Gaucher Community News - National Gaucher Foundation
Gaucher Community News - National Gaucher Foundation
Gaucher Community News - National Gaucher Foundation
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<strong>Gaucher</strong> disease can<br />
affect anyone.<br />
For over 26 years our donors<br />
have helped support services,<br />
education and outreach.<br />
<strong>Gaucher</strong> <strong>Community</strong> <strong>News</strong><br />
Spring, 2011 Donor Issue<br />
Founded by Rubin Bakin<br />
Published by the <strong>National</strong> <strong>Gaucher</strong> <strong>Foundation</strong>
WORLD Symposium 2011<br />
By Rhonda P. Buyers<br />
The WORLD Symposium has become the<br />
annual meeting to attend for representatives of<br />
the Lysosomal Storage Disorders (LSD) world.<br />
Researchers, physicians, patient organizations,<br />
parents, patients and pharmaceutical companies<br />
were in attendance at this meeting during February<br />
16th through 18th, in Las Vegas, NV.<br />
Sessions ran from 8:00 a.m. to 5:00 p.m. each day,<br />
with a total of 70 presentations given by many of<br />
the most well-known experts in the LSD field. As<br />
to the topic of <strong>Gaucher</strong> disease, some of the take<br />
home messages for the <strong>Gaucher</strong> community were:<br />
- More researchers are working on the<br />
<strong>Gaucher</strong>/Parkinson connection;<br />
- After two years, eliglustat tartrate (the<br />
oral drug now in clinical trials by Genzyme)<br />
has proven to be safe and efficacious and<br />
radiologic monitoring demonstrated progressive<br />
improvement of <strong>Gaucher</strong> disease Type 1 bony<br />
manifestations;<br />
During the meeting, an announcement was made<br />
regarding Genzyme’s sale to Sanofi-Aventis SA.<br />
Many Genzyme employees were in attendance,<br />
so I had the opportunity to meet and discuss<br />
with them the impact this would have on the<br />
<strong>Gaucher</strong> community. I was reassured, at all<br />
levels, including by John P. Butler, President,<br />
Personalized Genetic Health, that the <strong>Gaucher</strong><br />
community would see no difference in the<br />
excellent service it has experienced over the<br />
years--patients will remain the priority.<br />
Also, relationships will remain as they have been.<br />
I attended a meeting with Genzyme in which we<br />
were given an update on the new Framingham<br />
plant and reassured that everything possible is<br />
being done to insure a drug shortage such as the<br />
one in 2009 will not reoccur.<br />
Additionally, I had the opportunity to meet with<br />
representatives from several other Lysosomal<br />
Storage Disorder groups. Patient Organizations<br />
were in attendance from as far away as the UK<br />
and New Zealand.<br />
One of our goals as a group was to determine<br />
what role we play in the process of determining<br />
research projects that are presented to the NIH<br />
for funding, as the NIH mandated that the Patient<br />
Organizations’ support be an integral part of this<br />
process. We also talked about how or if we want<br />
to work together outside of the LSD Network.<br />
This was a very busy, worthwhile conference,<br />
and one which I was very happy to have<br />
attended. I look forward to next year’s 8th<br />
Annual WORLD Symposium.<br />
- Clinical trials of the oral delivery of<br />
prGCD, using the enzyme replacement therapy<br />
taliglucerase alfa, are planned in the future.<br />
2
Brian E. Berman<br />
In our efforts to remain current<br />
and relevant, the <strong>National</strong> <strong>Gaucher</strong><br />
<strong>Foundation</strong>’s website. logo, collaterals<br />
and ads and internet banners now have<br />
a new look and we are excited to go<br />
forward into 2011 with all of these<br />
wonderful changes.<br />
Extra, Extra, Read All About it!<br />
New President Named to the<br />
<strong>National</strong> <strong>Gaucher</strong> <strong>Foundation</strong><br />
Submitted by Rhonda P. Buyers<br />
March 11, 2011 – Tucker, GA. The<br />
<strong>National</strong> <strong>Gaucher</strong> <strong>Foundation</strong>, Inc.<br />
(NGF) today announced that Mr. Brian E.<br />
Berman, of Berman Enterprises, has taken<br />
the helm as President of the NGF.<br />
Brian joined Berman Enterprises in 2002,<br />
after graduating Summa Cum Laude from<br />
the University of Maryland’s Robert H.<br />
Smith School of Business, with a degree<br />
in General Business. Brian oversees<br />
acquisitions, dispositions, leasing and legal<br />
for Berman Enterprises.<br />
Brian lives with his wife and four children<br />
in Potomac, Maryland. He is a private<br />
pilot and enjoys extreme activities such<br />
as skydiving, bungee jumping, skiing and<br />
trampolining. He is a strong supporter<br />
of charitable causes and enjoys spending<br />
time with his family.<br />
Dr. Robin A. Ely will remain in the position<br />
of Medical Director for the <strong>Foundation</strong>.<br />
3<br />
Please visit our new website at<br />
www.gaucherdisease.org<br />
In 2009, the NGF’s website won the<br />
American Association of Webmasters<br />
Silver Award and in 2010,<br />
it won the gold award.<br />
With appreciation to our<br />
webmaster Magnus Lundqvist who<br />
made these awards possible.
In desperation, I gently grasped his arm along<br />
with a deep glare into his eyes and said, “there<br />
is something wrong; please help us.” The doctor<br />
scattered, read the results and replied in a stuttering<br />
manner, “Mrs. Schiavone, I agree and bear with me a<br />
minute. I will be right back.” That was a bittersweet<br />
suffocating minute.<br />
Emily Schiavone<br />
Genetic Awakening<br />
Submitted by Carla Rose Schiavone<br />
In 2006 I met the man of my dreams unexpectedly<br />
at the cross roads of life. We married and waved<br />
goodbye to our lives as we knew it, and together<br />
began a new chapter without looking back. It took<br />
almost two years to conceive Emily. She was born<br />
three weeks early, had reflux, colic and GI issues<br />
from the start.<br />
Her stomach appeared big from infancy, though<br />
we assumed it to be a Buddha belly.” No doctor<br />
took notice even after pointing it out. She never<br />
presented any thriving issues which I feel aided<br />
the difficult time in diagnosing her. We had her<br />
evaluated with many specialty doctors, children’s<br />
hospitals, etc., with no findings. Every appointment<br />
I felt judged as a neurotic mom. I knew something<br />
was wrong, yet nothing was found.<br />
Emily’s blood levels have always been off and the<br />
Hematology/Oncology doctors were not concerned<br />
due to her frequent colds/ear infections and felt the<br />
levels were a reflection of that. Until finally at 23<br />
months old, a visit to the hematologist's office to<br />
review the recent alarming blood levels.<br />
We ended up getting a different doctor in the group<br />
this day thankfully.<br />
My heart dropped to the pit of my stomach. I knew<br />
we were on our way to getting the answers we<br />
sought for nearly two years. He urged me to take<br />
Emily to the hospital to see his colleague to conduct<br />
more tests.<br />
We had a bone marrow biopsy aspiration, CT<br />
scan, X-rays and an ultra sound done the following<br />
day. We were told she had leukemia and we were<br />
devastated. After that was revealed, we were told<br />
the diagnosis was “premature” and that Emily had a<br />
“storage disease” and to see a geneticist, which we<br />
did. DNA studies were done, and one of the findings<br />
was <strong>Gaucher</strong> Type 3 for which she began having<br />
treatment.<br />
Our family chooses to live in the present. The<br />
could have, would have, should haves in respect<br />
to doctors and how this journey unfolded is<br />
counterproductive. We feel Emily’s diagnosis was<br />
found exactly when it was supposed to, and we leave<br />
the unknowns to the Universe.<br />
I hold hope for pediatrics to integrate the<br />
knowledge of genetic disorders as a possible<br />
indication for any abnormalities in their patients,<br />
and additionally to look outside the box with the<br />
understanding that every child is unique and does<br />
not present the exact same symptoms.<br />
One day at a time and one moment at a time, is the<br />
approach we adopt here in New Jersey. When my<br />
thoughts seem to stray off course, Emily reminds me<br />
the importance of keeping a clear focus on the present<br />
by singing her favorite chant “Happy Sun Heart.”<br />
Carla Rose Schiavone has a website that she hopes will<br />
help others who find themselves in similar circumstances.<br />
www.caringbridge.org/visit/happysunheart/mystory<br />
4
Advancing Treatment Through<br />
Ongoing Research<br />
Submitted by Actelion<br />
Since 1997 Actelion’s founders, Drs. Martine<br />
and Jean-Paul Clozel, have led the company with<br />
a commitment to research and the well-being of<br />
patients. In the fight against rare orphan diseases,<br />
