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Volume 15, Issue 12
January 2013
INSIDE THIS ISSUE:
 

Medical Updates   
                       

Rare Disease Day

                        
 
CADASIL Forum  Conference

Advocacy & Accomplishments

Emergency Cards

Color Brochures

Wristbands

CTWHH Website

CADASIL Registry

Confirmed Cases Data

Find A Physician


Giving Opportunities

Donate to Research

Exercise That Boost Memory

May 2005-CADASIL Together We Have Hope was recognized by the IRS as a 501 (c)(3) non-profit organization. CTWHH is seven years old.

  

July 1997-The CADASIL Together We Have Hope website was created 15 years ago.

 

The website was redesigned in 2012 to be more user friendly. An index was included on the home page for those who want to see all tabbed topics at a glance. Check out the website as there is a vast amount of information.

1,951 ESTIMATED CONFIRMED CADASIL CASES 
 

The CTWHH database has 1,301 confirmed cases.  

  

Dr. Joseph F. Arboleda-Velasquez reported 100 confirmed cases in Columbia.    

Professor M. Bousser reported 550 confirmed cases in France. 

 

 

WEBSITE VISITORS 
 

Total visits in 2012 to 
the website: 32,529


Average visitors
per day: 89
 

Reported by Urchin

 RARE DISEASE DAY IS NEXT MONTH - FEBRUARY 28, 2013
 

"February 28, 2013 marks the sixth international Rare Disease Day coordinated by EURORDIS and organized with rare disease national alliances in 24 European countries. On and around this day hundreds of patient organizations from more than 60 countries worldwide are planning awareness-raising activities converging around the slogan 'Rare Disorders without Borders' Activities will take place across Europe, all the way to Russia, continuing to China and Japan, in the US and Canada, and as far Australia and New Zealand!" Go to the Rare Disease Day website at www.rarediseaseday.org/ on how you can personally get involved!

WEBSITE RECERTIFIED BY HONCODE

 

Since September 2005, The Health on the Net Foundation Code of Conduct (HONcode) for medical and health websites addresses one of Internet's main healthcare issues..the reliability and credibility of information. The CTWHH website was again recertified as we continue to follow their high standards and ensure we only post factual information on our website.

     

  

CADASIL FORUM CONFERENCE 
  

This informative conference was held September 12-14, 2012 at the Marriott University Park Hotel in Salt Lake City, Utah. Presenters included: Dr. Anne Joutel (who originally isolated the gene mutation for CADASIL) and Dr. Hugues Chabriat from Paris, France; Dr. Anand Viswanathan and Dr. Joseph Arboleda-Velasquez from Harvard Medical School; Dr. Jennifer Majersik from the University of Utah Stroke Center; and Dr. Thomas Schenkenberg from the University

of Utah's School of Medicine.   

 

forum sign


The CTWH
H Board of Directors extends their appreciation and thanks to the Russell family for all their hard work, dedication, and funding for this excellent conference. A hearty thank you is also extended to everybody who supported the conference with their attendance as well as the medical professionals who presented and made the conference a success.   For more information regarding the conference, view the Russell family website at 

www.cadasilforum.org

UPDATED EMERGENCY REFERENCE CARD & COLOR BROCHURES   

  

CADASIL TWHH updated the emergency reference card based on supplemental information received from CTWHH's international Scientific Advisory Committee. Remember to keep this vital card in your wallet, purse or glove compartment.

The cards are now laminated and have important  information and suggestions on what medicines and procedures should be avoided or carefully monitored for CADASIL patients.  
A brief description of CADASIL is included along with pertinent references.   


In 2012, CTWHH also updated the CADASIL Brochure to educate patients, families and medical professionals. There is detailed information on understanding CADASIL including signs, symptoms, testing and much more. Distribute the brochures to your doctors and families.

If you wish to receive the current medical emergency reference card or the color brochure "Understanding CADASIL," send us a self-addressed stamped envelope and we will be glad to forward them to you. There is no fee for the card or brochure, but we always appreciate any donations to defray costs.   

 FIND A PHYSICIAN WHO KNOWS ABOUT CADASIL

 

We have a physician's locator on the website. Over 280 doctors from the USA are listed along with over 23 doctors from Canada and over 82 doctors from other countries.
 

