Cerebral Autosomal Dominant Arteriopathy Subcortical with Infarcts

Cerebral
Autosomal
Dominant
Arteriopathy
Subcortical with
Infarcts and
Leukoencephalopathy
Data presented and created by Billie Duncan-Smith
2
July 1997 - 13 years ago I created the CADASIL Together We Have Hope
website for my family and for others.
http://cadasilfoundation.org/
May 2005 – 5 years ago, CADASIL Together We Have Hope became a foundation
and is recognized by the IRS as a 501(c)(3) organization.
The foundation has no paid staff.
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http://cadasilfoundation.org/
What is CADASIL?
History of CTWHH
Social Security how to file
Brain Donations & Tissue
Bank
Insurance Nondiscrimination Act
Study Results
Links - sites of Interest
Understanding Genetics and
Strokes
Cases around the world
Newsletters
Coping and News Articles
Volunteering
No cost Fundraisers
You can start today!
Doctors Locator
Doctors Resources
Donate
Privacy Policy
Who raised funds for CADASIL
and how?
Personal Families Experience
Registry and make your number count
L-Arginine
Emergency Plans
Research
Forum Online Support
Scientific Advisory Committee
Appreciations
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Our Mission, Vision and Values
Our Mission: We are devoted to promoting awareness, support and
research for this rare genetic disease including patients, families, friends and
healthcare providers. Creating a communication network among families and
identifying sources of medical care and social services.
Our Vision: An environment where affordable diagnosis and up-to-date care
is readily available with cost effective treatment for everyone.
Our Values: Families, Advocacy, Medical Technology, Innovations, Loyalty,
Integrity, Ethical Practices, and Service to Society, which spells out FAMILIES.
Our website complies with the Health On the Net (HON) code standard for
trustworthy health information.
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CADASIL Together We Have Hope Foundation extends an enormous thank you to the following dedicated physicians
and researchers who serve on our Scientific Advisory Committee:
* Hugues Chabriat MD, PhD, Professor of Neurology de Neurologie, Hôpital Lariboisiere, Paris, France
* Dr. James Grotta, Professor of Neurology, University of Texas, Director of the Stroke Program, Houston, Texas
* Raj Kalaria, Professor of Neuropathology at the University of Newcastle upon Tyne, UK and the Institute
for Aging and Health, Newcastle General Hospital England
* Dr. Stephen Salloway, Director of Neurology and Director of the Memory Disorders Program and Professor of
Clinical Neurosciences and Psychiatry at Brown Medical School, Rhode Island
* Swati A. Sathe, MD, MS, Assistant Professor, NYU School of Medicine. Department of Neurology, Division of
Neurogenetics, New York, NY
Former member:
* Gregory M. Pastores, Associate Professor of Departments of Neurology (Genetics) and Pediatrics, New York, NY
Billie Duncan-Smith
Kalletta Pemberton
Debby Ewald
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Stephen Duncan-Smith
Visitors to CTWHH Website
Average 70 Visitors per Day
25, 200 Visitors per year
2,100 Visitors per month
Jun-10
2485
May-10
2654
2207
Apr-10
Mar-10
1897
Feb-10
1916
2182
Jan-10
Dec-09
1804
Nov-09
1798
Oct-09
1979
Sep-09
2110
Aug-09
1951
Jul-09
2217
0
500
1000
1500
2000
2500
3000
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from EarthLink Urchin tracking program
CADASIL TOGETHER WE HAVE HOPE REGISTRY
All information provided to us is kept strictly confidential!
If you have a diagnosis confirming CADASIL, please complete the registry and if you have more than
one family member diagnosed, complete each registry separately. This will assist us and the medical
community. Thank you
Submit
OVERVIEW OF PATIENTS
SIGNING REGISTRY
OVER 5 YEAR PERIOD
1026 REPORTED CASES AS OF JULY 1, 2010
1200
1000
800
600
400
523
200
568
702
796
858
1005
1026
200
0
June 2005
July 2006
January 2007
August 2007
May 2008
April 2009
March 2010
June 2010
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The foundation has the most detailed CADASIL patients registry in the world. We ensure that the registry is
kept strictly confidential at all times. We work directly with the patients by e-mail, mail and post
information on the website and they contact the study directly if interested.
We are proud to say we have or are assisting with the following studies:
*
New York University CADASIL STUDY current - The purpose of this study is to better understand the
early symptoms of CADASIL so doctors may learn to make a diagnosis earlier. (Dr. Swati Sathe)
* Brian tissue donations current– Butler General Hospital (Dr. Stephen Salloway)and
Michigan University (Dr. Michael Wang)
* CADASIL Study – January 2006 – July 2006 A randomized trial of donepezil (Aricept, Eisai/Pfizer)
* Dental Study, June 2006 – University of Nevada Effects of dental problems with CADASIL
patients (Ms. Simmons DMD)
We will continue to work side by side with all CADASIL organizations, doctors, researchers and
groups together and not as a single entity. The channels of communication need to be kept fully
open for everyone concerned to find a treatment or cure for CADASIL.
