2013 in review

The WordPress.com stats helper monkeys prepared a 2013 annual report for this blog.

Here’s an excerpt:

A New York City subway train holds 1,200 people. This blog was viewed about 5,300 times in 2013. If it were a NYC subway train, it would take about 4 trips to carry that many people.

Click here to see the complete report.

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Disney Ticket Raffle for Charcot-Marie-Tooth disease!

www.cmtausa.org/url/disneyraffle
disney tickets
In conjunction with the Starry Night benefit for CMT in Albany, NY, you can once again try your luck on our raffle for four one-day Park Hopper® tickets for use at the Magic Kingdom®, Epcot®, Disney’s Hollywood Studios™ and Disney’s Animal Kingdom® Park Florida. (valued at $496)

The tickets are valid during normal operating hours and are good through September 24, 2015.

The drawing will be held on December 20, 2013, just in time to make it a great Christmas gift, and the winning number will be posted at
 www.cmtausa.org/url/disneywinner  on December 21, 2013.

Ticket sales end December 20, 2013, so register and get yours now!

Also, don’t miss our Starry Night for CMT Art de Cure Silent Auction reception with complimentary food & wine tasting.
For more information visit here : www.cmtausa.org/url/starrynight
Starry Night flyer

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SAVE-THE-DATE-December-5, 2013-Starry-Night-For-CMT

New Art show installed at the Art de Cure gallery for CMT at CPO (Clinical Prosthetics+Orthotics) benefitting the Charcot-Marie-Tooth Association

SN postcard

NOW SHOWING:   “Gracelines”

DATES:  JUNE 14, 2013 – JANUARY 10, 2014

Starry Night for CMT Reception and Dedication of gallery in memoriam for Christine A. Hook on December 5, 2013  Thursday from 4-7 PM. Featuring Silent Auction of Original art work, jewelry, gift baskets, gift cards and complimentary light fare.

 

You can view some of the art work online at:
http://www.artdecure.org/art-de-cure-galleries/clinical-prosthetics-orthotics-cpo

If you would like to display the art in your home, all pieces are currently for sale through January 10, 2014. Stop in to view the exhibit. Bring some new artwork home today.

Gallery and all events are open to the public during office hours Mon-Fri 8am-5pm.    The Art de Cure Gallery for CMT is located at CPO 149 South Lake Ave. Albany, NY.

Gallery coordinators Joanne Van Genderon and Melinda Lang

Starry Night Event website:
https://www.cmtausa.org/index.php?option=com_eventbooking&task=view_event&event_id=89&Itemid=123&cgroupid=58

Art de Cure, a 501 (c) 3 formed in 2010, is a collaboration between art and medicine. Art de Cure is a unique concept which brings art to an audience not likely to explore art galleries. Galleries are housed in medical practices and the work of regional artists is on display. The host practice chooses the charity that will benefit and Art de Cure curates the shows.
The galleries are permanent with multiple shows and receptions scheduled each year. The Art de Cure Galleries are open to the public, and to the practice’s patients during regular office hours.
Be A Part of Art de Cure

Artists: If you would like your work to be considered for inclusion in the Art de Cure Gallery, for the CMTA please submit up to 6 digital images, an artist statement and bio to: Jackie@artdecure.org- See more at: http://www.artdecure.org/#sthash.AX0B5KZ7.dpuf

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September 2013 is CMT Awareness Month! What Will You Do to Spread Awareness?

                                                                     by Melinda Lang
 

September, CMT Awareness Month is fast approaching. What will you do to spread awareness. There are many ways that we can all help ourselves, by increasing awareness of our rare condition. Something as simple as changing your Facebook photo to the new CMT ribbon:

CMT ribbon

CMT ribbon

Connect with an association that works with your condition such as the CMTA, which provides patient support, public education, and promotion and funding of research  http://www.cmtausa.org/

You can bring brochures (available when you join the CMTA) or information about your condition to leave at the office with doctors, physical therapists and any health care practitioner you visit.

