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Issue 14 - April 20, 2015
Fabry Focus e-NewsletterApril 20, 2015
Greetings!
Welcome to Spring in the Northern Hemisphere,
We are well into 2015 and two-thirds through Fabry Disease Awareness Monthalready. Our main initiatives this month are celebrating Disease AwarenessMonth, our April 2015 matching gift campaign, taking the next steps in our surveyprogram, and continuing to update several of our community resources. We are thinking about our 5th annual Fabry Family Conference and 6th annualCharles Kleinschmidt Fabry Family Camp in September and preparing forapplication submissions. Families interested in attending the conference and/orcamp should send me an email if you have not already [email protected]. This will ensure you receive timely information. This issue includes: - Fabry Disease Awareness Month proclamation status - 2015 annual conference and camp details- April matching gift campaign- The Shining Star Campaign donor acknowledgements - Save the dates for our annual conference and camp- November, December and Year-End survey contest winners- Results of the January 2014 survey- The information update survey ... participate and win!- Notable medical journal articles- Clinical trials and other research Thank you for your continued participation and support! Proudly serving the Fabry disease community,
Jerry Walter
Fabry Disease Awareness Month
Happy April 2015 Fabry DiseaseAwareness Month
April is International and National Fabry DiseaseAwareness Month. And, as we announced on ourface book page, April 4th (the first Saturday inApril each year) was International FabryWomen's Day.
We have received 27 official proclamations so far this year. More stateproclamations are still expected. State proclamations aren't necessary to declareFabry Disease Awareness Month everywhere; formal proclamations are just anadded bonus from States where we meet their respective eligibility requirements.
Thank you to the following people for your help and support in obtainingGovernors' proclamations in your states. Thank you also to everyone whoattempted to obtain a proclamation this year but were unable for various reasons.Congratulations!
AZ Sue Lucero NC Jerry WalterCO Lori Wise NH Dan KuusistoDE Cindy Westhoff NJ Kim KondakFL Tom Stanziano NV Joe CarikGA Lisa Bacon OH Liz GnidovecIA Chris Larson OK Dan BakerIL Mark Malone OR Sharon DoblinIN Mercedes Schrank PA Debby SchultzKY Becky Winstel SD Staci RosenbrookMA Jennifer McCracken TN Pennye McAnultyMI Theresa Cosentino UT Heather FlaterMN Tim Falencik VA Michael CantrellMS Sandee Pendergrass VT Donna Van Fleet
WV Tara Withrow
2015 annual Camp and Conference
The 6th annual Charles Kleinschmidt Fabry Family WeekendCamp and the 5th annual Fabry Family Conference ... information for families and volunteers
Conference Dates: 24-25 September (Thursday afternoon to Friday afternoon)in Greensboro, North Carolina. All individuals with Fabry and families arewelcome to attend. Travel and lodging assistance is available for those withfinancial constraints. If you have not already emailed with your intent to attend,please let us know as soon as possible.
Camp Dates: 25 -27 September (Friday at 5:30 PM until about noon onSunday) at Victory Junction Camp in Randleman, North Carolina (45 minutesfrom Greensboro).
All families with a child between 6 and 16 with Fabry are eligible to apply. Allexpenses are provided. Applications will be accepted on July 1st. There aresome important pre-application steps to take. To receive this information, emailJerry Walter at [email protected] to be added to the list for pre-application information.
Camp volunteers: Volunteer applications will be accepted on June 1st. Thevolunteer time commitment is from 2:00 PM (at camp) on Friday until about noonon Sunday (depart camp).The Victory Junction volunteer application process hasrecently changed. Please do not use the old forms. If you have not already, pleaseemail Jerry with your intent to volunteer so we may send pre-application andapplication information.
Conference volunteers: If you are unable to volunteer for camp and you do not plan to attend theconference as an individual with Fabry or family member but would like to help,we can always use a few conference volunteers. Please let us know.
In all categories above, an important first step is to email Jerry Walter assoon as possible to let us know your intentions to attend the conference,to attend the camp, or to volunteer. We'll send you important pre-application information.
We look forward to seeing you all there!
April Matching Gift Campaign
In honor of April 2013 FabryDisease Awareness Month
During April the Kleinschmidt Family Foundationgenerously offered to match all individualdonations up to a total of $10,000 to support theCharles Kleinschmidt Fabry Family WeekendCamp in September.
A second family who prefers to remainanonymous generously offered to match a total of$3,000 to support NFDF education and community support programs.
This is a wonderful opportunity to double our Aprildonations to support important community programs.
So far, we have met almost 80% of our goal with only 10days remaining to earn the total matching gifts.