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Physicians Locator Worldwide
The CADASIL Together We Hope Foundation continues to create a list of physicians who has seen at least one or
more patients with CADASIL.
If you are a patient who would like to have his/her doctor listed or if you are a doctor who would like to be placed
on this list, please contact us at [email protected] If you locate a doctor from this list, please be sure to
let them know that the CADASIL Together we have Hope referred them to you and let them know about out
website.
Disclaimer: Even though CADASIL Together We Have Hope has made every effort to keep this list current. It is very
important for patients and doctors alike to understand that every case of CADASIL is different and patients need to
develop a good relationship with their doctors. The patient should have access to appropriate testing facilities,
genetic counseling and prevention medicines for symptoms.
This Doctors list contains doctors from all around the world.
If any questions arise about any physicians listed on this list please do not hesitate to contact us at:
[email protected] or 1-877-519-HOPE
Please remember the doctors on this list have at least seen one patient with CADASIL.
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SYMPTOMS REPORTED
ASYMPTOMATIC
13%
BALANCE/GAIT
5%
DEMENTIA
3%
FATIGUE
2%
HEADACHES
5%
MEMORY
9%
MIGRAINES
246
98
49
33
97
168
299
15%
MIGRAINES WITH AURA
4%
MOOD/TEMPER
1%
NUMBNESS
5%
SEIZURES
1%
SPEECH
4%
STROKES
19%
SWOLLOWING
1%
TIA'S
10%
VISION
3%
79
28
105
28
67
358
27
197
53
OTHER
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GENDER
NOT REPORTED
6%
MALES
41%
FEMALES
53%
ETHNICITY
1% AFRICAN AMERICANS
1% ASIANS
31% NOT REPORTED
62% CAUCASIANS
1% INDIANS
3% HISPANICS
0.5% HAWAIIAN
0.5% FILLIPANO
13
14
5% AUSTRIALIA - 51 REPORTED CASES
2 ADELAIDE
4 PERTH
1 CABOOLTURE
1 POORAKA
2 CANBERRA
1 QUEENSLAND
1 DEAKIN
3 REDWOOD PARK
2 DONGARA
1 SALE
2 MELBOURNE
6 SYDNEY
1 GERALTON
1 TALLEBUDGERA
1 GOSFORD
1 TOOWOOMBA
1 GRACEVILLE
4 VICTORIA
2 MAITLAND
1 WARRNAMBOOL
1 MANSFIELD
1 WEST AUSTRALIA
4 MELBOURNE
1 WEST LAKES
1 MT ANNAN
1 WEST LEEDERVILLE
1 MURRUMBEENA
2 UNKNOWN
1 N.S.W.
1%
NEW ZEALAND - 9 REPORTED CASES
2 AUCKLAND
1 CAMBRIDGE
1 CHRIST CHURCH
1 NORTHLAND
1 WHANGEREI
3 UNKNOWN
16
1
0% ARGENTINA - 1 REPORTED CASE
1
BUENOS AIRES
1% BRAZIL - 13 REPORTED CASES
1
BARIRI
1
CAME
1
FLORIANOPOLIS
1
SAE PAULO
9
UNKNOWN
VALDIVIA
0% CHILIE - 1 REPORTED CASE
VALDIVIA
1
0% COSTA RICA - 1 REPORTED CASE
0% MEXICO - 1 REPORTED CASE
0% PUERTO RICO - 5 REPORTED CASES
0% SOUTH AMERICA - 2 REPORTED CASES
0% CENTRAL AMERICA - 2 REPORTED CASES
17
0% SAUDI ARABIA - 1 REPORTED
1 RIYADH
0% LEBANON - 2 REPORTED
1BERUIT
1UNKNOWN
18
0% INDIA - 2 REPORTED
1 HYDERABAD
1 PUNE
0% SOUTH ARFICA - 4 REPORTED
1 CAPETOWN
2 UNKNOWN
1 BUENOS AIRES