The next time someone asks you a question, “What’s wrong with your foot?- or makes a comment like, “You walk funny.” or “You don’t look like you need that handicap parking permit” -rather then being offended, take a breath and start a conversation.  Instead, try something like: “Thank you for noticing” – then tell them you have CMT, explain how it affects you and take a moment to answer their questions. Hopefully, instead of leaving angry, you will feel proud of yourself knowing you have just helped another person learn about CMT.

If your uncomfortable talking about yourself, perhaps you could distribute posters to libraries, pharmacies, doctor offices any public place that will display them.

Our you could hand out brochures at a health fair. Many health fair organizers will allow you to set up a table to display literature, bracelets, buttons, a banner (etc. )
Awareness Kit
CMT Awareness Month Kits are available from the CMTA here:
https://www.cmtausa.org/index.php?page=shop.product_details&flypage=flypage.tpl&product_id=21&category_id=2&option=com_virtuemart&Itemid=32&redirected=1&Itemid=32

Get your AM 2013 Kit now and be ready to help. Each kit contains 10 AM posters, 10 AM postcards,10 CMTA STAR™ wristbands, 10 “What Is CMT?” brochures, and 10 “Hope & Promise” magnets.

Submit an article to local newspapers and health journals for publication during September, CMT Awareness Month. Write about yourself, or your child and how CMT effects you. Include symptoms, such as: loss of balance, weakness arms, legs hands & feet, tripping and falling. Write about how you were diagnosed, explain the difficulties of seeing doctors, who have never heard of CMT, even though it is the most common inherited peripheral neuropathy. For more facts on CMT visit here: www.cmtausa.org.

Contact your local television health reporter, and suggest a story about CMT and awareness month and tell them your story. Also, suggest they do a PSA (Public Service Announcements about CMT.

Tell your story to your High school/College alumni magazines.

For the past 3 years, I have visited a local college and spoken to physical therapy students about CMT. Perhaps a college or school in your area would welcome you to speak with their students.

You can write to your representatives and the president requesting more funding for rare disease research.  Sign up with the MDA for advocacy alerts, and you will  receive email notices whenever there is legislation that needs your attention. http://mda.org/advocacy

The MDA makes it easy to sign petitions or send letters to Congress by providing the necessary information to easily personalize. Also, a link is provided to quickly find your representative.

If you signed up with twitter,  tweet messages about CMT throughout September and beyond.  (sign up here: https://twitter.com/)
Follow the CMTA @CMTASTAR for tweet ideas.

Also, you can join the rare disease network and sign up for a study:http://rarediseasesnetwork.epi.usf.edu/INC/index.htm

     What will you do for CMT Awareness Month?

VA4j6m

 

 

Order your CMT Awareness items here:  http://www.zazzle.com/cmtaatzazzle*

a portion of sales goes to CMT research!

 

 

 

Posted in Charcot-Marie-Tooth disease, CMT, CMTA, Health CMT, Neurologist, neuromuscular disease, peripheral neuropathy, STAR | Tagged , , , , , , , , , , , , , | Leave a comment

Rare Diseases Deserve Access to Accelerated Approval – Call Congress TODAY!

  • Posted by Melinda L on July 27, 2013 at 4:30pm

It only takes a few minutes to make a call and make a difference!

fdaRare Diseases Deserve Access to Accelerated Approval – Call Congress TODAY!

www.congressweb.com

The FDA recently issued a draft guidance on the Expedited Approval Programs which they say fulfills the FDASIA mandate on Accelerated Approval for Rare Diseases, however the guidance does not address specific issues related to rare disease drug development as required by FDASIAThis is unacceptable!  

 URGENT ACTION is needed from the patient community to ask Members of Congress to sign onto the Congressional Letter urging FDA to improve access to Accelerated Approval for Rare Diseases!  Please take five minutes to call and/ or email your Member of Congress today!

Not sure who your representative is, just click here:

http://www.house.gov/representatives/find/   &  add your zip code

Call and ask to speak to the staffer who works on Healthcare issues.

