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Cedars Sinai Opens Center for Pediatric Neurogenetics and Neuromuscular Discorders

Cedars Sinai Medical Center has announced the opening of the Pediatric Neurogenetics and Neuromuscular Center. Based in Southern California, the center will give pediatricians, pediatric neurologists and the parents of children with hereditary neurological diseases or nerve-related disorders a new resource. The center will have state-of-the-art research and treatment facilities, expert diagnostics and genetic testing.

The co-directors of the center are Robert H. Baloh, MD, PhD, who is also the director of the Neuromuscular Medicine, ALS Program, and Tyler M. Pierson, MD, PhD, a member of the Departments of Pediatrics and Neurology at Cedars-Sinai.

In a news release, co-director Robert H. Baloh, MD, PhD, said:

“When an infant or child shows signs of a disorder of the brain, spinal cord, nerves or muscles, a pediatrician or pediatric neurologist in the community usually would like to refer them to a specialty clinic at a large treatment and research center, but many of these disorders have overlapping symptoms, making it difficult to know which clinic is most appropriate. Our clinic removes this burden because research and treatment experts from several disciplines evaluate each child’s case to develop testing and follow-up strategies. As we reach a diagnosis, the appropriate expert takes the lead, coordinating ongoing care with the referring physician.”

Tyler M. Pierson, MD, PhD, said:

“Parents often are desperate for answers and don’t know where to start. As a group, we look at each patient’s case and say, ‘This is what we think is going on, these are the types of physicians you need, and this is the testing that will begin to bring it all together.’”

The center will provide testing and care for rare conditions such as Ataxia, Muscular Dystrophy and hereditary neuropathies including Charcot Marie Tooth.

It was announced recently that Cedars Sinai Medical Center was awarded $3.5 million to study Charcot Marie Tooth.  More details are available here.

Source:

http://cedars-sinai.edu/About-Us/News/News-Releases-2013/Cedars-Sinai-clinic-provides-expertise-in-pediatric-neurogenetic-neuromuscular-disorders.aspx

CMT In My Shoes Part 2 – Richard Wheeler

This is the second part of an article by Richard Wheeler. In this part Richard talks about CMT and mixed martial arts (MMA) training, the Hereditary Neuropathy Foundation and the CMTA.

An article posted about CMT and mixed martial arts (MMA) training led me to the Hereditary Neuropathy Foundation (HNF) and fueled a small fire in the back of my mind. I have loved MMA fighting for years and tried to dabble in some of the training on my own in my earlier years. I often joked about hosting a Paralympics type of exhibition MMA match among competitors with similar CMT symptoms with some sort of restrictions to minimize serious injury. Part of this dream was inspired by scene in the old western TV series Bonanza about the struggles of an artist who became blind and felt angry about losing the ability to defend himself. Another inspiration came from a scene in the movie My Left Foot about a severely crippled boy in Ireland. He actually starts a fight in a pub with a drunk disrespecting his dead father they had just buried that day and there is joy in his eyes as a result.

Both CMTA and HNF promote athletes and teams to raise awareness and funds for research that goes directly to developing treatments and discovering cures for CMT. All three organizations, MDA, CMTA, and HNF have done an extraordinary job of funding research and teaching the public about CMT and I don’t see any sign of any of them giving up until we have cured CMT. I did notice a very common, traditional, family tone to the athletic outreach programs and started to think about the 31 million MMA fans that might not be reached through current efforts.

Another acronym has been born! MMA 4 CMT is the tool I will use to entertain my own twisted concepts about battling CMT, but more importantly I will work to earn the attention of the 31 million MMA fans to educate them about the existence of this disorder that affects 150,000 Americans and 2.6 million people worldwide. I have no intention of diluting the fund raising efforts already in place. I just want to make enough noise to reach some of us deafened by too much loud music! Somehow I will parlay this attention to reach out to the medical community so that people have a greater chance at a proper diagnosis if they have CMT which will help them to find the right resources to live a better
life with CMT!

You can read part one here.