USA Letters A thru L
USA Letters M thru Z

Australia/New Zealand
Canada

United Kingdom
Other Countries

 

If you don't see your doctor listed on the physician's locator on the website and you think others would benefit from their expertise, please e-mail us the information. info@cadasilfoundation.org
 

 

NEW WRISTBANDS ARE AVAILABLE

New wristbands are available with blue with white writing on them. Please go to the website to order these. There is a minimal fee to offset the purchase of these wonderful awareness bands.

bnds 

 

GIVING OPPORTUNITIES

 

Please consider the positive impact a tax-deductible donation can make in furthering the mission of the CADASIL Together We Have Hope Non-Profit. Also, if you are unsure of what gift to give a family m.ember, consider making a donation in honor of that person. We will mail the honoree a card and send the donor a receipt for making the kind donation.

When CTWHH became a nonprofit in 2005, The Board of Directors decided to have no membership dues, no paid staff, and run solely on donations.

We are devoted to promoting awareness, education, support, and research for this rare genetic disease for CADASIL patients, families, friends and healthcare providers. We are a 501(c)(3) non-profit organization, recognized by the IRS as eligible to receive tax-deductible donations.

We would not exist without your support and are here for you. No matter what the size of your donation, you will impact the lives of many.
   

Donate  

RESEARCH DONATIONS


We encourage donations to research and prefer you send funds directly to an entity which funds research grants or conducts research.
 

CTWHH has listed some suggestions on the website for you to explore with due diligence prior to making a donation. Kindly let us know if you find other groups or individuals around the world who are able to receive tax deductible contributions and should be added to the list.

Please note we don't directly endorse any individual, organization, hospital, or research team but rather provide information for you to make an educated decision.

Please go to the website and under "CADASIL Research" click on the link "Donate Directly to Research".

logo
CADASIL Together We Have Hope Non-Profit Newsletter
 Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
 SCIENTIFIC ADVISORY COMMITTEE ANNOUNCEMENT

The Board of Directors of CADASIL TWHH is honored to announce the recent additions of Dr. Keith Muir, Dr. Leonardo Pantoni, Dr. Anand Viswanathan, and Dr. Michael Wang to the Scientific Advisory Committee. As of January 2013, this international Scientific Advisory Committee is comprised of experts from Canada, England, France, Italy, Scotland, and the United States. CTWHH is honored to have such distinguished experts serving on the committee. Members of CTWHH's Scientific Advisory Committee currently include:

 

Dr. Hugues Chabriat - France
Dr. James Grotta - USA
Dr. Raj Kalaria - England
Dr. Keith Muir - Scotland
Dr. Leonardo Pantoni - Italy
Dr.
Stephen Salloway- USA
Dr. Viera Saly - Canada
Dr. Swathi Sathe - USA
Dr. Anad Viswanathan - USA
Dr. Michael Wang - USA
 

OUR MISSION STATEMENT HAS BEEN REVISED 


CADASIL Together We Have Hope is devoted to promoting awareness, education, support, and research for CADASIL patients, families, friends, and health care providers. We are dedicated to enhancing the established communication network among families as well as identifying sources of medical care and social services. We foster advocacy and open communication among all stakeholders as we work collegially to find a treatment or cure for CADASIL.
 

 

A SIMPLIFIED UNDERSTANDING OF THE DESCRIPTION OF CADASIL VIDEO 

A video has been placed on the website in which Professor Chabriet explains CADASIL in simplified terms. In just 3 1/2 months, the video has been viewed over 562 times! The Board of Directors at CTWHH appreciates Dr. Chabriet's support of our awareness and education efforts!  Click here to view the video.  

 

 

MEDICAL UPDATES: THE BOARD OF DIRECTORS AT CTWHH RECEIVED CADASIL UPDATES FROM A FEW OF OUR MANY AFFILIATED EXPERTS.

 

Dr. Joseph Arboleda-Velasquez, Investigator, Schepens Eye Research Institute/Mass Eye and Ear Infirmary & Instructor, Harvard Medical School: Work is going well in the lab with our first tests of the drug that we hope could help in treating CADASIL. The drug will be tested in mice in the early spring. I was able to engage two very talented Research Assistants for this task one from U. of Mass and the other from the Peninsula University in the UK.

