounce like:

\(ˌ)shär-ˌkō-mə-ˌrē-ˈtüth-\

or

or

6. . Shark’s Teeth Convention? Once, I wanted to book a large room for a CMTA conference. The short discussion went something like this: “Hi. I need to book a meeting room for the Charcot-Marie-Tooth Association.”. “Okay, let me see. What is the date of your Shark Tooth meeting?

Carcharias_taurus_teeth (1)

Enough said. Ugh.

5. Rent a Costume or Let Your Pets Do The Dirty Work!

If you feel awkward about starting the CMT discussion, you and your animals can dress up like a shark – it’s fun and you are bound to get s few questions! Or, just paint your horse with non-toxic paint. People will ask…..trust me.

apple

4. Braces – Tell people you wear braces and when they look at your mouth, lift up your pant leg and flash them with your one-of-a-kind ankle-foot orthoses (AFOs).

 

 

 

 

 

 

 

 

3. Genius!

Wow your friends with your knowledge of medical jargon. Use CMT-related words like:

peripheral neuropathy, autosomal dominant, hereditary motor and sensory neuropathy, dorsiflexion, plantar flexion, pes cavus, myelin, axons, exome sequencing, orthosis, etc……

They’ll be stunned by your brilliance.

2. Participate! The CMTA makes it fun to celebrate and talk about CMT during CMT awareness month.  We have an entire interactive site dedicated to CMT awareness: https://www.cmtausa.org/community-powered-awareness-month-2018/

Or just send around the How Much Do You Know About CMT Quiz? 

Click here to take the quiz: https://bestfoot4wardblog.com/2018/09/02/its-cmt-awareness-month-how-much-do-you-know-about-cmt/

Be the expert on questions they can’t answer. Teach a friend and make good use of your never-ending CMT knowledge!

 

1) Acceptance-Whatever you do, talk about your CMT. Share your experiences with people who might not know about CMT. Most people want to know and CMT Awareness Month provides a platform to share resources and stories in an effort to shed light on this progressive neuromuscular disease, its symptoms, its effects.   Knowledge is power. Go forth and tell someone!

 

Break the Silence: CMT Stories and Events

ARE YOU READY?

 

 

 

 

 

The Cycle (and Walk!) 4 CMT event at the Old Lantern in Charlotte, VT on Sunday, August 26 will be upon us before you know it! Please act now to reserve your spot to cycle, walk and/or attend the unforgettable after-party!

Whether you are attending the event in person or participating virtually, here are your top 4 action items for you to complete right now:

The Cycle (and Walk or Roll!) 4 CMT event is so much more than a bike ride or walk around Charlotte, VT. It is a way to give hope to families and their children all around the world for a medicinal treatment to stop the progression of CMT.

I asked our friend Riley Ashe from Vermont, who never misses the event, to talk about what this event means to him. Here is what he said (get Kleenex out before pressing play):

 

 

 

My brother George’s heartfelt thoughts (grab yet another kleenex):

 

 

After-Party

Event After-Party

Rumor has it that we throw the best after-party of any non-profit event for miles around! Riders, walkers and party attendees are going to have a blast again this year.

After the morning activities, plan to relax in the beautiful setting at the Old Lantern in Charlotte, VT.

Quench your thirst with VT brewed beer, enjoy delicious food, including appetizers and a fully catered menu and bid on epic silent auction items provided by our supporters.

Rock out to the lively tunes of our favorite band, Leno, Cheney and Young, mingle with family, friends and hear about exciting CMT research updates from our internationally acclaimed CMT experts, Drs. Michael Shy and Steven Scherer.

CMT Experts – Drs. Scherer and Shy

Yohan and his Grandmother, Bev

The Love of an uncle for his nephew. Family is everything.

 

Our Fabulous Band

Walk 4 CMT!!

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

If you cannot make it this year – you can still participate by doing a VIRTUAL CYCLE or WALK or ROLL. It’s easy! Register: http://www.cycle4cmt.com. Here is some of the cool swag you’ll receive after you’ve reached your fundraising goal.

If you do a virtual event, send me pictures of your adventure! I need to brag about you! xoxo

 

 

Help us break the silence…get the word out about CMT!

CMT: So Much More Than Hands and Feet!

Yohan gets Rylee’s mind off her knee pain.

 

“What’s up with the knee brace?” I asked 12-year-old Rylee, who was visiting from Pennsylvania for a couple of days. Head down, in a whisper, she told me, “My knee keeps popping out of joint. It hurts really bad when that happens. ” Just the thought of having my patella on the side of my leg for any extended amount of time makes me cringe. Yuk!