Actelion is committed to bringing innovative,<br />
highly advanced medicines that can make an<br />
important difference in people’s lives and address<br />
unmet medical needs.<br />
Most recently, our team has been busy analyzing<br />
results of a clinical study, that looked at the<br />
long-term safety and efficacy of a treatment for a<br />
genetic disorder. The two-year study completed in<br />
late 2010, and the results were recently presented<br />
for review to an expert investigator meeting. The<br />
results of the study will be presented publically at<br />
an upcoming medical congress.<br />
NGF Members Only<br />
Just a reminder that members of the NGF can<br />
read the newsletters before they are mailed out.<br />
Members can also view back issues of all <strong>Gaucher</strong><br />
<strong>Community</strong> newsletters. We will notify you via the<br />
<strong>Gaucher</strong> listserv when the newsletter is up at our<br />
website.<br />
Go to www.gaucherdisease.org and click on “<strong>News</strong>"<br />
for the NGF <strong>News</strong>letter menu. Members need only<br />
to provide their first and last name to sign in and<br />
read back copies or the latest issues.<br />
A Team Approach to Supportive Care<br />
While we continue to support research into orphan<br />
diseases, we’re also focused on making certain<br />
people who take Actelion’s therapies receive<br />
great support. Actelion works closely with the<br />
specialty pharmacies like CuraScript to provide<br />
supportive care. Staffed by a caring team with<br />
extensive experience in diverse clinical settings,<br />
CuraScript has centralized resources for people<br />
who are receiving treatment. The CuraScript<br />
team provides a wide range of services that start<br />
right from the first time they talk to a patient.<br />
Benefit specialists help patients navigate through<br />
the managed care maze and ensure that insurance<br />
issues are being addressed. Nurses are there to<br />
discuss therapy and answer questions about side<br />
effects, dosing, and other concerns patients may<br />
have. And pharmacy techs monitor the phones 24<br />
hours a day and follow up with monthly contact.<br />
CuraScript reports, “We understand people have<br />
a lot going on, so having someone to talk to each<br />
month helps keep them focused on doing the best<br />
they can on their therapy<br />
<strong>National</strong> <strong>Gaucher</strong> <strong>Foundation</strong> Facebook<br />
Don’t forget to visit the <strong>National</strong> <strong>Gaucher</strong><br />
<strong>Foundation</strong>’s Facebook Fan Page.<br />
Sign up today. Get connected and share with<br />
others.<br />
We invite you to post information that may<br />
be helpful to others, ask questions, join in<br />
discussions, post photos and keep up with<br />
events.<br />
You can access the NGF on Facebook right from<br />
our website at www.gaucherdisease.org. Click<br />
on “NGF on Facebook” from the convenient<br />
menu at the top of the page.<br />
5
Individual Gifts<br />
$5,000 +<br />
Michael & Muriel Grunstein<br />
Donor Tribute<br />
We’d like to thank our generous donors who<br />
gave to the NGF this past year and helped<br />
us to carry out our critical programs and<br />
continue the free services we provide to the<br />
<strong>Gaucher</strong> community. We are at an exciting<br />
time in history with <strong>Gaucher</strong> disease as new<br />
treatments come to market and more and<br />
more research is being done on new and<br />
different treatments. With three treatments<br />
now available and more on the way, people in<br />
the <strong>Gaucher</strong> community, where they once had<br />
no treatment and no options at all, now have a<br />
choice between the treatment that works best<br />
for them.<br />
The NGF is indebted to you, our donors, for<br />
your gracious and generous support of the<br />
<strong>National</strong> <strong>Gaucher</strong> <strong>Foundation</strong> and <strong>Gaucher</strong><br />
disease.<br />
Thank you.<br />
$2,500 - $4,999<br />
Anonymous (1)<br />
Robbin Cooper<br />
Michael Culp<br />
$1,000 - $2,499<br />
James Biggs<br />
Steve D. & Sybil Jaffe<br />
Shirley Klar<br />
Gilbert & Joan Mintz<br />
Stephanie Okey<br />
Leo Sears & Judy Billingsley<br />
Jerry L. & Judith Shulman<br />
Marilyn Vanvick<br />
Muriel Warren<br />
$500 - $999<br />
Anonymous (2)<br />
Richard I. Backer<br />
Sharleen Cohen<br />
Alan M. & Deborah Freedman<br />
Adam & Lauren Kaliner<br />
Ned Kaplin<br />
Russell & Susan Labowitz<br />
Thomas K. Landau<br />
Mark & Patricia Levy<br />
Robert Mann<br />
Barb McFalls<br />
Robert & Jennifer Roback<br />
Charles Alan & Jean Ellen Samuels<br />
Rob & Debby Schiller<br />
Alvin Warsaw<br />
6
Individual Gifts<br />
$100 - $499<br />
$100 - $499<br />
Anonymous (18)<br />
Arlene J. Alpert<br />
Phyllis A. Aquino<br />
Bernard & Barbara Arkules<br />
Lars-Erik Asbjornsen & Cynthia J. Frank<br />
Allison Ashworth<br />
Mr. & Mrs. Stanley Band<br />
Shirley C. Beal<br />
Mary S. Becker<br />
Diane Behlman<br />
Eric W. Bender & Abby M. Brill<br />
Stuart S. Berman<br />
Roger A. & Beth Berman<br />
Paul D. & Lana Berweiler<br />
Rick & Vicki Birdoff<br />
Doug Black<br />
Joshua & Allison Block<br />
James C. Bowen & Tina Johnson Bowen<br />
Mark & Wendy Brand<br />
Dan & Elissa Brito<br />
Irwin & Sybil Broh<br />
Billy & Cathy Brooks<br />
Mario A. Cabrera<br />
Irwin A. Cantor<br />
Dave Caponera & Mamie Wytrwal<br />
Barry Chafetz & Joyce Singerman<br />
Ray & Kelly Chandler<br />
Brad & Beth Cohan<br />
Marsha I. Cohen<br />
Larry Collins<br />
R. Jack Conley & Susan Hansford<br />
Courtney S. & Patricia Craft<br />
Jay Davis<br />
Johnny Deakins<br />
Linda Edwards<br />
Elliot J. Ellis<br />
Richard & Lois England<br />
Harry Epstein & Marilyn Perlman<br />
Michelle Epstein<br />
Juan & Carol Escalante<br />
Larisa Fastovsky Wolfson<br />
Paul & Deborah Fernhoff<br />
Rhoda Field<br />
7<br />
Diane Isaacs Fink<br />
Cathleen M. Finley<br />
Steven B. & Faith Fleischman<br />
Daniel & Eileen Freedman<br />
Martin Freifeld<br />
Harold A. & Vicki Freilich<br />
Douglas & Cari L. Friedfeld<br />
Jeffrey S. & Debbie Friedman<br />
Bert Friedman<br />
Douglas & Wendy Friedrich<br />
Pamela Garnick<br />
Ronald B. Gartenhaus & Marelene P. Ripp<br />
Daniel & Suzanne Geller<br />
Foster S. & Linda Goldman<br />
Chuck & Judy Goodman<br />
Daniel & Debra Grant<br />
Joel & Marcia Greenberg<br />
Keith & Keri Greenwald<br />
Jeffrey M. Hahn<br />
Lisa J. Hamburger<br />
David & Connie Harnick<br />
James & Susan H. Harrison<br />
Jack Hazan<br />
Jon L. Hilkevitch<br />
Brett Hunter<br />
Charles B. & Joyce C. Ingram<br />
Pliny & Liz Jewell<br />
Norman R. Jolley<br />
Jerry D. & Janie A. Jolley<br />
Elizabeth Epstein Kadin<br />
Larry & Lois Kaliner<br />
Steve & Ellen Karel<br />
Barry W. & Sally Karlin<br />
Louisa Katz<br />
Chuck & Diane Kaufman<br />
Barbara Kerner<br />
Steve & Charlotte Kerner<br />
Mark & Nori Klar<br />
James & Judith Klein<br />
Stephen Klinger<br />
Lewis Krinsky<br />
Lisa Kristel
Individual Gifts<br />
$100 - $499<br />
$100 - $499<br />
Melvin F. & Sharan Kushner<br />
Alan J. & Carole Kushnir<br />
Arnold & Sheila Landsman<br />
Vincent J. Leahy<br />
Michele Levine<br />
Roberta Liblit<br />
Laurence Loeb<br />
Bill & Susan Lucco<br />
Kerith Lucco<br />
William Mack<br />
Jeffrey & Judith Marcus<br />
Frank & Monica Margrif<br />
David & Lecia Markowitz<br />
Daniel & Marilyn Marsh<br />
Janet McAloon<br />
Bobby & Deborah J. McFalls<br />
Robert & Karen Meister<br />
John & Stephanie Meyer<br />
Wayne & Mandi Meyerowitz<br />
Peggy C. Michelman<br />
Jesse & Melissa Michmerhuizen<br />
Gina Mundt<br />
Jack & Pearl Nayberg<br />
Ruth Newhouse<br />
Eric & Jenny Newman<br />
Edward & Ying Oshrin<br />
William N. Page<br />
Jane Persky<br />
Burton R. Popkoff<br />
Janet L. Pratt<br />
Richard & Judith Radford<br />
Philip L. Rank<br />
Jon & Beverlee Rendelman<br />
T. Francis Richason<br />
Gregory Robbins<br />
Philip & Stephanie Romm<br />
Thomas & Nancy Rose<br />
Jordan Rosenbaum<br />
Jeffrey Rosenberg & Marcia Cooper<br />
Michael M. & Yvonne Rosenblatt<br />
Herbert & Ina Roth<br />
Daran & Elaine Rubin<br />
Brenda Rubin<br />
Phillip G. Russell<br />
Sheldon & Barbara Schubiner<br />
Scott & Wendy Schwartz<br />
Michael & Valerie Seaver<br />
Scott & Stacy Semel<br />
Judith A. Smart<br />
Sara Smith<br />
Jeremy J. & Corey Spiegel<br />
Irwin & Marion Spirn<br />
Laurence S. & Sharon Spiwak<br />
Kent J. Steinbach<br />
Mr. & Mrs. Frank Stern<br />
Gary & Naomi Stern<br />
Maxwell & Sandra Stolzberg<br />
Richard J. & Susie Sukov<br />
Elizabeth Syrakis<br />
Gary & Sharon Tallent<br />
Leroy & Linda Tate<br />
Hasmukh M. Thekdi & Devila Thekdi<br />
Sidney Glen Tibbs<br />
Shaun & Amanda Tomlinson<br />
Ann Trauth<br />
Panagis & Maria Travlos<br />
Robert Vonsick<br />
Emily Waldman<br />
Gregg & Eileen Warren<br />
Karen K. Weisbord<br />
James Whelan<br />
Martin A. & Gail Wolfberg<br />
Julie Woodard<br />
Martin & Joyce Zuckerman<br />
8
Individual Gifts<br />
$1 - $99<br />