 

Dr. Jose Biller, Professor and Chairman, Department of Neurology, Loyola University Chicago Stritch School of Medicine: In February I will be speaking on "Monogenic Hereditary Small Vessel Diseases of the Brain - CADASIL, CARASIL, Retinal Vasculopathies with Cerebral Leukodystrophies and COL4A1 Related Disorders - An Update" at the 26th Annual Practicing Physician's Approach to the Difficult Headache Patient in Rancho Mirage, California.

 

Dr. Jennifer Majersik, Assistant Professor of Neurology and Stroke Center Director at the University of Utah, Dr. Michael M. Wang, Assistant Professor of Neurology and Director of Molecular Stroke Research in the Department of Neurology at the University of Michigan & Physician in the Neurology Department at the VA Ann Arbor Healthcare System, and Dr. Anand Viswanathan, Associate Director of the Partners Telestroke Program at Massachusetts General Hospital; Member of the Massachusetts Alzheimer's Disease Research Center; Staff Neurologist in both the Stroke Service and Memory Disorders Unit at Massachusetts General Hospital; & Assistant Professor of Neurology at Harvard Medical School: The many CADASIL clinicians and researchers were so grateful to be able to meet so many patients, families, and community organizers at the recent CADASIL conference in Salt Lake City. We'd like everyone to know that the conference has galvanized the U.S. CADASIL physician community to come together. We are in the planning stages of developing a registry with the ultimate goal of preparing for a trial. This will take several years but hopefully we'll be able to get the registry off the ground in 2013. Thus more to come in the future!

 

Dr. Leonardo Pantoni, Staff Neurologist at the Department of Neurological and Psychiatric Sciences of the University of Florence, Italy & Professor at the School of Neurology and the School of Child Neuropsychiatry at the University of Florence, Italy: We had a paper published in the November issue of Stroke - the Journal of the American Heart Association. It is about a clinical-MRI score that can be used to screen patients for NOTCH3 evaluation. As you can see in the paper, it has good sensitivity and specificity. We do hope it will become a tool for researchers and clinicians who see potential CADASIL patients. You can click on this link: http://stroke.ahajournals.org/content/43/11/2871 for the full eight page article or you can e-mail CTWHH and will be glad to e-mail you the pdf.

 

Dr. Raj Kalaria,Professor of Neuropathology (Cerebrovascular Pathology) at the University of Newcastle upon Tyne, UK and the Institute for Aging and Health, Newcastle General Hospital:   I will report on the initial results of the CTWHH registry data at an international meeting (Brain Ageing and Dementia in Developing Countries for WFN-EFNS-IBRO and WHO) I am chairing in December. This meeting (to be held in Nairobi, Kenya) will be a landmark one to compile all the data on vascular causes of dementia worldwide. It will not only discuss CADASIL but stroke and vascular dementia are on the program.  

 

Dr. Keith Muir, SINAPSE Professor of Clinical Imaging & Consultant Neurologist, Institute of Neurosciences & Psychology, University of Glasgow, Southern General Hospital Glasgow, Scotland: We recently presented some findings from our large CADASIL clinic at the UK Stroke Forum, published in the International Journal of Stroke supplement and have obtained funding for some studies that we have been hoping to do for some time, so he is hopeful that we will be able to take things forward.  

 

Dr. Anand Viswanathan, Associate Director of the Partners Telestroke Program at Massachusetts General Hospital; Member of the Massachusetts Alzheimer's Disease Research Center; Staff Neurologist in both the Stroke Service and Memory Disorders Unit at Massachusetts General Hospital; & Assistant Professor of Neurology at Harvard Medical School: The Massachusetts General Hospital (MGH)Stroke Service actively evaluates and follows many patients with CADASIL and other small vessel diseases of the brain in the greater New England area (http://www2.massgeneral.org/stopstroke/index.aspx). Consultations to evaluate patients can be arranged by referral to the MGH outpatient Stroke/CADASIL clinic (telephone number: 617.726.8459). An active research collaboration on CADASIL has been established between members of the MGH Stroke Service and colleagues in Paris and Munich. Efforts are currently underway to establish a North American CADASIL network with centers who treat patients with the disease.  