Please make a charitable donation by selecting the Donate Nowbutton above or by sending a check payable to NFDF to NFDF NCOffice, P.O. Box 366, Carrboro, NC 27510
Thank you everyone for your individual contributions and thank you somuch to our wonderful matching gift sponsors to make this importanteffort possible.
Together, we are making a difference for people with Fabry
disease and their families!
Please see the donor acknowledgements below.
An Essential Ingredient to our Success is You!
Shining Star Campaign
Be the Brightest star!
Thank you to all of the shining starslisted below who have contributedsince our last regular newsletter inJanuary 2015 including many peoplewho have contributed so far duringour April matching contributioncampaign.
We are extremely grateful for your generous charitable contributions!
The brightest stars for this period are:
Champion Level ($1,000 or more) -Jeff MinelliDrs. Allan and Bernadette Beyda Ron Dukenski In Honor of Stephen P. Dukenski and In Memory of Carolyn P. Dukenski Barbara FitzpatrickJerry and Angela Walter in memory of Katherine Walter and Ken Walter Recurring monthly donations:
Jamie Hanrahan in honor of the Bohn familyWarren TauschAlex Lane
Our many other generous Shining Stars for this period are:
Leader Level Donor ($500 to $999):
Dr. Robert Desnick with Best WishesJeremy and Alana BeydaDr. David Beyda
Advocate Level Donor ($100 to $499):
James Greiner dedicated to Chuck KleinschmidtDiane and Steve Rothman In honor of Jerry and Angela's Anniversary
Robert Brown In memory of Sue Taylor Brown, in honor of Jim, Sarah, and Amanda BrownDawn Laney Steve DukenskiGeorge DemkoElizabeth GnidovecGary Frohlich In memory of Steven Kertes, Kathleen & Tobin Lee Lee Ann McCoy with sincere thanks to all those who contributed to my research on Fabry disease. Joe Carik In memory of Anita Bova who passed away on February 1st, 2014. Gary Jones dedicated to Charles KleinschmidtSue Emberton in memory of Kenneth and Margarete Wessel Ellen TillotsonSissy KilpatrickTim FalencikMichelle GoodDeborah Addink Spencer in loving memory of Wilma Karsten Ellens Will Martin's sixth grade buddies In honor of Will Martin Jon Stevens In memory of Reina RubellRandall and Lissa EskeDonna Van FleetThe Producers, Inc.Cambia Health FoundationBruce and Sue WalterJeannie ChesneyKen ValenzanoSherry TranchemontagneAndrew HarrisJanice Sullivan in memory of Charles Kleinschmidt
Supporter Level Donors (up to $99)
Sherry Tranchemontagne In Memory of my FatherRose FoleySusan JensenJim BeadnellMelissa Adams in memory of my loving sister, Carolyn P. Dukenski Cheryl Barcomb in honor to Michelle Westveer, Zach Barcomb , and Kim Michael Heather Flater in memory of Steven J. Nelson. Happy Birthday Dad!! Michelle Fowler Linda ClarkSandra FosterLinda Strange in memory of my nephew. Danny Ernspiker. I Love and miss you so much!Ellen Harmon in honor of Heather Nelson Flater, Brandon and Nicole Annalyn Hegemann in honor of Heather, Brandon and Nicole Flater Joy Blevins in memory of Reina RubellEleanor Kupier In memory of Wilma EllensJanice Mohr In memory of Wilma EllensRuth SparksEve Rubell in honor of Josh Rubell Cheryl Barcomb in honor of Jerry Walter for all that he has done for the Fabry communityDan FischlKaitlin KaretkaShirley Emery in honor Cheryl Barcomb
Thank you all for your tremendous support! Every sizecontribution adds up to make a huge difference. You haveour deepest gratitude for being the brightest star you canbe.
On behalf of everyone who benefits from our many programs, thank you so much for your generosity!
We would also like to thank our Sirius sustainers!
Sirius is the brightest star (in fact, star system) in the Earth's night sky. Our Siriuscategory donors make major contributions to provide our annual funding base onwhich to build. Our Sirius sustainers provide the starting point to make ourprograms and services possible.
Thank you! to:
The Kleinschmidt Family FoundationGenzyme Corporation
Shire Human Genetic TherapiesAmicus Therapeutics
2014 Take Our Surveys Contest
The 2014 survey program was a huge success! Congratulations to our November,December and year-end prize drawingwinners!