$1 - $99<br />
Anonymous (24)<br />
Loir & Sherri Abraham<br />
Jack & Gail Abrams<br />
Donald C. & Eveline Adams<br />
Michael D. & Janean M. Adelstein<br />
Nina Agel<br />
Gery G. & Sherry Amos<br />
Mr. & Mrs. Karl Apotheker<br />
Phil & Carole Aronson<br />
Sig Badt & Joanne Groshardt<br />
Gunther R. & Maria Bauer<br />
Allan J. & Irene Becker<br />
George & Janie Benckert<br />
David S. & Barbara Bender<br />
Frank & Gloria Bermack<br />
Eddie & Nina Berman<br />
Albert Berman<br />
Carol Cecile Binder<br />
Robert & Judith Block<br />
Danielle Blum<br />
Judy B. Blustein<br />
Joseph & Dorothy Bolotin<br />
David Clark & Nancy K. Bookoff<br />
Lynn Borislow<br />
Howard A. & Rosalie Borovetz<br />
Brian Bortnicker<br />
Jay Brinkley<br />
Vernon Broussard<br />
Steven E. Brown & Lillian Gonzales Brown<br />
Sidney L. & Lorraine Brown<br />
Christopher Burner<br />
Alvin & Betty Canter<br />
David & Lyndy Caplan<br />
Brian G. & Kelly Carlson<br />
Noah & Risa Carp<br />
Muriel Carter<br />
Nancy G. Chaikin<br />
Ruth Chiles<br />
Kirk & Katheryn Citron<br />
John A. & Adri C. Clapp<br />
Mr. & Mrs. Benjamin J. Coburn<br />
Annette Cohen<br />
Mr. & Mrs. Bernard R. Cohen<br />
Harriet Cooper<br />
Jonathan A. & Melissa F. Cordish<br />
Stanley & Marjorie Cotler<br />
Elizabeth Cott<br />
Kathryn Cox<br />
James & Pamela Craft<br />
Josh & Ilaina Davidson<br />
Felino J. & Stacy Deleste<br />
Eva-Lynn Dellaguardia<br />
Anna Digiuseppe<br />
Michael & Catherine Diserio<br />
Susan Dolin<br />
Howard & Erika Douglas<br />
Gertrude Dubowe<br />
Victor G. & Karen C. Eaton<br />
Bob & Leah Edzant<br />
Barbara Ehrlich Greenberg<br />
Risa Erbes<br />
Veronica N. Escobar<br />
Howard & Ella Ettinger<br />
Bill & Rhonda Fackler<br />
Loretta Falk<br />
Don I. & Janet Falkenstein<br />
Frederick A. & Ruth Farber<br />
Richard & Harriet Fein<br />
Richard A. & Michelle S. Fein<br />
Bud & Mimi Feingold<br />
Susan Feinstein<br />
Irene S. Feinstein<br />
Michael I. & Stevy Feldman<br />
Joan Feldman<br />
Juan Fernandez<br />
Pamela Filkins<br />
Harold & Shirley Fingerman<br />
Adam S. & Stefanie A. Fink<br />
Bruce S. Finke & Elizabeth A. Coates<br />
Alex & Lori Finkel<br />
Esther Finn<br />
Eleanor Fisher<br />
Steven & Lynne Fisher<br />
Frances Frankel<br />
Mina Freier<br />
Mr. & Mrs. Robert Freireich<br />
9
Individual Gifts<br />
$1 - $99<br />
$1 - $99<br />
Marcia Friedman<br />
Stanley & Debra J. Friedman<br />
Joshua & Theresa Friedman<br />
Delores Friesz<br />
James Fritz & Karen Cassidy-Fritz<br />
Devon Galvan<br />
David L. & Kimberly H. Garrison<br />
Marc & Sandy Gendleman<br />
Kenneth & Ann Genender<br />
Robin Gersen<br />
David & Susan Gervich<br />
Larry B. & Barbara Getlan<br />
Rodney & Jill Getlan<br />
Elaine Gilbert<br />
Kaye Ginsberg<br />
Stanford & Eileen Glanszberg<br />
Neil M. & Maureen Gold<br />
Michael & Adva Goldberg<br />
Richard & Paula Goldberg<br />
Harry & Fran Goldberg<br />
Eugene & Marilyn Goldenberg<br />
Michael & Susan Goldman<br />
Robert & Juliette Goldsmith<br />
Barbara Goldstein<br />
Alan Gooderum<br />
Eleanor Goodman<br />
Claudia Goodman<br />
Nancy Gordon-Brooks<br />
Ivan & Sharon Graff<br />
William & Bernadette Grasso<br />
Marc & Michelle Gratz<br />
Ruth L. Gribbell<br />
Lisa Grodman<br />
Ron & Ilene Grodzinsky<br />
Stan & Cheryl Gross<br />
Lawrence & Sylvia Haber<br />
Alan & Louise Hallam<br />
Marilyn Halsdorf<br />
Hilla Harf<br />
Harlan R. & Helen M. Harrison<br />
Mr. & Mrs. David Harrison<br />
John J. & Sally Healy<br />
Sol B. & Sandra Heckelman<br />
Eileen Lafferty<br />
Mr. & Mrs. David Landers<br />
Dick & Linda Heil<br />
Louis & Anita Hammerdinger<br />
Richard & Marilyn Hockstein<br />
Joseph R. & Virginia Hollmann<br />
Eve M. Honick<br />
Barry & Helena Horwitz<br />
Melton J. & Lorraine Horwitz<br />
Mary Hoynes<br />
Barbara Hubers<br />
Ruth Moulton Hultz<br />
Claire Jacobs<br />
Norma Jagendorf<br />
Charles G. & Julie Johnston<br />
Clyde L. & Janice Z. Jolley<br />
Jerry D. & Mary Jane Jolley<br />
Stanley M. & Paula Junker<br />
Howard Kades<br />
Shirley Kafker<br />
Cheryl E. Kalb<br />
Howard & Wendy Kamen<br />
Thomas & Maryann Kanelos<br />
Martin & Geri Karno<br />
Fern K. Karp<br />
Morris N. Katz<br />
Charles J. Katz<br />
Rona Kaufman<br />
Judith Kennedy<br />
Jean Kenny<br />
Uri & Michelle Kerbel<br />
Paul & Mary K. Kidd<br />
Koss E. & Mary Jane Kinser<br />
George H. & Dot Kinser<br />
Amy Klausner<br />
Melissa Klawans<br />
Jack Lopez Klein<br />
Adele W. Kleinbaum & Linda G. Kleinbaum<br />
Judith Komor<br />
Alex & Klazina Krammer<br />
Ross & Sheila Kremer<br />
Robert & Suzanne Krupskas<br />
Paul & Susan Kurnit<br />
10
Individual Gifts<br />
$1 - $99<br />
$1 - $99<br />
Leon & Sharyn Lane<br />
Kenneth & Mary Ann Larsen<br />
Jerry & Sandra Lathrop<br />
Barbara Laufer<br />
Louis & Janice Leikach<br />
Adele Lenggenhager<br />
Mart & Roslyn Lessem<br />
Steven & Leslie Leventhal<br />
Judith Levin<br />
Mike & Elizabeth Levin<br />
Shelley Levine<br />
Richard Levitt<br />
Jerome & Sena Levy<br />
Florence Lewis<br />
Shelly Ziebel Lipitz<br />
Mark Lipstein & Anita Brody Lipstein<br />
Alexa Liszcz<br />
Brian & Therese A. Litofsky<br />
Myles W. & Lois Lopatin<br />
David & Leslie Macey<br />
Jean Malkin<br />
Bill Mantinband<br />
Susan G. Markin<br />
Nancy Martin<br />
David & Judith Marwick<br />
Nancy Masters<br />
Laverne D. & Krystal Matherly<br />
Robert J. & Frances Matonte<br />
Edward Thomas & Cynthia McCagh<br />
Dave & Ellen McDermott<br />
Arnold & Doloros Mednick<br />
Symina Meeker<br />
Charles Millard<br />
David Miller<br />
Thomas G. & Mary Jane Miller<br />
Stuart D. & Jacqueline Miller<br />
Susan Millstein<br />
Joseph Mislowack<br />
Joseph Mondell<br />
Bruce Montgomery & Merrill Steibel<br />
Leslie Moore<br />
Amy Murphy<br />
Esther Myers & Hope Myers<br />
Deirdre Nachamie<br />
11<br />
Henry & Amy P. Nachman<br />
Gillian M. Nicholls<br />
Harold & Sylvia Nissen<br />
Robert Novasel<br />
William & Sharon Otte<br />
Ann Overton<br />
John A. & Susan Palmero<br />
Michelle Patterson<br />
Jeri Paulakis<br />
James Peebles<br />
Paul H. & Rosemary Pfau<br />
Benjamin & Teri Rhea Philosophe<br />
Natalio C. & Flavia G. Pincever<br />
Michele Pincus<br />
Andrew & Patricia Pollak<br />
Sol & Elaine Pollan<br />
Sheldon D. & Rena Polun<br />
Mr. & Mrs. Steven Portney<br />
Mr. & Mrs. Leonard Possoff<br />
Linda Ruth Posten<br />
Shannon Powers<br />
David F. & Lena Quadros<br />
Ronald R. & Mary Rahorn<br />
Max & Jane Reid<br />
Mitchell & Allison Reiver<br />
Lois Ferne Rendelman<br />
Eric & Jessica Resnick<br />
Lauri Richmond<br />
Bernie & Nicole Ridenour<br />
Stacy & Donna Roback<br />
Joseph & Irma Roberts<br />
Earl L. Rosenbaum<br />
Wayne D. Rosenfield<br />
Fay Rosner<br />
Ari & Stacy Rothman<br />
Norman & Eleanor Rothstein<br />
Pamela Rothstein<br />
Patricia Rounds<br />
Joshua Rubenfeld & Gina C.R. Fiss<br />
Lewis & Gretchen Rubenstein<br />
Linda Rubenstein<br />
Mr. & Mrs. Michael Rubenstein<br />
Neil & Ronit Rubin
Individual Gifts<br />
$1 - $99<br />
$1 - $99<br />
Earl & Rochelle Rubinoff<br />
Hyman Sandler<br />
Rachel Saphire<br />
William & Janet Savin<br />
Dean R. Schafer<br />
Patty G. Schneider<br />
Herbert & Beverly Schulefand<br />
Robert & Arlene Schupbach<br />
Alan & Roslyn Schwartz<br />
Ken Schwartz<br />
Paul & Judith Schwartz<br />
Stacy Schwartz<br />
Shell & Gloria Scott<br />
Donna Scrima-Black<br />
Mr. & Mrs. Christopher J. Scully<br />
Eugene Seidel & Terry J. Posner Seidel<br />
Francine S. Shabsels<br />
Larry & Betsy B. Shapiro<br />
Foster L. & Marjorie Sherwood<br />
Steven H. Sholk<br />
Kimb Short<br />
Sam M. & Jill Shponka<br />
Kurt R. & Karen Shreffler<br />
Paul & Linda Siecinski<br />
Ivan & Tatiana Simko<br />
Carol Thompson Smith<br />
Daniel E. & Sarita Sragow<br />
Paul & Susan Stamschror<br />
Michael Steese<br />
Martha W. Stewart<br />
Craig R. & Andrea Suchin<br />
Fern Swerdlin<br />
Mark & Sybil Swerdlin<br />
Peter & Bethann Talbot<br />
John M. & Nancy A. Tatko<br />
Donald E. & Janine Tatro<br />
Thomas F. & Marie Taylor<br />
Daniel J. & Kathryn Taylor<br />
Daryl K. & Shaynne Thompson<br />
Bette Thornburg<br />
Leo Tohill & Irene Komor<br />
Frank & Phyllis Trager<br />
Lenore Trimmel<br />
Morris & Eva Tulchinsky<br />
Mr. & Mrs. Michael Tumen<br />
Frances O. Unger<br />
Charles M. & Joan Waldron<br />
Heather Walters<br />
Dorothy Weber<br />
Robert & Mary Anne Weiss<br />
Mike & Fran Weissman<br />
Raymond C. & Susan Wheaton<br />
Myrna White<br />
Herbert A. White<br />
Jean D. Williams<br />
Dorothy Wisotsky<br />
Riza Wittlin<br />
Jeffrey & Marcia Wolf<br />
Leslie Wolfberg<br />
Donald H. & Eileen Wolmer<br />
Kit & Sally Woolsey<br />
Jane Yudell<br />
Gifts in Your Honor<br />
Asking friends and family to give gifts to the<br />
<strong>National</strong> <strong>Gaucher</strong> <strong>Foundation</strong> in your honor for a<br />
special occasion is a great way to help raise funds<br />
for <strong>Gaucher</strong> disease. In lieu of receiving gifts,<br />
your invited guests can send a check directly to<br />