 

Dr. Michael Wang, Assistant Professor of Neurology and Director of Molecular Stroke Research in the Department of Neurology at the University of Michigan & Physician in the Neurology Department at the VA Ann Arbor Healthcare System: We still have a group of dedicated scientists working to understand CADASIL at a very fundamental level. My research laboratories are located at the University of Michigan and the Ann Arbor Veteran Affairs Hospital. As of 2012, my CADASIL Research Group includes three core scientists with graduate level training and a cohort of young, enthusiastic undergraduate students from the University who volunteer to do research with us. Over the past year, we have identified several proteins that build up in CADASIL vessels and are working on finding out how they affect the brain. Much of our recent progress has been driven by contributions from the broad-based CADASIL community. Thank you for providing funding, tissue donations, and moral support for our work!

2012 ADVOCACY ACTIVITIES AND ACCOMPLISHMENTS  

CADASIL TWHH continued to focus on its mission in 2012 by "promoting awareness, education, support, and research for CADASIL patients, families, friends and healthcare providers." CTWHH also continued to enhance the "established communication network among families as well as identifying sources of medical care and social services." Some of the 2012 advocacy activities and accomplishments included the following:            

 
Placed information on the front page of the website, as well as sent e-mails out to all registrants, on how to help with Hurricane Sandy relief efforts. As you know, Hurricane Sandy was one of the worst storms ever to hit the eastern U.S.A. Thank you to those who donated funds directly to assist with the families of this horrible tragedy.  


Created a visual map of confirmed CADASIL cases around the world.

Announced in April 2012 a Canadian study by the Heart and Stroke Foundation Centre of Ontario entitled  "Evaluating Compromised White Matter Cerebrovascular Reactivity in Individuals with CADASIL" after review by CTWHH's Scientific Advisory Committee.

Established Caregivers Support Forum in the Spring of 2012.


Served in an advisory role to Canadian colleagues as they began steps to establish a CADASIL organization.

 

Videotaped Dr. Chabriet in September 2012 explaining CADASIL in simplified terms. Uploaded the segment to the CTWHH website.

 
Announced the addition of Dr. Leonardo Pantoni, Dr. Keith Muir, Dr. Viera Saly, Dr. Anad Viswanathan and Dr. Michael Wang to the CTWHH's international Scientific Advisory Committee during 2012. As of 2012, the international Scientific Advisory Committee is comprised of experts from Canada, France, Italy, the United Kingdom, and the United States.

 

Redesigned the CTWHH website to be more user friendly as well as added more information such as public disclosures, accomplishments, and the like.

 

Became affiliated with the Coalition for Imaging & Bioengineering Research (CIBR). Some of CTWHH's affiliations now include: American Brain Coalition; Brown Research, Rhode Island; CADASIL France Association, Paris, France; CADASIL Research, London, England; CERVCO, Lariboisi�re Hospital, Paris, France; Coalition for Genetic Fairness; Coalition for Imaging & Bioengineering Research (CIBR); Genetic Alliance; Loyola University Medical Center; Ludwig-Maximilians-Universit�t M�nchen, Germany; Memory and Aging Program, Butler General Hospital, Rhode Island; New York Lagone Medical Center; New York School of Medicine; Newcastle University, Newcastle, England; National Organization of Rare Disease (NORD); Perelman School of Medicine, University of Pennsylvania; St. Georges Hospital, London England; United Leukodystrophy Foundation; University of Arkansas; University of Calgary, Canada; University of Florence, Italy; University of Glasgow, Scotland; and the University of Michigan Medical School.  
 
 

Revised the emergency card as well as brochure with vital information after approval from the Scientific Advisory Committee. 

 

Raised awareness for Rare Disease Day (February 29, 2012) with varied activities including two patient advocates attending activities in Washington, D.C. and representing CTWHH.  
 
Brainstormed with the Russell family on how to increase attendance for families and the medical professionals at the CADASIL Conference held in Salt Lake City, Utah in September 2012. CTWHH, on behalf of the Russell family, contacted over 1,800 CADASIL patients/families as well as medical professionals to raise awareness for this conference.  

Supported Expanding and Promoting Expertise in Review of Rare Treatments (EXPERRT) Act, HR 4156 and S 2281 to make
it easier for the FDA to access outside expertise needed to understand the science behind new drugs intended to treat rare diseases.

 

Supported HR 613 which acknowledged the need for increased investment in the neurosciences to advance scientific discovery and improve Americans' quality of life.  