You can use the following script. Just add your information:

Hello my name is [ —     ]  and I live in [ —-  ]   As a constituent , I am [calling /writing] regarding an urgent request for my Representative, [Rep. ??], to sign onto the Congressional letter urging the FDA to fully implement the rare disease requirements in the Food & Drug Administration Safety and Innovation Act known as FDASIA. As someone who struggles [or has a child] from the effects of CMT, a degenerative neuromuscular disorder, this issue is very important to me.

The letter simply asks the FDA to ensure that rare diseases have access to the Accelerated Approval pathway, which is required by FDASIA. To sign onto the letter please contact Tom Power in Rep. Bilirakis’ office 202-225-5755. Thank you for your time.

To find out more information about the FDA’s draft guidance, FDASIA and Accelerated Approval go to:  www.everylifefoundation.org/action-alert-accelerated-approval

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Naked With Army Boots

Key West sunset

Key West sunset

We just returned from a mini vacation in Key West, land of t-shirts, shorts & flip-flops, where fashion does not matter and anything goes. If you were to walk down Duval Street naked with Army boots, no-one would notice. Not that I tried this. I must have read this somewhere.

crazy Key West fashionAs I was packing for our trip, I thought what better place for a test drive of my new, black, metal leg braces for all to see. However, after checking out the view (me in shorts with my very noticeable leg braces) in my closet door mirror, I rushed out and bought a long, casual summer dress. Just in case, so I would be comfortable dining someplace nice. I still planned on wearing shorts with my leg braces to keep cool, while walking around town.

It’s amazing how we all start out as carefree children, but while in school we learn to become self-conscious, worrying about what other people think of us. Many of us outgrow this. I remember reading somewhere that once you hit 50, you would feel free to dress comfortably with no makeup and hair uncombed, and not give a hoot about what other people think of you. Now, that I’ve reached the double nickel (as my husband likes to remind me daily) I’m waiting for this carefree attitude to overtake me. Instead as I jam my leg braces into my extra wide sneakers, then try to maneuver my feet in using a long shoe horn, I’m thinking about how uncomfortable I will feel, noticing people staring at my legs.  Thwarted by my hammer toe, I struggle to remove my sneakers and try again. Some mornings I give up and just stomp on my toe to straighten it out. Good thing I’ve lost a bit of feeling in my feet.

Some days, zipping and snapping my shorts can take almost as long. Not because I’m overweight, but because my hands don’t work. OK, maybe I’m a little bit chubbier now, after enjoying that dark chocolate covered key lime pie on a stick.

Key Lime Pie on- a- stick

Key Lime Pie on- a- stick

Perhaps those happy hour margaritas, and rum runners on the beach, along with mojitos and Key lime shooters at Hogs Breath bar, may have added a few pounds too. But I’m still blaming it on my CMT weakened hands.

Key Lime Colada

Key Lime Colada

Anyhow, as we strolled down Duval street in Key West toward the sunset party, I did notice a few people, who I thought were looking at my braces. But now, looking at these pictures, I’m thinking maybe they were just checking out my silly hat.

Key West statue_0117

New items available at the CMTA Zazzle store with the new CMT ribbon to raise money for CMT!

CMTA items raise funds for CMT

Start at iGive.com for free & raise more for CMT!  The customized joinLink for Charcot-Marie-Tooth Association (CMTA) is: http://www.iGive.com/charcot-marie
Then click on link to Zazzle from iGive page and choose your t-shirt.

Or find the cmta store to see all of the items available here:http://www.zazzle.com/cmtaatzazzle*

Posted in AFO, Charcot-Marie-Tooth disease, CMT, Health CMT, leg braces, neuromuscular disease, peripheral neuropathy | Tagged , , , , , , , | 4 Comments

Help Find a Treatment for CMT! Sign Up for Research Database

                                  Posted by Melinda Lang on June 30, 2013 at 9:43am

We KNOW that the holy grail for all of us is research into CMT. Unless you are already a patient at a research center, it’s really difficult to know what to do to help.