Picture courtesy of Richard Wheeler

Picture courtesy of Richard Wheeler

STAR Pathways Campaign Launched by the National Charcot Marie Tooth Association

The US-based National Charcot Marie Tooth Association announced the launch of the STAR Pathways initiative on Friday. The Strategy to Accelerate Research (STAR) aims to deliver the first treatments for patients with Charcot Marie Tooth (CMT). An international consortium of peripheral neuropathy researchers and clinicians will work together to help find treatments for the millions of people affected by the disease.

The Charcot Marie Tooth Association says it will raise $25 million over the next two years to “sponsor continued scientific research specifically targeting CMT, type 1A”. The news release also states that “2A and 2E are also being examined under the same research protocol”.

The news release states:

“The opportunities associated with STAR stem from the identification of 51 specific gene defects opening an extraordinary window of opportunity to develop treatments and cures for CMT in the immediate and foreseeable future. STAR’s unique character stems from the willingness of the scientists to come together to advance CMT research as a team, sharing and communicating ideas, discoveries and research findings. Leveraging and promoting this unique expertise in a collaborative manner is what makes STAR unique.”

“STAR reached noteworthy success in 2012 when potential treatment options, many of which capitalized on scientific breakthroughs in genetics, saw significant progression.  This progression led to STAR Pathways, the integration of a directed protocol to determine effective treatments for those with CMT through the following steps: building cell lines for testing purposes, creating an animal model through which drugs may be tested, putting cell lines through intense screening at the National Institute of Health (NIH) to diagnose the impact on the disease, testing compounds that are effective at regulating CMT during a pre-clinical phase, investigating the safety of newly established medication and two phases of human trials.”

Source:

http://www.prnewswire.com/news-releases/national-charcot-marie-tooth-association-launches-star-pathways-campaign-188039561.html

CMT in my Shoes – Richard Wheeler

This post was written by Richard Wheeler. You can visit his blog at http://mma4cmt.blogspot.co.uk/

Arthur Keeney came to California from Oklahoma, with his wife Grace and the first few of thirteen children, back in the “dust bowl” days immortalized in John Steinbeck’s 1939 “The Grapes of Wrath”. He was in his late sixties in my early childhood and had the oddest hands and walking gait. The fingers of his hands were tightly gripped into his palms and his thumbs hung limp and useless. He could really work those knuckles though and would smack them down hard and loud on the kitchen table if any of us children became disrespectful. He wore the traditional hats, shirts, and trousers that many men of his generation did. However, he always wore the highest combat boots and walked with a “marching” gait as if he were always stepping over some obstacle.

While he was still with us, it had always been assumed that he had suffered “bent bones” from early childhood polio. None of his thirteen children showed any signs of his disability and no inherited disorder was ever suspected. I was the first great-grandchild and I did not show any early, obvious signs and there was no anticipation at that time. I was never first place in physical competition, but could usually place second or third. I used to have terrible “growing” pains and frequent neck pain that would be very painful and make it impossible to turn my head for several days.

I did not have a “dad” figure around until twelve and whenever I tried doing the “guy” things that required hand dexterity on my own I found it so frustrating that I suffered extreme angry melt-downs that I kept to my little self.
I remember trying to put together a model car and every time I tried to remove a piece I would break it, and got more glue on my hands, clothes, and desk than on the car. I smashed it into bits. I felt that I was defective due to lack of
father figure. I am not reporting this to gain sympathy nor cause my Dad who I now know, love, and appreciate any pain or guilt. Rather I intend to illustrate how important the medical knowledge alone could have been in helping me deal with the issues.

I am reminded of my Great-Grandpa Keeney, an extraordinary man who lived a long and hard working life. He did his best to raise a huge family and instill a proper Christian work ethic in them. He suffered pain and the inability to perform many daily tasks that most can take for granted without ever any knowledge of why or hope for any relief, let alone a cure. A cure for what? I don’t think he enjoyed the financial support that allows many people with disabilities today, in America, to live a relatively comfortable, secure life.