the NGF or donate online at your request. We<br />
can set up a dedicated web page for you so that<br />
they can easily make the donation online and you<br />
can see who has given to your cause. We’ll help<br />
you customize the web page so that you can upload<br />
photos, include links to other web pages and<br />
social networks and send the link via email to<br />
your invited friends and family.<br />
All gifts in your honor will be listed in our<br />
quarterly newsletter.<br />
12
<strong>Foundation</strong>s and Donor Advised Funds<br />
$5,000 +<br />
Raymond and Elizabeth Bloch <strong>Foundation</strong><br />
Esther Stryk Rosen Trust<br />
$1,000 - $4,900<br />
Charif Family Philanthropic Fund<br />
Dawe Family <strong>Foundation</strong><br />
Eileen and Harold Brown <strong>Foundation</strong><br />
Manny & Ruthy Cohen <strong>Foundation</strong><br />
Siemens Caring Hands <strong>Foundation</strong><br />
Wells Fargo <strong>Foundation</strong><br />
$500 - $999<br />
Jewish <strong>Community</strong> Endowment <strong>Foundation</strong><br />
Zemeckis Charitable <strong>Foundation</strong><br />
$100 - $499<br />
Cohen Family <strong>Foundation</strong><br />
The Glickman Charitable Fund<br />
Jewish Communal Fund<br />
The Martin J. & Susan B. Kozak Fund<br />
Savannah <strong>Community</strong> <strong>Foundation</strong><br />
$1 - $99<br />
Lipton <strong>Foundation</strong><br />
<br />
Special Events are held by our generous and<br />
hardworking volunteers to raise funds for the<br />
NGF. The following people held events in<br />
2010 that raised thousands of dollars for<br />
<strong>Gaucher</strong> disease.<br />
Kenneth Lipkowitz<br />
Bobby & Christy McFalls<br />
Daran & Elaine Rubin<br />
Corporations and Associations<br />
$50,000 +<br />
Genzyme Corporation<br />
Pfizer, Inc.<br />
Shire HGT<br />
$10,000 - $24,999<br />
Actelion Pharmaceuticals<br />
Protalix Biotherapeutics<br />
$1,000 - $4,999<br />
Amicus Therapeutics<br />
Delaware Valley Chapter of the <strong>National</strong><br />
<strong>Gaucher</strong> <strong>Foundation</strong><br />
Schlesinger Associates Inc. New Jersey<br />
$500 - $999<br />
Shaw Equipment & Excavating, LLC<br />
$100 - $499<br />
Anonymous (1)<br />
Beth Tfiloh Congregation<br />
Debt Relief Center, Inc.<br />
E. Miller Construction Co.<br />
IMS Shared Business Services<br />
Ladies Philoptochos Society of Holy Trinity<br />
Greek Orthodox Church<br />
Mike’s Body Shop<br />
Naturopath<br />
Network for Good<br />
PriceSpective<br />
$1 - $99<br />
Craftsmen on Call<br />
Devida Publications<br />
Excelsior Engine Company No. 5<br />
GoodSearch<br />
L & K Adashek<br />
Mid-Atlantic Corporate Credit Union<br />
Mountain View Youth Development<br />
Center Staff Fund<br />
New Paltz High School Sunshine Fund<br />
Skillin School<br />
Southwest Nursery<br />
Temple Emanuel of Worcester, MA<br />
13
Bequests, Legacies<br />
and Other Planned Gifts<br />
Bequests, legacies and other planned gifts<br />
are gifts given to the NGF through an estate<br />
plan or will. When gifts are designated to the<br />
NGF this way, they typically provide an estate<br />
tax deduction. There are a variety of options<br />
that exist to help you show your support of the<br />
NGF while maximizing the financial benefits<br />
of charitable giving.<br />
Matching Gifts<br />
Many companies sponsor matching gift<br />
programs and will match any charitable<br />
contribution made by an employee. If your<br />
employer participates in a matching gift<br />
program, you can request a matching gift form<br />
from your human resources department and<br />
send it completed and signed to the NGF with<br />
your gift. We’ll do the rest to ensure that your<br />
company matches your charitable donation.<br />
The following companies matched gifts from<br />
their employees:<br />
Abbott Laboratories Fund<br />
CA, Inc.<br />
Capital One, PAC<br />
Chevron Humankind<br />
Kirkland & Ellis <strong>Foundation</strong><br />
Microsoft Giving Campaign<br />
Tyco Electronics Matching Gift Program<br />
Workplace Giving<br />
The NGF is a member of federations that<br />
coordinate fundraising through workplace<br />
giving campaigns. A donor-determined<br />
amount can be deducted from every paycheck,<br />
spreading the amount of the gift over the year,<br />
or the donor can choose to give a lump sum<br />
gift. The amount is normally taken from the<br />
employee’s pre-tax salary, so that federal and<br />
state taxes are not paid on the gift amount. The<br />
NGF is a member of the Health and Medical<br />
Research Charities of America under the<br />
Combined Federal Campaign and local United<br />
Way organizations. Many companies also<br />
provide other ways for you to give to the NGF<br />
through workplace giving. Please check with<br />
your human resources department to inquire<br />
about their policies.<br />
Future Planning<br />
Give the ultimate gift of life and<br />
consider the NGF in your will.<br />
You can show your support to<br />
future generations of those with<br />
<strong>Gaucher</strong> disease and leave a<br />
bequest, legacy or other planned<br />
gift to the NGF through an estate<br />
plan or will. Check with your estate<br />
planner on how you can help to<br />
show your support of the NGF<br />
while maximizing the financial<br />
benefits of charitable giving.<br />
14
In Kind Donations<br />
In Kind Donations<br />
Greg & Jenine Antonucci<br />
Lars-Erik Asbjornsen & Cyndi Frank<br />
Bed, Bath & Beyond<br />
BluPRint Public Relations /Jill Eisenstadt-Chayet<br />
Bistro Jeanty<br />
David & Lorie Broser<br />
Steven E. Brown, PhD & Lillian Gonzales Brown<br />
Marcia Cooper<br />
Earth, Sea & Sky Vacations<br />
Beth Goozman Elkis<br />
Emery Estate Vineyard / John & Deborah Emery<br />
Ezulwini Game Lodges / Beth Hinkson<br />
Carol Fink<br />
Dana & Steve Flach<br />
Torn & Glasser / Greg & Lissette Glasser<br />
Neil & Maureen Gold<br />
GoodeRider / Lorna Goode<br />
GM Diamond Group<br />
Hagafen Cellars / Josh Stein<br />
Alan & Louise Hallam<br />
Nina Codispoti-Harlan<br />
HINT Inc.<br />
Judd’s Hill Winery /Bunnie Finkelstein<br />
Juicy Couture<br />
Kramer Photography<br />
Alan & Carole Kushnir<br />
Florence Lewis<br />
Kenneth Lipkowitz<br />
LA Kings / Dean & Wandamae Lombardi<br />
Louis & Nan Lowitt<br />
Maluka Clothing<br />
The Marketing Store<br />
Marrakesh Restaurant<br />
Mary’s Pizza Shack<br />
Christine Maringer<br />
C. Dawn Marsalis<br />
Dave and Cookie Metzler<br />
Cindy Sheffield Michaels<br />
Christy Monihan<br />
Mumm Napa<br />
Murad Skincare /Howard Murad<br />
Naomi Evelyn Handmade / Kimberly Pegram<br />
Amy Nordstrom Unique Jewelry / Amy<br />
Nordstrom<br />
Theodore Perlman<br />
Pine Villas Homeowners Association / Celia<br />
Marie Babel<br />
Red Brick Pizza<br />
Red Mesa Cuisine / Lois Ellen Frank<br />
T. Francis Richason<br />
Lois Riker<br />
Wayne Rosenfield<br />
Santa Fe School of Cooking / Nicole Curtis<br />
Ammerman<br />
Julie Schindler<br />
Harvey & Rita Sharinn<br />
Todd Sharinn & Anne Duane<br />
Amy Michelle Smith<br />
Smith Optics<br />
Tina Stolberg<br />
Beverly Thompson<br />
Toesies / Cari Dawn Isolano<br />
Total Health Solutions / Jeff Friedman<br />
Robert & Andrea Trombino<br />
Varka Estiatorio Restaurant /George Georgiades<br />
Shelley Viviani<br />
Nomi Wagner<br />
Barbara Wiedner<br />
Wintergreen Resort<br />
Woodhouse Family Winery / Steve Schneider<br />
Zulu Nyala Game Lodge<br />
15
Tentative NGF Patient Meeting<br />
Schedule for 2011<br />
May:<br />
1st NYU<br />
22nd Dallas, TX<br />
23rd Houston, TX<br />
22nd Denver, CO<br />
TBD Boston, MA<br />
une:<br />
4th or 5th Portland, OR<br />
12th Chicago, IL<br />
26th Las Vegas, NV<br />
August:<br />
27th Columbia, SC<br />
28th Duke/Chapel Hill, NC<br />
September:<br />
11th Iowa<br />
18th Memphis or Nashville, TN<br />
25th Cleveland, OH<br />
October:<br />
2nd - Pittsburgh,PA<br />
9th - Philadelpia,PA<br />
November:<br />
South FL<br />
New Orleans, LA<br />
Are you looking for a doctor who treats<br />
<strong>Gaucher</strong> disease or a treatment<br />
location near you Look no further.<br />
There are several options to help you find a doctor<br />
qualified to treat <strong>Gaucher</strong> disease and a treatment<br />
location.<br />
1) Go to the NGF website at www.gaucherdisease.<br />
org and click on “Treatments/Pharmas.” Under<br />
each pharmaceutical company is a list of locations<br />
that provide that company’s treatment. The lists<br />
are updated on a regular basis as new information<br />
becomes available.<br />
2) Contact the NGF at 800-504-3189 or email us at<br />
ngf@gaucherdisease.org for assistance in locating a<br />
doctor in your area.<br />
3) Contact the pharmaceutical companies directly or<br />
visit their websites.<br />
4) If you are located in a more remote area of the<br />
country and there is not a treatment location near you,<br />
contact the LSD Clinical Care Network at 412-734-<br />
4672 or email lsdccn@gmail.com. The Lysosomal<br />
Storage Disease Clinical Care Network, headed by<br />