 

I will not stand for this. Will you?

Helping Yo with his drops!

“Ugh. Can you put these drops in my eyes?” Yohan groaned. He had just had eye surgery and needed drops every hour, on the hour. I almost said, “Buddy, you can do that yourself.”  And then I remembered his tremor and weak grip strength.  “I tried,” he grimaced, with water streaming off his cheeks, “but I missed!”

I will not stand for this. Will you?

Bethany and Elizabeth

I dread the thought of Bethany coming down with a cold because coughing takes energy and congestion robs her of the precious air needed to breathe effectively. Did you know that CMT can affect the nerves leading to the respiratory muscles? For some with CMT, the thoughtless act of breathing freely becomes a forced, challenging and anxiety-provoking undertaking, which may necessitate frequent visits to the ER. Not fun. Not fun at all.

I will not stand for this. Will you?

So, you see, CMT is much more than a funky way of walking, foot drop, high arches, and leg braces. CMT may also causes cramps, falls, balance difficulties, cold extremities, nerve, muscle and joint pain, curled hands and toes, altered reflexes, extreme fatigue, sleep apnea, hearing loss, etc.  In short, CMT is a bitch!

I will not stand for this. Will you?

The most amazing thing about CMT is that we can fight it. Unlike many diseases, the genes that cause many types of CMT are known. The CMTA’s scientists are working tirelessly to stop or slow down the progression of CMT, and they are making headway. We’ve accomplished so much since 2008:

 

Highlights

• Clinical planning has started. Working together with the NIH and the MDA, we are developing our clinical infrastructure: new centers, more clinicians, patient information and history over time.
• We are developing ways to measure disease progression in people with CMT.
• We are starting to use cellular and animal models of CMT to help pharmaceutical companies test their drugs quickly.
• We are partnering with pharmaceutical companies and labs to apply breakthrough genetic therapies (like gene therapy, RNAi, CRISPR) to CMT.
• We will continue to expand our program to cover more forms of CMT.

Join me to raise the funds to bring a drug to market and rid the world of CMT. Big goal? Well, maybe, but why not dream big? We’ve got to start somewhere.

WE will not stand for this.

Imagine what we can do TOGETHER! Did you know funds are what stand in the way between us and a treatment for CMT? Not scientific understanding. Not resources. Not clinics. Not patients. MONEY. I certainly don’t have all the money needed to bring a drug to market, but with your help and the help of others, the money can be raised to support scientific research. It’s doable.

Chris Ouellette-The organizer of the Cycle 4 CMT

Want to help? Our family has put all its efforts into Vermont’s Cycle (And Walk!) 4 CMT event and thanks to friends and family like you, we’ve raised close to $650,000 over the past 4 years. That’s not chump change, friends.

We are now preparing for the 5th Annual Cycle (and Walk!) 4 CMT event, to be held in Charlotte, VT on Sunday, August 26. Every dollar counts. Any donation is valued. Spread the word.

To join our efforts to build a better tomorrow, check out our website: www.cycle4cmt.com and donate a little or a lot.

 

Here is how to start changing lives:

1) Register for the Cycle (and Walk!) event and/or,
2) Fundraise! Tell others why this cause is important to you and/or,
3) Spread the word and register a friend and/or
4) Sponsor a rider, a walker or the event itself and/or
5) Sign up for the after-party.

Thank you for offering a promising future to Yohan, Rylee, Bethany and the 2.8 million + people around the world with this debilitating disease.

Never Give up or Give In. Just GIVE!

 

CMTA: Turning Science Into Therapies

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”?

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?

Image may contain: 1 person

 

 

Good Friends Are Hard to Find: Yohan’s Foot Surgery – #18

Good Friends are Hard to Find: CMT feet, Cheetah legs & Time travel

It was in the fall of 9th grade, and Yohan had just twisted his ankle, yet again. It was a bad sprain, nothing a couple weeks of icing and crutches wouldn’t cure. But, a bum ankle was just the tip of the iceberg. Chronic sprains, neuropathic pain, footwear woes were more the norm as his CMT progressed. His good friend Will, trying to make Yohan feel better, innocently came up with a solution to stop the madness. “Yohan, why don’t you just get below-the-knee amputations? I bet they could give you an awesome, high-tech pair of Cheetah Legs, and then you could run, play sports, hike….you could do it all!, ” he said as his thoughts drifted to Yohan’s  first gold medal sprinting win at the Paralympics.

sprint

As crazy as this idea of artificial limbs sounded at the time, it didn’t seem so far-fetched today.

Here are the facts:

-Yohan had reconstructive foot surgery in June.