Supported the revision of the proposed Essential Health Benefits (EHB) prescription drug coverage standard.

E
ncouraged Senate and House Appropriation Committees to provide the largest possible FY 2013 302(b) allocation to the Labor, Health and Human Services, Education and Related Agencies Appropriations Subcommittee within the discretionary cap established by the Budget Control Act (BCA).

 

Began awareness campaign to educate medical students on CADASIL. 

 

CADASIL REGISTRY INFORMATION

 

Please sign the registry as we need to have everyone with CADASIL documented for research and statistical purposes. The registry is available in three different languages. Make your number count!
 

If you previously signed the registry and didn't provide your blood type and mutation, please e-mail the information as this important information will help researchers. Remember: All provided personal information is kept strictly confidential! 

Click her to sign the registry.

  

TAKE A LOOK AT HOW THE CADASIL REGISTRY DATABASE HAS GROWN OVER THE YEARS
 

 

  523 confirmed cases (July 2006)

  568 confirmed cases (January 2007)

  702 confirmed cases (August 2007)

  796 confirmed cases (May 2008)

  858 confirmed cases (April 2009)

1,005 confirmed cases (March 2010)

1,087 confirmed cases (December 2010)

1,162 confirmed cases (July 2011)

1,239 confirmed cases (December 2011)

1,301 confirmed cases (December 2012)

CADASIL REGISTRY DATABASE STATISTICS
  
Average Age at Diagnosis
           Gender
 1% - Under 19 years old
     57% - Females
 5% - 20-29 years old     43% - Males
19% - 30-39 years of age
29% - 40-49 years of age
30% - 50-59 years of age
14% - 60-69 years of age
 2% - 70-83 years of age

WAYS YOU CAN ASSIST

 

If you cannot donate directly to us, there are several ways you can assist. Look under the heading "CADASIL Awareness" and subtitle "Ways To Help" for more information.

Go to www.goodsearch.com and select CADASIL TWHH as your charity of choice. They donate about a penny each time you search! Just 500 people searching four times a day will raise about $7,300 in a year without anyone spending a dime. Spread the word to your friends, family, and business associates. Make www.goodsearch.com your homepage!

Raise awareness with t-Shirts, U.S. Postage stamps, bumper stickers, etc. through www.zazzle.com as a percentage of the sales goes directly to us.

Use www.igive.com when you shop online. You generate donations by shopping online and the website has discounts for you when you do.

When you shop at Tom Thumb or Randall's grocery stores, a donation of 1% of your purchases goes to CTWHH.

As you discover other resources, please let us know. Thank you so much for your continued support as "Together We Have Hope!"   

 EXERCISES THAT BOOST MEMORY


These tips and mental exercises can keep your brain sharp.
Like your muscles, your brain needs regular workouts to stay healthy and fit as you age. Why? Just as we lose some muscle as we get older, our brains can atrophy, too. More specifically, your brain's "cognitive reserve"- or its ability to withstand neurological damage due to aging and other factors without showing visible signs of slowing or memory loss - diminishes through the years. That can make it more difficult to perform mental tasks. But, just as weight workouts add lean muscle to your body and help you retain more muscle in your later years, researchers now believe that following a brain-healthy lifestyle and performing regular, targeted brain exercises can also increase your brain's cognitive reserve.  To find out more click here . . .  

 

If you wish to receive this newsletter in the mail, please e-mail us your name and address or click here to print.


Don't forget to give a copy of this newsletter to your family, friends and the medical community.    

 
The Board of Directors wishes everyone a prosperous and healthy 2013!

Sincerely,
Billie Duncan-Smith, Deborah Ewald and
Kalletta Pemberton 
  
CADASIL TOGETHER WE HAVE HOPE
NONPROFIT ORGANIZATION
 

Current and back issues of the newsletters are available on the website's newsletter page at

www.cadasilfoundation.org.  If you would like to comment or contribute an article, please call us. Thank you for those who contributed to this newsletter. Please remember you are not alone!

 

Contents of this newsletter do not necessarily reflect the views or policies of CADASIL Together We Have Hope Non-Profit Organization. The mention of trade names, commercial products, or organizations in no way constitutes an endorsement. This newsletter is for informational purposes only and should in no way be considered medical advice.