Dr. John Barranger, is a newly formed service with<br />
diagnostic and treatment services for individuals with<br />
<strong>Gaucher</strong>, Pompe, Fabry and MPS 1.<br />
Doctors and other <strong>Gaucher</strong> specialists may be added<br />
or deleted from the Treatment Center listings from<br />
time to time, but the above contacts will be able to<br />
assist you with the most up-to-date information.<br />
16
Bringing Hope to People with <strong>Gaucher</strong> isease<br />
Submitted by Genzyme<br />
When it comes to helping patients with rare genetic<br />
diseases, discovering and developing effective treatment<br />
is just the beginning. Once a treatment is fully developed<br />
and the necessary clinical trials have been completed,<br />
regulatory agencies such as the Food and Drug<br />
Administration (FDA) must review all of the information<br />
about the safety and efficacy of the drug and approve it<br />
for use. Then, depending on the health care system in the<br />
country, an agreement to pay for the cost of the medicine<br />
must be reached, usually through either a governmentsponsored<br />
healthcare plan or private insurers. The more<br />
uncommon a disease is, the higher the treatment cost for<br />
a single patient usually is, which means that patients with<br />
rare diseases may not be able to afford treatment on their<br />
own.<br />
In countries with an advanced healthcare infrastructure,<br />
a means is usually found to pay for most drugs that have<br />
been shown to be safe and effective. However in socalled<br />
“emerging markets” – nations whose economy or<br />
healthcare infrastructure are still developing – it may be<br />
that no one can afford to pay for the cost of treatment or it<br />
is difficult to get the necessary insurance.<br />
Genzyme introduced the first treatment approved for<br />
<strong>Gaucher</strong> disease in 1991. From the beginning, Genzyme<br />
leaders knew that just developing ground-breaking<br />
therapies would not be enough to treat the people in the<br />
world affected by <strong>Gaucher</strong> disease. And that was exactly<br />
what our goal was – to help all people with <strong>Gaucher</strong> have<br />
access to safe and effective treatment.<br />
In the early days, treatments were available only in the<br />
United States and some European countries. Eventually<br />
we opened offices in more than 40 countries around the<br />
world. In each country, we work closely with regulators,<br />
health administrators, insurers, clinical experts and patient<br />
organizations to gain approval and pay for the cost of<br />
therapy.<br />
From the early days, we knew there would be <strong>Gaucher</strong><br />
patients who could not afford treatment, and we looked<br />
for ways to make sure these patients could be treated.<br />
Eventually it became clear that we needed a large-scale,<br />
global program to improve patients’ access. In answer<br />
to this need we developed the Genzyme Humanitarian<br />
Program. This program provides patients with <strong>Gaucher</strong>,<br />
Fabry, Pompe, and MPS I diseases with Genzyme products<br />
free of charge. Genzyme distributes the product through a<br />
large international infrastructure.<br />
The Humanitarian Program is guided by an expert<br />
medical committee who makes patient treatment<br />
decisions, monitors and reviews patient progress, and<br />
advises local treating physicians regarding patient care<br />
as well as a board that recommends and approves those<br />
requests.<br />
In designing the Humanitarian Program, Genzyme<br />
knew that we needed to create something that we<br />
could support for the long term. We knew we could not<br />
provide free drug to every patient and still keep our<br />
business going. Therefore we have worked carefully<br />
to set limits and priorities for the Program that allow<br />
us to help patients over the long term. To do this, the<br />
Genzyme Humanitarian Program does more than<br />
provide free drug to patients. It works with physicians,<br />
patient advocates, and government organizations to<br />
increase understanding of rare genetic diseases and<br />
to build sustainable healthcare systems in developing<br />
countries. Currently more than 700 patients in countries<br />
across the globe benefit from the program.<br />
Genzyme’s commitment to our Humanitarian Program<br />
has always been unwavering. During the supply shortage<br />
one of the first decisions that we made was to disregard<br />
charitable status when allocating drug. This means that<br />
patients who receive treatment through our charitable<br />
access programs were allocated drug in the same way as<br />
other patients.<br />
We still have a long way to go in our mission to make<br />
sure that all people with <strong>Gaucher</strong> have access to a safe<br />
and effective treatment. Our supply problems interrupted<br />
access to treatment for patients around the world. And<br />
there are still people with <strong>Gaucher</strong> disease whose illness<br />
goes undiagnosed, who don’t even know that treatment<br />
is possible.<br />
We are working hard to overcome these challenges.<br />
We have new manufacturing facilities coming online<br />
that will greatly expand our capacity to make protein<br />
therapies. We work with the <strong>Gaucher</strong> Registry to<br />
expand awareness of <strong>Gaucher</strong> disease so that more<br />
physicians can recognize the symptoms of <strong>Gaucher</strong>.<br />
And we continue to expand our operations into more<br />
countries, working in each one to develop a healthcare<br />
infrastructure that will allow full and sustainable access<br />
to treatment for all.<br />
For more information, consult your physician. You can<br />
also contact Genzyme at 1-800-745-4447 (option 2).<br />
17
Become a member of the <strong>National</strong> <strong>Gaucher</strong> <strong>Foundation</strong> today!<br />
Help us to better serve you and your family.<br />
The NGF would like to thank all of its members for partnering with us and supporting our services. There’s no other<br />
organization in the US that provides the services we do.<br />
On our website you will find up-to-date information on the latest published research, studies, clinical trials,<br />
approved treatments and <strong>Gaucher</strong> treating physicians and locations. We help connect patients to patients and<br />
patients to physicians. We provide mentors who help you cope with <strong>Gaucher</strong> disease, recommended exercises<br />
by a registered physical therapist, provide current legislation affecting the <strong>Gaucher</strong> community, hold national and<br />
regional meetings and events and publish a quarterly newsletter for our members.<br />
A close-knit and caring <strong>Gaucher</strong> community is very important to families and individuals who have <strong>Gaucher</strong><br />
disease. Your membership helps the NGF to provide you and your family with the support and tools you need<br />
to cope with <strong>Gaucher</strong> disease on a daily basis.<br />
In addition to free services and collateral materials, members receive conference discounts and NGF’s<br />
quarterly newsletter. And, on our website, members can view past copies of <strong>Gaucher</strong> <strong>Community</strong> <strong>News</strong> or see the<br />
latest newsletter even before it is mailed.<br />
Help support our community programs by becoming an NGF member for only $35 per year. Through your<br />
membership, your support helps the NGF to continue these free services to the entire <strong>Gaucher</strong> community. Your<br />
membership helps us to help you. Thank you.<br />
Please mail or fax to the <strong>National</strong> <strong>Gaucher</strong> <strong>Foundation</strong> the bottom part of the completed form below<br />
r go to our NGF Membership form online at www.gaucherdisease.org<br />
Your membership helps sustain support services, programs, education and awareness of <strong>Gaucher</strong> disease.<br />
Please make checks payable to the <strong>National</strong> <strong>Gaucher</strong> <strong>Foundation</strong>, 2227 Idlewood Road, Suite 6, Tucker, GA 30084.<br />
Phone: 800-504-3189 or 770-934-2910 Fax: 770-934-2911<br />
email: ngf@gaucherdisease.org web: www.gaucherdisease.org<br />
<strong>National</strong> <strong>Gaucher</strong> <strong>Foundation</strong> Membership Form<br />
Name______________________________________________________________________________________________<br />
Address____________________________________________________________________________ ________________<br />
City________________________________________________________State________Zip_________________________<br />
Phone________________________________Email_____________________________________________<br />
[ ] I want to become a member of the NGF [ ] I want to make an additional donation<br />
[ ] Enclosed is a check for $_________________<br />
[ ] Please charge $_______________to my: Visa_____ Master_____ AMEX_____ Discover______<br />