Well, anyone with CMT, anywhere in the world, can join the Inherited Neuropathy Consortium’s Contact Registry. This is a database, securely held at the University of Florida, that you can sign up to, and that is used by members of the Inherited Neuropathy Consortium (headed by Dr Mike Shy and Professor Mary Reilly) to send research surveys.

We need to get LOTS more people signed up. Go to http://rarediseasesnetwork.epi.usf.edu/INC/index.htm to learn more and to sign up to the Contact Registry. And please SHARE this post on as many CMT Facebook pages as possible, regardless of which country you are in!

http://rarediseasesnetwork.epi.usf.edu/INC/register/

The RDCRN Patient Contact Registry is a method by which patients with rare diseases can register themselves with the RDCRN in order to be contacted in the future about clinical research opportunities and updates on the progress of the research projects. The contact registry is anonymous and free of charge.

Resources : Thanks to Karen Butcher
http://rarediseasesnetwork.epi.usf.edu/INC/register/

RDCRN

Posted in Charcot-Marie-Tooth disease, CMT, CMTA, Health CMT, human clinical trials, neuromuscular disease, peripheral neuropathy | Tagged , , , , | Leave a comment

Meet fellow CMT blogger, Ashley Pomykala

Ashley Pomykala

Ashley Pomykala

Meet The Blogger Behind Parsimonious Pash

Interview by Melinda Lang

How did you decide to become a blogger?

Honestly this is probably one of the toughest questions you could ask.  I tried my way with a couple of blogs before the one I have now.  I had a Xanga blog all throughout high school that I loved to write on.  That one was completely personal with poems, and stories and things like that.  My second blog was “Is it my teeth?” on blogger.  That one only lasted a couple of posts and it was completely about CMT. I re-wrote some of those posts and put them on Parsimonious Pash.  The decision to start Parsimonious Pash was one I started almost on a whim.  I was following tons of blogs and I really wanted to get my voice out there.  It took almost a month to decide on a blog name, and I love it.

Tell us what your blog is about?

My blog was started out as a deal-frugal blog hence why it is Parsimonious (frugal) Pash however it evolved into the lifestyle blog.  The tag line for my blog is “a place for lifestyle, deals, reviews, and pets!”  This tag line might change if I get a larger medical/disabled following down the road.

In your About Me page you describe yourself as a disabled student, living with an amazing boyfriend and many pets. Since this blog focuses mainly on CMT, can you share a little about your disability, and how you manage to keep up with all your pets?

leg bracesHonestly, it wouldn’t be possible without my boyfriend.  I have been with him for 6 years and he is my savior. He helps me with things, rubs my feet, back, as well as helps me stretch my back, hips, and legs out when I need it.  Taking care of my kitties is easy.  I do most things except he carries the heavy stuff for me.  It is the same with the dogs.  My dog is very good and doesn’t pull much when I walk him unlike the puppy which is my father in laws dog.

 

What have you found  most helpful in managing your CMT?

Staying active and trying to do everything that I can.  I admit I don’t follow my own advice all of the time but when I do I am very stubborn about it.

How many doctors did you see before getting the correct Diagnosis?

I didn’t go to multiple doctors to be diagnosedCMT foot.  They actually were waiting until I was old enough for them to do the tests that they wanted to do to diagnose me at four years old. It was a pretty easy diagnosis since my grandmother, aunt, and mom were already all diagnosed with CMT.

What if anything has your CMT kept you from accomplishing?

I really wanted to design orthotics and prosthetics however the weight of many projects and my dexterity made it nearly impossible to finish school and I never was able to complete the last two classes for the program.

Do you feel your family/friends and co-workers understand what CMT means to you?

My family for the most part has understood.  My mom overly understands which causes problems sometimes because CMT has been very different in affecting both of us over the years and I know it caused us to butt heads when I was in high school.  Not everyone understands and sometimes it takes a lot of explaining but my in-laws understand and my boyfriend understands completely though he thinks I am a little crazy sometimes which I probably am.