November winners for $165.00 USD each:
Michelle D. from IdahoClaudia from Ireland
December winners for $157.00 USD each:
Sandee from MississippiGraham from Nova Scotia, Canada
Year-end drawing for $500.00 USD each
Michelle from KansasChris from England
Adults with Fabry disease from Australia, Canada, Croatia, Denmark, England,Estonia, Germany, Ireland, Netherlands, New Zealand, Norway, Poland, Scotland,Spain, United States, and Wales participated.
The average number of participants for each monthly survey was 205 which isawesome.
A total of 407 participants took at least one survey.
A total of 121 participants completed all 12 monthly surveys.
We are compiling the results of all 12 monthly surveys to provide to you in theupcoming months.
Thank you everyone for your tremendous support!We look forward to resuming the survey program later in the year!
January 2014 Survey Results
January 2014 survey summaryAfter the January survey was initially distributed itremained opened the rest of the year. A total of 282people took the survey. Here are the results whichserve to provide insights to the Fabry community.
Females participants = 75% of the total participantsMale participants = 25% of the total participants
U.S. participants = 78%Non-U.S. participants = 22%
About 98% of participants have 3 or fewer people with Fabry living in their home.
About 50 % of the participants have no other family members with Fabry outsidetheir immediate family living within 25 miles/40 kilometers.
About 26% of the participants were the first diagnosed in their family.
There are approximately 900 of the survey participants' family members who mayhave Fabry disease but who have not yet been tested.
About 27% of participants have not had a family tree analysis performed todetermine who else in the family may be at risk for Fabry disease.
About 5% of the females who responded have had a heart attack.About 10% of the males who responded have had a heart attack.
About 5% of female respondents were diagnosed with congestive heart failure.About 10% of male respondents were diagnosed with congestive heart failure.
About 5% of female respondents have an implanted pacemaker or defibrillator.About 13% of male respondents have an implanted pacemaker or defibrillator.
Of all the participants who reported having a pacemaker only about 50% reporteda previous heart attack or a diagnosis of congestive heart failure.
About 3% of female participants had kidney failure.About 27% of male participants had kidney failure.
About 1% of female participants had a kidney transplant.About 21% of male participants had a kidney transplant.
About 19% of female participants had one of more transient ischemic attacks.About 21% of male participants had one of more transient ischemic attacks.
About 5% of female participants had a stroke.About 10% of male participants had a stroke.
About 9% of female participants had progressive hearing loss.About 27% of male participants had progressive hearing loss.
About 2% of female participants had sudden hearing loss.About 10% of male participants had sudden hearing loss.
About 2% of female participants wear hearing aids.About 9% of male participants wear hearing aids.
Fewer than 1% of females have a cochlear implant.About 3% of males have a cochlear implant.
About 65% of female participants experienced no major events above.About 41% of male participants experienced no major events above.
About 46% of participants have one or more immediate family members withFabry disease who have experienced kidney failure, dialysis and/or transplant.
About 80% of participants have one or more immediate and/or extended familymembers with Fabry disease who have experienced kidney failure, dialysisand/or transplant.
About 51% of participants have one or more immediate family members withFabry disease who have experienced a heart attack, have been diagnosed withcongestive heart failure, and/or have a cardiac pacemaker or defibrillator.
About 67% of participants have one or more immediate and/or extended familymembers with Fabry disease who have experienced a heart attack, have beendiagnosed with congestive heart failure, and/or have a cardiac pacemakeror defibrillator.
About 40% of participants have one or more immediate family members withFabry disease who have experienced a stroke.
About 57% of participants have one or more immediate and/or extended family
members with Fabry disease who have experienced a stroke.
About 33% of participants have one or more immediate family members withFabry disease who have had a transient ischemic attack (TIA).
About 40% of participants have one or more immediate family and/or extendedmembers with Fabry disease who have had a transient ischemic attack (TIA).
About 20% of participants have one or more immediate family members withFabry disease who have hearing aids or a cochlear implant.
About 27% of participants have one or more immediate family and/or extendedmembers with Fabry disease who have hearing aids or a cochlear implant.
Among the 185 participants or their family members who had a major medicalevent such as heart attack, congestive heart failure, implantedpacemaker/defibrillator, kidney failure or transplant, stroke, or severe hearingloss, the average age of the event was 35 years old. The age of the first eventranged from one year old to 70 years old. We will further investigate the eventsreported at a very young age and clarify these later.
Among the family members of the 282 participants, 200 male family memberswith Fabry disease passed away at 50 years old or younger.
Among the family members of the 282 participants, 80 female family memberswith Fabry disease passed away at 60 years old or younger.
The oldest living male with Fabry in any of the participants' families is 80 yearsold. We do not know whether the individuals reported have a classic or non-classic mutation so we are unable to determine the significance of thisinformation.