Acct. #___________________________________________Exp.Date_________________CCV No.___________<br />
Signature__________________________________________________________________________________<br />
[ ] I am a <strong>Gaucher</strong> patient [ ] I am a family member of a <strong>Gaucher</strong> patient<br />
<strong>National</strong> <strong>Gaucher</strong> <strong>Foundation</strong>, 2227 Idlewood Road, Suite 6, Tucker, GA 30084<br />
Phone: 800-504-3189 or 770-934-2910 . Fax: 770-934-2911 . www.gaucherdisease.org<br />
18
Jonathan M. Cutler<br />
Shire ets the icure<br />
Submitted by Stephanie Mann<br />
Shire Human Genetic Therapies<br />
It’s often said that a picture is worth a thousand words.<br />
And based on a recent Shire Human Genetic Therapies<br />
(HGT) photo shoot with <strong>Gaucher</strong> patients, everyone<br />
involved would probably say that it’s worth so much<br />
more.<br />
Shire enlisted the talents of Glenn Katz, a professional<br />
photographer from Dallas, TX, to take all of the<br />
photographs. In addition to his artistic skills and<br />
experience, Glenn brought to the sessions something<br />
many other photographers lack—he himself has<br />
<strong>Gaucher</strong> disease. “I really enjoyed the opportunity<br />
I was given to photograph people on location. Of<br />
course, this particular photo shoot was even more<br />
special because of the personal connection I had with<br />
everyone. It sincerely was a wonderful experience<br />
meeting all these people and working with Shire,”<br />
said Glenn.<br />
Mathew<br />
Rinaldi<br />
At the end of 2010, Shire reached out to members of the<br />
<strong>Gaucher</strong> patient community to find people interested<br />
in taking part in one of three scheduled professional<br />
photo sessions in Los Angeles, Miami, or New York City.<br />
“We initiated this project because we want to update<br />
our educational materials and websites with photos<br />
of actual people living with <strong>Gaucher</strong> disease,” said<br />
Stephanie Mann, Associate Product Manager at Shire<br />
HGT. here was an overwhelming response from people<br />
all across the country: in all, ranging from <br />
to 65 years old.<br />
The primary goal of this project was to create a photo<br />
library of peoplefrom the <strong>Gaucher</strong> patient community.<br />
It also ended up giving people a chance to share stories<br />
about living with <strong>Gaucher</strong> disease. “The session<br />
fascinating. I had no idea of all the wo that went<br />
into a photo shoot. Having the opportunity to talk with<br />
a couple whose bright young son has the disease was<br />
particularly touching to me,” said Jonathan M. Cutler<br />
of Massachusetts. Phyllis Aquino from New Jersey said,<br />
“One of the most interesting experiences I’ve had was<br />
participating in the Shire photo shoot. Being able to<br />
share my stories with other patients was very positive<br />
for me.”<br />
The Rinaldi family<br />
According to Brenda Rinaldi from Iowa, whose young<br />
son Mathew has <strong>Gaucher</strong> disease, everyone involved<br />
sensed a connection and felt special taking part in the<br />
shoot. “Mathew was so excited to be a part of the photo<br />
shoot,” said Brenda. “He felt like a rock star.” There were<br />
many wonderful portraits taken, making this project a<br />
tremendous success.<br />
“The photo shoots reminded me of why I enjoy working<br />
at Shire, and now we have incredible photographs of<br />
incredible people to use in our materials,” said Stephanie.<br />
Shire does photo shoots from time to time in order to<br />
update its educational materials and websites, including<br />
the OnePathSM website.<br />
Participants in this photo shoot were<br />
compensated for their time.<br />
19
Emma Grunstein<br />
A Tribute to Emma Grunstein’s Family<br />
Submitted by Cyndi Frank<br />
Many people with <strong>Gaucher</strong> look at their disease<br />
as a mixed blessing. It can often be very difficult<br />
living with or being the parent of a child living<br />
with a chronic, debilitating and sometimes lifethreatening<br />
disease. But at the same time, and<br />
sometimes through their suffering and soul<br />
searching, many with this disease have been<br />
fortunate to meet and connect with others who<br />
are going through the same experiences in<br />
life, and many have developed close personal<br />
friendships through the <strong>Gaucher</strong> community. And<br />
that is exactly how the NGF feels about Emma<br />
Grunstein’s family.<br />
It pretty much started with Facebook. Rick<br />
Grunstein, who lives in New Jersey and is the<br />
father of a little girl Emma with <strong>Gaucher</strong> disease,<br />
saw a posting in the profile of an old friend<br />
from childhood camp about a <strong>Gaucher</strong> Walk<br />
in Baltimore. His wife Randi contacted Jenny<br />
Rendelman Schloss who was hosting the Walk<br />
for her daughter Madelyn, and the two hit it off<br />
immediately. Randi jumped on board and helped<br />
raise money in honor of her daughter Emma in the<br />
New York/New Jersey area in support of the Walk<br />
in Baltimore.<br />
Emma was diagnosed with <strong>Gaucher</strong> disease when<br />
she was four years old. On a visit to the doctor<br />
for pink eye, Emma’s pediatrician that her stomach<br />
was a bit distended. When they went back to the<br />
pediatrician the following week everything seemed<br />
fine, but a few weeks later, during Emma’s four-year<br />
visit, the pediatrician saw the notation and checked<br />
and did feel that her spleen was large, so he sent<br />
Emma for an ultrasound. It showed that Emma’s<br />
spleen and liver were both enlarged, typical<br />
<strong>Gaucher</strong> symptoms. They first thought it might<br />
be mononucleosis, and performed a round of<br />
blood tests, then another, and everything came<br />
back normal. They were then sent to a pediatric<br />
hematologist who suggested it might be <strong>Gaucher</strong><br />
disease, but Rick and Randi thought that was<br />
impossible since Rick had been screened for<br />
genetic diseases and he tested negative. What<br />
we know now is that it was a false negative. On<br />
another blood test from little Emma, she tested<br />
positive for <strong>Gaucher</strong> disease.<br />
Not soon after the <strong>Gaucher</strong> Walk in Baltimore, the<br />
Grunstein family’s wonderful Aunt Silvia (Sue)<br />
Liberman passed away and left a generous bequest<br />
to the <strong>National</strong> <strong>Gaucher</strong> <strong>Foundation</strong> in Emma’s<br />
honor. Through this we were able to meet Muriel<br />
(Micki) Grunstein and her husband Michael,<br />
Rick’s parents, members of Emma’s wonderful<br />
family who have also generously supported<br />
<strong>Gaucher</strong> disease and the NGF.<br />
Emma’s family continues to be involved with<br />
the <strong>National</strong> <strong>Gaucher</strong> <strong>Foundation</strong> through<br />
giving generously and becoming involved<br />
with NGF events. During last year’s auction,<br />
Randi graciously offered to help on the auction<br />
committee. Randi is a go getter and helped to get<br />
many wonderful items donated to the auction<br />
and encouraged her friends and family to bid on<br />
the auction site when it was live during the month<br />
of September. Randi’s parents, Harvey and Rita<br />
Sharinn, donated popular Giants football tickets,<br />
which received the most bids in the entire auction<br />
and raised more over its retail value than any other<br />
auction item.<br />
20
Aerin, Rick, Randi and Emma Grunstein<br />
Emma’s entire extended family has been<br />
champions of the <strong>Gaucher</strong> cause and we are<br />
so grateful to every member of that wonderful<br />
family.<br />
Emma received her first infusion of ERT on<br />
February 2nd. Jenny Rendelman Schloss and<br />
her daughter Madelyn filmed Madelyn getting<br />
her infusion and sent it to Emma to help prepare<br />
her. Emma’s twin sister Aerin, who does not have<br />
<strong>Gaucher</strong>, stands by her side and enourages her.<br />
Her parents and grandparents, of course, support<br />
her all the way. And with such a good support<br />
system, Emma endured her first infusion like a<br />
champ. She has what it takes to cope with this<br />
disease. She will be fine.<br />
We’d once again like to thank the entire Grunstein<br />
and Sharinn families for the generosity they have<br />
shown and the support that they have given to<br />
<br />
the NGF and <strong>Gaucher</strong> disease. We cherish their<br />
friendship and dedication. We are fortunate to have<br />
them in our <strong>Gaucher</strong> family.<br />
Go to www.gaucherdisease.org and click on the <strong>Gaucher</strong><br />
Group Listserv button on the homepage to join<br />
gaucherdisease@yahoogroups.com<br />
<br />
<strong>National</strong> <strong>Gaucher</strong> <strong>Foundation</strong><br />
Mission Statement<br />
The <strong>National</strong> <strong>Gaucher</strong> <strong>Foundation</strong> (NGF) is the only<br />