Some time after he passed away my cousin, the third or fourth great grandchild I think and my mom’s sister’s first son, received a diagnosis of Muscular Dystrophy at an early age and was placed in extremely rigid AFO’s immediately. Soon symptoms were beginning to be reported by some of Arthur’s daughter’s sons and more of the other great grandsons. At nineteen, I was diagnosed with Charcot Marie Tooth only experiencing a minor loss of foot strength and range of motion at that time. I was told by the diagnosing physician that there was no way to know the course of the disease for myself, no treatment or physical therapy to do, to stay active but not over exert myself, and oh yeah, stay off drugs and alcohol.

The doctors at that time were telling me I had CMT, a muscular dystrophy. The Muscular Dystrophy Association (MDA) paid for that first visit and later in life as my denial and fight against CMT began to take it’s physical and spiritual toll. The MDA has provided braces at times but I soon tired of EMG’s and NCV’s that were painful and provided nothing but confirmation of deterioration that was visually apparent. Many of those tests were required to prove I still had CMT for various services I needed. The clinics I attended seemed to use me as teaching tool and did not really interact with me as a person. I was even told at one point by a doctor that I did not have Muscular Dystrophy, CMT was a Neuropathy and that I should not count on MDA’s support much longer. Years later I learned that doctor was both right and wrong! CMT
is an inherited peripheral neuropathy but is still supported by the MDA.

Picture courtesy of Richard Wheeler

Picture courtesy of Richard Wheeler

With bracing, further education, and stubborn drive I continued to work into my forties. I am now forty-five and have spent much of the last couple years on my couch and in a power chair. Due to one lousy toe bending increasingly under my foot, I could no longer wear AFO’s. I resorted to soft OTC braces and a cane which led to falls, a minor leg fracture, sore hands, elbows, shoulders. The information now available about surgical options were overwhelming and I have family that went through some pretty major procedures years ago that did not produce desired results.

I again went to MDA and they helped me coordinate a visit to Stanford’s neuro clinic in California. What an amazing experience, they showed me new AFO products and had a line of specialist waiting to answer any questions I had and offer resources. Jennifer Fisher from MDA also met me and spent time discussing my needs and concerns. I was really approaching a low in my life that was scary before that visit. With renewed spirit I went to the MDA website looking for support groups I had avoided in the past for various personal reasons.

There was nothing close enough to attend but I kept searching. I think I found the link for the Charcot Marie Tooth Association (CMTA) in MDA’s online Quest magazine. There I found online support and discussion groups that exponentially multiplied my access to others with CMT as well as medical professionals that will respond to almost any CMT related issue. I found many new friends that understand and offer insightful advice for CMT issues and even other more personal concerns.

One of these CMTA friends led me to CMTUS on Facebook and wow, it was like catching another gear in a muscle car. Now I have another group of people I consider family. We often have minute to minute discussions providing revelations in our knowledge and awareness of our disorder and treatment options. Many questions that so many doctors simply do not have the answers to, such as “should I lift weights?” are discussed in enough detail by a large sample of people with CMT that one can learn what to educate their doctors about to help. The experiences reported on CMTUS provided me with the confidence and knowledge to discuss my options with my podiatrist and finally get some surgery. Very simple procedure has given me new lease on life. I can wear my AFO’s again!

Part Two of this post will be added later this week.

Living with CMT

In 1990 I was diagnosed with a form of hereditary neuropathy called Charcot Marie Tooth. It is a little heard of disease, but it affects 2.6 million people worldwide, according to statistics from the Hereditary Neuropathy Foundation.

When I started this blog it was just going to be about me and my battle with hereditary neuropathy, hence the title. However, recently I have been in touch with many other people with CMT – largely through Twitter and online forums – and I want to share other people’s stories too.

Living with CMT isn’t easy but it isn’t all bad either and recently I’ve been inspired by the number of people I’ve ‘met’ with CMT.  Despite their diagnosis, they are all just living life; many of them are finding their own way to “battle” against this disease and their own way of doing things.

I am going to share many of the stories on here and I will begin with a piece forwarded to me by Richard Wheeler, who has been kind enough to share his story with me.