0% KOREA - 1 REPORTED
1 SEOUL
19
1% ITALY - 7 REPORTED
1 BIBBIENA
1 BREMBIO
1 TERNI
3 LODI
1 MESSINA
0% NETHERLAND - 4 REPORTED
1 AMSTERDAM
1 BLARICUM
2 RAAMSDONKSVEER
0% AUSTRIA – 1 REPORTED
1 SALZBURY
0% BELGUIM - 2 REPORTED
1 ANTWERP
1 WAREGEM
0% CYPRUS- 1 REPORTED
1 LIMASOL
0% FINLAND - 1 REPORTED
1 ESPOO
0% FRANCE - 5 REPORTED
1 AJACCIO
1 PLAISANCE
1 PARIS
1 ROUEN
1 UNKNOWN
0% GREENLAND - 1 REPORTED
1 UNKNOWN
1% GERMANY - 14 REPORTED
3 CELLE
1 DEUTSCHLAND
1 HANAU
3 HANNOVER
1 MUNSTER
1 WESSLING
2 WEST GERMANY
2 UNKNOWN
0% HOLLAND - 1 REPORTED
1 UNKNOWN
0% HUNGARY - 1 REPORTED
1 UNKNOWN
0% SWITERZLAND - 1 REPORTED
1 BERNE
0% NORWAY - 4 REPORTED
1 FREDRIKSTAD
1 OSLO
2 UNKNOWN
0% PORTUGAL - 5 REPORTED
2 LISBION
1 PORTO
1 UNKNOWN
1 VIANA DO
0% SPAIN - 3 REPORTED
1 BARCELONA
1 BURGOS
1 UNBEDA
0% SWEDEN - 4 REPORTED
1 ANGSTORPET
1 DEMENSUTBILDNIG
2 MALMOE
0% TURKEY - 2 REPORTED
2 UNKNOWN
20
7% CANADA 69 REPORTED
1
MARIE
2
MISSISSAUGA
1
ODESSA
1
OTTAWA
1
OWEN SOUND
1
POWELL RIVER
2
QUEBEC
1
REGINA
1
RUTHERGLEN
1
SIMCOE
2
ST CATHERINE’S
1
STEINBACH
5
SUDBURY
2
THOMPSON
2
TORONTO
4 BURLINGTON
4
EDMONDTON
4 CALGARY
1
EMBRUN
1 COCHRANE
1
FT MCMURRAY
1 COOKSTOWN
1
GATINEAU
1 COQUITLAM
1
HANOVER
1
VANCOUVER
2 DAUPHIN
1
JORDAN
1
VERNON
2 DELTA
1
KAMLOOPS
1
VICTORIA
1 DUNCAN
1
LIMOGS
8
WINNIPEG
1 DUNNVILLE
6
LONDON
21
16% ENGLAND - 63 REPORTED
1
1
1
1
1
1
1
1
1
1
BERKSHIRE
BRISTOL
BUCKS
CAMBRIDGE
COUNTY DURHAM
CROYDON
DARLASTON
DERBY
DONCASTER
DORSET
1
2
2
1
1
1
1
3
2
1
DUNSTABLE
ESSEX
GLOUCESTER
HAROLD WOOD
HILLSHAM
HORNCHURCH
HOVE
LIVERPOOL
LONDON
LOWESTOFT
1
1
1
1
2
2
1
1
1
1
2
1
1
3
1
1
2
1
1
1
1
6
2
1
1
1
MILFORD
MILTON KEYS
MORPETH
NEWCASTLE
NORTHWICH
OXFORD
PERSHORE
PETERSFIELD
PLYMOUTH
PONTYPRIDD
PORTSMOUTH
RINGWOOD
ROTHERHAM
RUSHWICK
SHEFFIELD
SOUTH WALES
SOUTH YORKSHIRE
SOUTHHAMPTON
ST. ANDREWS
SURREY
TADWORTH
UNKNOWN
UPMINSTER
WESTPARK
WINKLEIGH
WORCHESTER
22
2% IRELAND - 17
1% SCOTLAND - 14
1
ANTRIM
1
DUNDEE
1
CAVAN
1
MORAY
2
CORK
2
EDINBURG
6
DUBLIN
2
LIVINGSTON
1
FINGLAS
2
UNKNOWN
3
GALWAY
3
GLASGOW
1
NEWRY
3
GREENOCK
1
UNKNOWN
1
WICKLOW
23
24
3
ALASKA
9
HAWAII
1
NEW MEXICO
11
ARIZONA
2
IDAHO
16
OREGON
70
CALIFORNIA
2
MONTANA
8
UTAH
18
COLORADO
6
NEVADA
37
WASHINGTON
5
WYOMING
188 REPORTED CASES
25
26 ILLINOIS
34 MICHIGAN -
2 NORTH DAKOTA
16 INDIANA
17 MINNESOTA
24 OHIO
6 IOWA
16 MISSOURI
3 SOUTH DAKOTA
2 KANSAS
2 NEBRASKA
26 WISCONSIN
174 REPORTED CASES
26
5 CONNECTICUT
4 NEW HAMPSHIRE
25 PENNSYLVANIA
8 MAINE
23
8 RHODE ISLAND
35 MASSACHUSETTS
33 NEW YORK
NEW JERSEY
12 UNKNOWN
20 VERMONT
173 REPORTED CASES
27
11 ALABAMA
10 KENTUCKY
13 OKLAHOMA
10 ARKANSAS
10 LOUISIANA
6
1
5
MARYLAND
11 TENNESSEE
31 FLORIDA
3
MISSISSIPPI
25 TEXAS
13 GEORGIA
18 NORTH CAROLINA
DELAWARE
173 REPORTED CASES
SOUTH CAROLINA
3
VIRGINIA
3
WEST VIRGINIA
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Helpful ideas!