independent, non-profit organization of its kind serving<br />
the <strong>Gaucher</strong> community. The NGF, a non-profit<br />
organization established in 1984, has funded millions<br />
of dollars to support and promote research towards<br />
the cause, treatments and a cure for <strong>Gaucher</strong> disease.<br />
To meet the ever-increasing needs of individuals with<br />
<strong>Gaucher</strong> disease and their families, the NGF offers a<br />
wide range of programs and resources for the benefit of<br />
the <strong>Gaucher</strong> community.<br />
There’s no other organization in the US that provides the<br />
services we do. The NGF funds research, offers financial<br />
assistance, promotes education and awareness, supports<br />
legislative issues and provides outreach programs vital<br />
to the <strong>Gaucher</strong> community. Through The <strong>National</strong><br />
<strong>Gaucher</strong> Care <strong>Foundation</strong>, the CARE Program and the<br />
Care+Plus Program provide critical financial assistance<br />
to individuals with <strong>Gaucher</strong> disease. In support of<br />
medical and lay-community awareness, the NGF<br />
holds live web meetings, national conferences, patient<br />
meetings and seminars and runs national and regional<br />
marketing programs.<br />
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21
Arlene Towers<br />
pictured left.<br />
How Yoga Helped<br />
Transform My Life<br />
Submitted by<br />
Arlene Towers<br />
I was first diagnosed with <strong>Gaucher</strong> in 1992. The discovery<br />
was incidental, resulting from a second liver biopsy that<br />
I had performed in connection with Non-Specific AB<br />
Hepatitis (Hepatitis C had not yet been labeled), which<br />
I contracted through a blood transfusion after having<br />
vaginally hemorrhaged two units of blood in 1972. Since<br />
the liver and spleen work together as complementary<br />
organs of the digestive system, I have a complicated case,<br />
which creates a kind of “double whammy” of exhaustion.<br />
It was that realization that prompted my journey to achieve<br />
wellness and healing.<br />
Fortunately, my journey brought me to Dr. Pramod Mistry,<br />
who has since been guiding my excellent care. I presently<br />
receive enzyme replacement therapy bimonthly at his<br />
hospital center. Both the doctors and nurses are amazed<br />
that I am able to lead such an active life, including my yoga<br />
teaching, walking 18 holes during a game of golf, dancing,<br />
and traveling the world. I believe it is my practice of yoga<br />
that has enabled me to enjoy these life experiences and<br />
thereby enhanced my quality of life.<br />
Before discovering yoga, I tried my best to experience<br />
a full and busy life as an elementary school teacher as<br />
well as a mother and wife. However, I suffered from a<br />
seemingly constant lack of energy, bruising due to the<br />
slightest cause, onsets of extreme fatigue, and anemia<br />
since childhood. I felt as though my body, for reasons<br />
unbeknownst to me, would break down for a week at a<br />
time every few months causing me to feel sluggish and<br />
sick. I was extremely susceptible to colds and respiratory<br />
infections. Several times I had to take months off from my<br />
teaching position, disrupting the continuity of my students<br />
learning. I even needed help in caring for my own son.<br />
During the 1980s, the exercise craze took hold of popular<br />
culture, touted as the common Western answer to help<br />
maintain good health.<br />
I got on the bandwagon and started doing aerobics and<br />
lifting weights, but I found it difficult to keep up in<br />
exercise classes and any benefits were short-lived. I didn’t<br />
feel any stronger but rather felt more exhausted. I tried to<br />
exercise on my own by jogging, but still this did not help<br />
to increase my stamina; I felt weaker. So, I looked into<br />
the gentle Eastern movement practices of yoga and tai chi.<br />
I felt so good after yoga classes, I started spending more<br />
time practicing and studying with different teachers.<br />
Practicing specific yoga poses has helped me transform<br />
my life. The resulting feelings of well-being, calmness,<br />
body awareness, and acceptance have helped counter my<br />
following symptoms:<br />
• Fatigue. Yoga has proven to be a wonderful<br />
remedy for fatigue because I always experience a feeling<br />
of re-energizing after taking the time to practice a series of<br />
poses.<br />
• Bone density. <strong>Gaucher</strong> can lead to fractures<br />
and bone crises, but yoga can gently help enhance bone<br />
structure through gentle weight bearing poses.<br />
• Joint mobility. Yoga can relieve aches and pains<br />
in the joints and body. Instead of popping Advil or Aleve,<br />
I have learned which yoga poses will help me banish the<br />
pain and replace it with release and ease.<br />
• Muscular strength. Yoga has enhanced my<br />
flexibility and strength, which has made my daily activities<br />
easier.<br />
• Natural immunity. Yoga has improved my natural<br />
immunity, so that I feel stronger and have a better ability to<br />
resist colds and viruses.<br />
• Overall well being. Yoga has helped increase<br />
my feelings of well being and calmness, decrease my<br />
depression, and taught me to honor the individuality and<br />
specialness in myself and all human beings.<br />
• Emotional health. Beyond its physiological<br />
benefits, psychologically and emotionally, yoga makes a<br />
positive difference. A disease like <strong>Gaucher</strong> can cripple<br />
even the strongest person, but through the awareness of<br />
breath and meditation, deep strength can be nurtured.<br />
Myth: many people I meet have a misconception that one<br />
needs an inherently flexible body to be able to reap the<br />
rewards of yoga. Truth: yoga is for everyone. Yoga may<br />
not be a panacea, but I believe it represents a powerful<br />
complement to healthcare for any concern (in this case<br />
<strong>Gaucher</strong>, as has been my experience).<br />
To learn more about the benefits of practicing yoga, please<br />
feel free to contact me, Arlene Towers, at<br />
atowers@optonline.net. My wish is for everyone to<br />
experience the benefits of yoga, especially as pertaining to<br />
<strong>Gaucher</strong>.<br />
22
<strong>Gaucher</strong><br />
Mentor Program<br />
a resource for families and<br />
individuals with<br />
<strong>Gaucher</strong> disease<br />
You are never alone.<br />
Our <strong>Gaucher</strong> Mentors are always there for you and your family.<br />
The <strong>National</strong> <strong>Gaucher</strong> <strong>Foundation</strong> (NGF) established the <strong>Gaucher</strong> Mentor Program as a<br />
service to assist the <strong>Gaucher</strong> community in navigating the maze of systems and programs<br />
which families and individuals face in dealing with <strong>Gaucher</strong> disease.<br />
The Program include individuals or their family members who have G aucher<br />
disease and the experiences, knowledge and commitment of people dedicated to helping<br />
others. Our mentors have volunteered to share their collective wealth of knowledge,<br />
resources and personal experience with others to help ease some of the stress and<br />
uncertainty that comes with being newly diagnosed.<br />
For the previously diagnosed and newly diagnosed, Mentors provide an avenue for individuals<br />
to find answers to their questions, resources they can utilize for their families and comfort in<br />
knowing that someone is always there to help them.<br />
Mentors are dedicated to helping change the lives of others by ensuring that no individual<br />
with <strong>Gaucher</strong> disease will ever have to be alone in facing the myriad issues surrounding<br />
<strong>Gaucher</strong> disease. From insurance, to evaluations and management of <strong>Gaucher</strong> disease,<br />
to family and child-related issues and coping with a chronic disease, these knowledgeable<br />
and caring <strong>Gaucher</strong> Mentors, collectively, have dealt with every topic.<br />
For more information or help selecting a Mentor, visit our website at www.gaucherdisease.org<br />
and click on “Program contac the <strong>National</strong> Gucher <strong>Foundation</strong> via email at<br />
ngf@gaucherdisease.org or call us at 1-800-504-3189.<br />
Let us know how we can help you.<br />
23
Message from Genzyme to the <strong>Gaucher</strong> community<br />
Submitted by Genzyme<br />
For thirty years, Genzyme has been pioneering treatments for patients with rare genetic diseases. Our commitment to rare<br />
disease is strong and at the heart of all we do. Earlier this month, Genzyme and sanofi-aventis entered into an agreement<br />
under which sanofi-aventis will acquire Genzyme. Sanofi-aventis is a global, diversified healthcare company, headquartered<br />
in Paris, France and a leader in diabetes, oncology, innovative medicines, vaccines, consumer health care products and<br />