AFO's

This story from Ashley caught my attention: ” Pro Basketball Players Can be Disabled Too…,”   especially after I had tried to contact Todd MacCulloch last year to see if he would like to participate in CMT Awareness Month.

Read  Ashley’s story here

Posted in Charcot-Marie-Tooth disease, CMT, CMTA, Health CMT, leg braces, neuromuscular disease, peripheral neuropathy, personal stories | Tagged , , , , , , , , , , | 3 Comments

2013 RARE Champion of Hope Community Nominated Awards

World Rare Disease Day

World Rare Disease Day (Photo credit: Sweet One)

The Tribute to Champions of Hope Gala is being held in Newport Beach, CA on September 21st and the Global Genes Project is looking for RARE Champions to be recognized for four special awards nominated by you!  Nominations are being accepted April 1st through May 15th.

Categories include:

Medical Care & Treatment RARE Champion
Recognizing an individual who goes above and beyond in clinical care and treatment for a rare disease patient, family, or the community at large. Someone who engages with a patient/family with a rare disease to optimize care and treatment. This person could be a doctor, nurse or special care provider.

Research & Science RARE Champion
Recognizing an individual who is moving the bar in rare disease research and science. Whether from academia, industry, clinic, or an advocacy group, this person works to advance research for a specific rare disease or is a key agent in the provision of tools and approaches to developing and/or delivering more effective treatments for the rare community.

Collaborations in Advocacy (New for 2013!)
In order to advance efforts related to advocacy, we are finding collaborations are critical and necessary. We are looking to honor those organizations and individuals who see the importance and value in collaborating around a rare disease or group of diseases. Submissions must include names of all parties included in the collaboration.

Collaborations in Research and Science (New for 2013!)
In order to advance efforts related to research and science, we are finding collaborations are critical and necessary. We are looking to honor those organizations and individuals who see the importance and value in collaborating around a rare disease or group of diseases.  Submissions must include names of all parties included in the collaboration.

I voted for the CMTA for Advocacy here: http://globalgenes.org/2013nominate

Provide your name, email and phone number. Choose a category and answer a few questions.

What Make Your Nominee(s) Special?

In what ways do you think your nominee is innovative?

Other Comments

Do you have anything else to share about your nominee or this process?

For more information on the CMTA visit www.cmtausa.org

The Global Genes Project is one of the leading rare and genetic disease patient advocacy organizations in the world. The non-profit organization is led by Team R.A.R.E. and promotes the needs of the rare and genetic disease community under a unifying symbol of hope – the Blue Denim Genes Ribbon™. What began as a grassroots movement in 2009 with a few rare disease parent advocates and foundations has grown to over 500 global organizations.

Resources: http://globalgenes.org/who-we-are-2/

 

 

Posted in Charcot-Marie-Tooth disease, Global Genes Project, Health CMT, neuromuscular disease, peripheral neuropathy, RARE Champion of Hope Community Awards, Rare disease day | Tagged , , , , , , , , , , , , | Leave a comment

Preclinical drug trial for CMT1A

English: Onion bulb formations in a nerve biop...

English: Onion bulb formations in a nerve biopsy in a case of HMSN type I (Charcot–Marie–Tooth disease) (Photo credit: Wikipedia)

 

ADX71441 has shown efficacy in multiple preclinical models including: CMT1A, Addex is also advancing several preclinical programs including: GABA-BR positive allosteric modulator (PAM) for Charcot-Marie-Tooth (type 1a) disease, spasticity in patients with multiple sclerosis (MS), pain, overactive bladder and other disorders.

About Addex Therapeutics

Addex Therapeutics (www.addextherapeutics.com) is a development stage company focused on advancing innovative oral small molecules against rare diseases utilizing its pioneering allosteric modulation-based drug discovery platform.

Resource:
http://www.marketwire.com/press-release/addex-receives-approval-ini…

 

 

 

 

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