If anyone would like their story shared, they can contact me on jane.fazackarley@gmail.com

Cedars-Sinai Physician award $3.5 million to study Charcot Marie Tooth Disease

A physician-scientist from the Cedars Sinai Medical Center has been awarded a  $3.5 million grant to study Charcot Marie Tooth (CMT). CMT is the most common of the hereditary neuropathies and it is estimated that 1 in 2,500 have it.

The grant was awarded by the California Institute for Regenerative Medicine.  Robert H. Baloh, MD, PhD, director of the Neuromuscular Division of Cedars-Sinai’s Department of Neurology and a member of the brain program at the Cedars-Sinai’s Regenerative Medicine Institute is to lead the study. Dr Robert H. Baloh will work alongside other members from his team at the Neurodegenerative Diseases Laboratory, and the study will be looking at the potential of induced pluripotent stem cells (iPSCs).

Baloh said:

“Our studies funded by the CIRM grant will be ‘preclinical’ – laboratory research – to determine if we can generate personalized stem cell lines for individual patients.”

“This would mean removing skin cells from a patient with this disease, converting them into induced pluripotent stem cells, genetically correcting them, and then transplanting them back into the patient to – we hope – restore normal nerve function.”

The study will focus on the errors in the gene PMP22 or peripheral myelin protein 22.  A defect in the gene causes CMT type 1A; approximately 11 in 100,000 people in the United States have CMT type 1A, according to the statistics from the news release.

Commenting on the study, Baloh said:

“We will strive to provide very efficient service, including diagnosis, treatment and genetic testing. Patients are often sent from doctor to doctor and physical therapist to physical therapist, spending a lot of time and resources trying to find the care they need or even get an accurate diagnosis.”

“Several highly respected orthopedic surgeons are part of our multidisciplinary team because we are interested in determining if reconstructive surgeries for certain deformities can improve movement and quality of life for some patients with this disease. We also have pediatric neurologists, a medical geneticist and a certified genetic counselor.”

“One of our goals is to do the least expensive but accurate genetic testing, a daunting task for most neurologists in the community. While we cannot offer a cure for the disease at this time, we can help people understand it and learn about the risks of it occurring again in their family. Having an accurate diagnosis also will make it possible for patients to participate in clinical trials in the future, hopefully even those involving individualized stem cell lines such as the ones we are currently researching.”

Source:

http://www.newswise.com/articles/view/597306/?sc=mwhn

 

My first appointment

I had my first appointment with a physio today to get some exercises for the TMJ I’ve been diagnosed with.  The lady I saw was absolutely brilliant and the exercises she gave me have helped already.  I have another appointment in a few weeks time, and I’m looking forward to a relatively pain-free Christmas this year.

I actually find TMJ more difficult to live with than Charcot Marie Tooth (CMT) disease.  With CMT, you just adapt, with chronic face pain, it is difficult to adapt, and even more difficult to know how to, especially when you don’t know what is causing the pain.  Anyway, for the first time in a long time the whole right side of my face doesn’t feel like it is alight so I hope the progress continues.

While I was at my appointment, I took the opportunity to ask about my shoulder pain.  I developed shoulder pain a few years ago and was told it was down to the CMT and my shoulders having to work harder because of the weakness in my hands.  However, as the pain only started after I had worked more hours than usual I felt there had to be something else going on and I have since been diagnosed rotator cuff tendinopathy and Work-related Upper Limb disorder (WRULD).

Since the diagnosis I have been struggling to keep working as the pain has been getting worse and more constant; I’ve also developed elbow, forearm and wrist pain.  As I use a laptop for work the therapist advised me that my lower arms weren’t in a proper resting position so to use a pillow or something similar to rest my lower arms on while I am typing.

I have yet to test this out as it’s far too late and I’m far too tired, but when I’m using the computer for a few hours in the morning I’ll test it out then and see if it works.  Even if it doesn’t resolve the pain completely then it doesn’t matter, just as long as makes working easier than it is now.