For caregivers
and patients
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EXAMPLE
MEDICAL HISTORY
STEVE LAST NAME; DOB July 31, 19XX
ALLEGRIC: BIAXIN and If suspected Cerebral Stroke and MRI exam show stroke Avoid - Thrombolyisis & anticoagulant
treatments,Arteriography, Vasoconstricting medicines (issued from rye ergot or from Tripoptan) and Products aimed at
unblocking blood vessels as they increase the risk of a hemorrhage
Steve’s medicines:
ARICEPT 10MG 1 tab am daily
CRESTOR 5MG 1 tab am daily;
TOPIRAMATE 25MG total 6 tabs, 2 tabs am and 4 tabs pm daily;
VITIMANS - CARDIO SUPPORT 10 mg 2 scoops am/pm daily
LYRICA 100MG 2 tab daily;
JANUVIA 50 MG 1 tab am daily;
DIAGNOSIS: CADASIL (CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND
LEUKOENCEPHALOPATHY) , ANTIPHOSPHOLIPID SYNDROME, NEUROPATHY, DEMENTIA AND PREVIOUS STROKES
DETAILED HISTORY AND RESULTS OF TESTS–
Monday June 28, 2010 – Appointment with Dr. Sara Westgate Neurology neuropathy no change.
Wednesday, June 8, 2010 - Discharged from NAME of Hospital, Home health continued
Monday, June 7, 2010 – Confirmed Antiphospholipid Syndrome , Low blood pressure 65/49
Sunday, June 6, 2010 – Admitted to NAME of Hospital, 3801 N Lamar Blvd, Austin, TX (512) 407-7000
Monday, May 17, 2010 - Home Health Started (name of the place and phone numbers)
December 2003 – Lovenox started (Dr. Grotta)
December 2000 – TEE Procedure (Seton Hospital Downtown ordered by Dr. Grotta)
December 2000 - Antiphospholipid Syndrome (Warfin)
May 2000 – Sugar Diabetes (HEB)
July 1997 – Confirmed with CADASIL – Heterozygous for a C to T base changed at nucleotide 505 of the Notch 3 gene and changes to condon
for arginine (CGC) to one for cysteine (TGC) at amino acid position 169) Reported in cases with CADASIL
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CONTINUED - E X A M P L E
STEVE LAST NAME; DOB July 31, 19XX
HOSPITIALIZATIONS:
October 2002: Seton Hospital – Stroke
June 1997 St. David's for Migraines on Morphine Drip
PRIOR MEDICINES:
Warfin, Rocephin IV, Zosin IV, Dronedarone HCI, Heparin, Claforan, Tosemide, Furosemide, Levaquin, Imitrex, Morphine, Potassium
PHARMACY: Walgreens, 2650 Rm 620, Round Rock, TX 78681, 512-733-6361 NEC of Wyoming Springs & F.M. 620
HOME HEALTH: AMEDISYS, 893 IH 35 NORTH, STE 130, ROUND ROCK, TX 78664 xxx-xxx-xxxx
DOCTORS:
DR. RICK STRAWSER 512-xxx-xxx, PRIMARY CARE PHYSICIANS, 7200 WYOMING SPRINGS, STE # 1500
ROUND ROCK, TX 78681
DR. SARA WESTGATE, AUSTIN NEUROCARE, 5900 SOUTHWEST PARKWAY, BUILDING IV, UNIT 401 AUSTIN, TX 78735 (512) 4586656 FAX (512) 458-1035 HTTP://AUSTINNEUROCARE.COM/
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www.cadasilfoundation.org
www.ulf.org
State Agencies for Independent Living
http://www.workworld.org/wwwebhelp/state_vocational_rehabilitation_vr_agencies.htm
If you locate a link for CADASIL please e-mail [email protected]
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Frederick had CADASIL
5 children have
been tested,
3 have CADASIL
Has 2 Children
Has 2 Children and
1 Grandchild
Have not been
tested
Have not been
tested
Noelle, our
daughter has
no children.
We have 2
Children .
Have not been
tested
Natalie our
daughter has two
children. They
have not been
tested
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To everyone who has supported “CADASIL TOGETHER WE HAVE HOPE”!
34
United Leukodystrophy Foundation
www.ulf.org
2304 Highland Drive
Sycamore, Illinois USA 60178
Phone: (800) 728-5483
FAX: (815) 895-2432
Email: [email protected]
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