-As soon as he was given the go ahead to walk, he developed a pressure sore on the ball of his foot.

-Pressure sores are persistent and in his case, a sign that his foot mechanics are off.

-Orthotic modifications have not been helpful.orthotics

-One surgeon suggested surgically lifting the big toe bone, and straightening all the toes, while a second surgeon had a completely different perspective. They do agree on one detail: Both think another surgery is imperative to get him back on his feet. We were hesitant to get a second opinion- it often confuses the picture even more, and then the patient is left to figure out the “right” solution.

Lately, I find myself saying the “F” word ….a lot.

f-word

Why? I am angry, frustrated, scared, disappointed, and did I mention, scared? It feels as if we are rolling the dice or playing Russian roulette: One wrong move and BANG!!  You are no longer walking. Maybe a classic case of negative thinking,  but that’s the analogy which came to me, so I used it.

shoulds

Today, I’ve had a bad case of the “shouldawouldacouldas,” otherwise known as regret or backward thinking. If only if we could just go back to May, to the joy and happiness of Yohan’s graduation day, with the knowledge we have today. Maybe the surgery would have gone differently. Maybe we would not even have had the surgery. Maybe he did not even need surgery. High? No, I am not high….a bit delusional perhaps, but not high.

I was even Googling “time travel + start-up companies+ Steven Hawkins” hoping to discover an investment opportunity to enhance the development for time machine technology. We could even launch a Time Travel app!  Wouldn’t that be cool? I didn’t find what I was looking for, but I did find this interesting article: http://www.dailymail.co.uk/home/moslive/article-1269288/STEPHEN-HAWKING-How-build-time-machine.htmltime

Balderdash!! STOP. REWIND. The only way forward is to look ahead, not back.

forward

If I invest in anything, it will be in Yohan’s future and the future of so many with CMT. At least in this realm, the CMTA is making tangible and reality- based progress. If you do not know about the STAR or Strategy to Accelerate Research initiative, click here:  http://www.cmtausa.org/research/our-star-strategy/

str

We are not really ready for the cheetah leg prosthetics. Having chronic pain myself, I too fantasize about getting cool-looking prosthetic limbs. It’s tempting. I mean, who wouldn’t want to look  and get around like actor, activist and athlete Aimee Mullins?:

aimee

But, both Yohan and I are kind of attached (literally and physically) to our own feet and calves, And then, of course, there is that problem of nerve pain, phantom limb pain, emotional turmoil, financial considerations, etc…..it’s a big decision, one we are seriously not considering. But Will was right, they sure are impressive. Love you Will!

Surgery is Imminent

Yohan’s Surgery #1 – Surgery is Imminent
June 20, 2016
The Eve of Surgery

 

His toes are curled, especially the pinky toe which begs attention by standing just that much higher to make wearing any shoe a challenge. His crescent arches make walking a balancing act. His calves are as tight as the string of a bow and his ankles are turning out as the supporting tendons lose their grip. Thick, but hard earned callouses are just a bonus for winning the CMT lottery.

CMT is usually passed down from one generation to the next. It is inherited. Yet, neither my husband nor I have it. Yohan is the first person in our families to have CMT. His CMT is caused by a spontaneous genetic mutation. A mutation that can be passed on to his children, his children’s children, and so on and so forth.

Yohan will have reconstructive foot surgery tomorrow morning at 7:00 am, a surgery which has been planned for a year and scheduled for 3 months.

CMT foot

A few weeks ago, in a moment of sheer fear and anxiety, I clumsily suggested that we might want to get a second opinion on the necessity of surgery, a surgery that was only 3 weeks away.

In shocked disbelief, Yohan blurted out, “Are you expletive kidding me? After choosing to put my life on hold for a year after graduation? After all the in-depth discussions and conversations we’ve had?   No way. I’m resolute in my decision. Now let’s get this over with and put it behind us.”

Enough said. My worry asked the question and the voice of reason responded: the surgery is a go. The reality is that Yohan can no longer run, walk with confidence or stand without pain. It’s time. It’s time for an upgrade that only the hands and skills of a competent orthopedic surgeon like Dr. Pfeffer can offer. After tomorrow’s surgery and a 6-month healing process, Yohan’s calves will relax, his pinky toe will align, his arch will flatten and his tendons will be strengthened. Tomorrow brings the promise of less pain and more stability.

Any surgery is risky. And the recovery for this particular surgery is long and tedious.  But the possibilities of a new tomorrow are endless. So, when anxiety rears its ugly head, I am guided by Yohan’s words: Plan for tomorrow, then live in the now. Our brightest future lies in the sound decisions of today.