The oldest living female with Fabry in any of the participants' families is 88 yearsold. We do not know whether the individuals reported have a classic or non-classic mutation so we are unable to determine the significance of thisinformation.
In the January survey approximately 60% of participants did not know their familymutation. This information seems to be more important to knowas research continues and new recommendations are provided.
Individuals with Fabry and parents ... please help with this important information update
Six $200 prizes waiting to beawarded ... for a great cause!
We are extending this survey for a while to ensureeveryone has a chance to take it. And, especiallybecause the results will really help others!
All families with Fabry disease should have a chance to benefit from our manyprograms and services. To accomplish this, we need everyone's help!
We published a new survey last month to update several important resources sowe can provide the updated resources and tools to the Fabry community and ...
... to make this important effort more interesting and more successful wepublished the survey in a contest format following the success of the 2014 surveyprogram.
Individuals with Fabry disease 18 and older or parents with kids under 18 withFabry who do not have a parent in their home who also has Fabry disease mayparticipate.
To thank you for your participation, five prizes of $200 will be awarded in arandom drawing of survey participants. Also, a bonus drawing for $200 will beheld for those answering the family mutation question. This survey is open to the global community. Please forward this newsletter andshare the survey link widely. The National Fabry Disease Foundation (NFDF) is gathering information to: - update our Find a Doctor database (a family resource)- update our website population map- update the NFDF contact database to send important news and information- update contact information for those who subscribe to our newsletter - provide our current patient/family member handout explaining our programs- send your wallet size Alert Card USB Drives to everyone with Fabry This is a very short and easy survey to take. WE DO NOT SHARE YOUR PERSONAL INFORMATION WITH ANYONE! Survey link below: https://www.surveymonkey.com/r/March2015InformationUpdateSurvey
Thank you for your support! Please share the survey widely.
Notable Medical Journal Articles
European Recommendations forinitiation and cessation of EnzymeReplacement Therapy
This month the European Fabry Working Grouppublished an important medical journal article in theOrpahnet Journal of Rare Diseases titled"Recommendations for initiation and cessation ofenzyme replacement therapy in patients with Fabrydisease: the European Fabry Working groupconsensus document".
This article provides recommendations that may be used as guidance for startingor stopping enzyme replacement therapy.
The working group placed individuals with Fabry disease into four categories asfollows and made recommendations for each category. (FD = Fabry disease)
Classical FD, malesNon-classical FD, malesClassical FD, femalesNon-classical FD, females
The report indicated three statements for which group consensus wasnot achieved and explained the relevant discussions.
Among the three items where no consensus was achieved was the discussion of"the timing of initiation of enzyme replacement therapy in young maleswith classical Fabry disease without any symptoms or clinical signs of organinvolvement".
The following comment was reported by the working group:
"Although it was agreed that treatment of these patients should not be initiated atthe age of 0-5 years, and that treatment may be considered in patients of16 years or older, some advocated for initiation of treatment at the age of 6-10years (33%) or 11-15 years (47%)."
We would like to thank the authors of this article for taking on this arduous task toprovide some much needed additional guidance to the Fabry community. Welook forward to the U.S. and other non-European for more definitive guidance of asimilar nature.
Please see the full-text article from this link:
Recommendations for initiation and cessation of enzyme replacement therapy inpatients with Fabry disease: the European Fabry Working Group consensus document
Clinical Trial News and other Research
Exciting Progress with Research ...
The Fabry community anxiously awaits more news fromAmicus Therapeutics, Protalix Biotherapeutics,Genzyme, and Canadian researchers in Calgary for theirrespective investigational clinical trials for MigalastatHydrochloride (oral chaperone therapy), PRX-102 (plantcell-expressed enzyme replacement therapy),GZ/SAR402671 (oral substrate reduction therapy), andgene therapy.
While most clinical trials for these investigational therapies may take a few yearsyet, according to the latest press releases Amicus "plans to file for FDA approvalin the second half of this year."
Until Next Time
Thank you all for your continued participation and support! Please
contact me anytime at the phone number or email address below.
We look forward to publishing the remaining monthly survey resultsin the upcoming months.
Please share this newsletter among your friends and familymembers, and others who may be interested.
Proudly serving the Fabry community!
Sincerely, Jerry Jerry WalterFounder and PresidentNational Fabry Disease Foundation
www.fabrydisease.org
Copyright © 2015 All Rights Reserved.
| 800-651-9131 | [email protected] | 4301 Connecticut Ave. N.W.
Suite 404Washington, DC 20008