animal health. With this transaction, Genzyme will move into a new phase of our development, continuing our patientfocused<br />
mission and developing treatments that change the lives of people with rare diseases.<br />
Sanofi-aventis and Genzyme have a shared vision for our future together and believe we will emerge even better prepared<br />
to serve you. The plan is for Genzyme to become a division of Sanofi-aventis and global center of excellence for rare<br />
diseases. We will continue to serve the rare genetic disease community as we have done for the past 30 years, and I believe<br />
that Sanofi-aventis will bring important new perspectives and new resources to this work.<br />
As we begin this new phase, Genzyme would like to reflect on the year that has just passed and share with the <strong>Gaucher</strong><br />
community our expectations for the year to come. We have learned from the challenges of the past 18 months and are<br />
completely focused on transforming our manufacturing operations so that patients with rare diseases will have improved<br />
access to Genzyme’s medicines and supply targets are exceeded. We are working to achieve a four-fold increase in<br />
our capacity to produce medicines for rare diseases. Moreover, we are making changes that will increase our total<br />
manufacturing capacity for Fabrazyme-(agalsidase beta) and Cerezyme-(imiglucerase for injection) by 50 percent. This<br />
includes building a new facility in Framingham, MA and making improvements to our Allston landing facility.<br />
Genzyme worked hard throughout 2010 to make the improvements needed to our processes so we could get Cerezyme<br />
supply back on track. Today, we are happy to confirm that supply of Cerezyme in the U.S. is now fully restored. We can<br />
now provide Cerezyme as prescribed for all patients currently receiving therapy with no restrictions on dose or infusion<br />
frequency and we have started to add new patients on Cerezyme therapy in addition to patients who wished to return to<br />
Cerezyme therapy.<br />
We are still working on rebuilding the inventory of Cerezyme that we need to ensure that this type of supply shortage does<br />
not happen again. Once our new manufacturing plant in Framingham is approved by regulators, which we expect to occur<br />
later this year, we will begin to build inventory to provide uninterrupted product supply in the U.S. and EU. Until sufficient<br />
inventory is produced, supply of Cerezyme could still be disrupted if there are manufacturing delays or other unexpected<br />
events. We are completely committed to maintaining the consistent supply we have achieved with Cerezyme and reaching a<br />
similar level of supply with Fabrazyme as soon as possible.<br />
Throughout this time all of us at Genzyme are committed to providing personalized support to patients and their families.<br />
Genzyme’s extensive patient support programs include: providing access to care, identifying insurance or alternative<br />
funding options, sharing information on resources for treatment, testing and medical experts, and offering personalized<br />
support and educational materials. Moreover, our commercial group is among the most experienced and knowledgeable in<br />
the industry with an average of 15 years experience per team member. We are leaders in patient care and will continue to<br />
provide personalized support to patients and their families.<br />
As we embark on another year together, we at Genzyme want to thank you for your understanding and support. Please let<br />
us know if you have any questions or other feedback. For support regarding Cerezyme orders, insurance and billing issues,<br />
infusion agency questions, or additional information about the supply of Cerezyme please contact your Genzyme Case<br />
Manager at 1-800-745-4447, Option 3, or Genzyme Medical Information at 1-800-745-4447, Option 2.<br />
John P. Butler<br />
President, Personalized Genetic Health<br />
24
Suzanne has been a registered<br />
physical therapist since 1978. She has<br />
experienced multiple symptoms from<br />
<strong>Gaucher</strong> disease since being diagnosed<br />
in 1981. She is an advocate and speaker<br />
on the subject of exercise and physical<br />
therapy and has written many articles<br />
on its importance for those who are<br />
living with <strong>Gaucher</strong> disease. She can be<br />
reached by calling the NGF or by email<br />
at suzkrup@comcast.net.<br />
Knee limitations after surgery and<br />
teoporosis in spine<br />
By Suzanne Krupskas<br />
1) Q: Six months ago I had a left knee replacement.<br />
In general, the knee is strong and I am painfree. However,<br />
I’m still not able to fully straighten it. When I was<br />
discharged from physical therapy, (which was three months<br />
ago), my therapist told me that I am lacking 15 degrees<br />
of knee extension. My orthopedist says that I may have to<br />
live with this limitation or possibly be manipulated under<br />
anesthesia to break-up the scar tissue. In lieu of undergoing<br />
this procedure are there any exercises I can do at this point<br />
to help get my knee straighter<br />
S.P. from TN<br />
A: Knee limitations are a challenge, especially six months<br />
after surgery. The soft tissue (muscles, tendons, ligaments)<br />
has become extremely tight and possible adhesions<br />
or scar tissue may develop (as your orthopedist indicated).<br />
Before starting any exercise program inform your doctor. I<br />
would suggest pool exercises if you have access to a heated<br />
pool. The warmth of the water would assist in loosening<br />
the soft tissue surrounding the joint. The following pool<br />
exercises would be beneficial: Place your left heel on a<br />
step with the knee straight and your right leg behind.<br />
Bend forward feeling the stretch in the hamstrings (back<br />
of the thigh) and behind the knee. Hold the stretch for 20<br />
seconds. Rest and then repeat for a total of 3 sets. Walk<br />
back and forth in the shallow end accentuating heel to toe<br />
as you’re stepping for 10 laps. Use a noodle to simulate<br />
biking – accentuating knee straightening for 2-3 minutes<br />
I would also suggest the following exercises: hamstring<br />
stretches on land: Sit on a chair and place a foot-stool in<br />
front of you. Place your left foot on the stool with your foot<br />
facing straight up and your right foot down on floor. With<br />
both hands push your thigh down as you lean your body<br />
slightly forward feeling the stretch in the hamstrings and<br />
behind the knee. Stay in that position for 3-4 minutes.<br />
If the stool is too high, place your left leg in front of you<br />
(heel down) on the floor and push your thigh down with<br />
both hands and hold the stretch for 20 seconds for 3 sets.<br />
Step stretch: Place your left heel on a step, knee is straight<br />
as it can be, right leg on the floor. Lean your body<br />
forward slightly and hold the stretch for 20 seconds.<br />
Rest and repeat 3 sets. Just to remind you, by doing these<br />
exercises it does not guarantee full and normal extension.<br />
However, you still would benefit from doing them to assist<br />
in elongating the muscles, tendons and ligaments with the<br />
possibility of gaining more flexibility and more range of<br />
movement.<br />
******<br />
2) Q: I have osteoporosis in my spine. What exercises<br />
would be beneficial for me I sit in front of the computer<br />
most of the day approximately 7-8 hours. I am sedentary<br />
and need guidance on what to do. Thank you. I’m looking<br />
forward to receive your expert advice.<br />
M.T. from VT<br />
A: Osteoporosis is definitely a disease that requires<br />
immediate attention. If you lead a sedentary lifestyle (as<br />
you say you do) the skeletal system is going to be more<br />
compromised and more at risk for further bone resorption<br />
(breakdown). Bone is living tissue that is constantly being<br />
broken down and rebuilt. This balance leads to healthy<br />
bone. However, if there is more breakdown than rebuild<br />
the result is osteoporosis. To prevent further breakdown and<br />
to assist in strengthening the bones, it is medically proven<br />
that bones need loading type of exercises to become denser<br />
such as weight-bearing and weight-resistance exercises.<br />
Although I suggest you start with the following three exercises<br />
4-5 times weekly, it is a necessity for you to discuss these<br />
exercises with your physician. The following routine hones<br />
in on the erector spinae muscle group; this long muscle is<br />
responsible for stabilizing the entire spine. 1) Stand Shoulder<br />
Blade Pinching: Stand with legs shoulder-width apart, knees<br />
slightly bent, stomach tight (tuck your navel towards your<br />
spine), hold onto 3lb. dumbbells in each hand, elbows bent<br />
90 degrees, palms facing each other, with both hands reaching<br />
out in front of you (do not fully straighten elbows), then<br />
pull arms towards chest as you pinch the shoulder blades<br />
together. Hold the contraction for 3 seconds – repeat for 10<br />
times / 3 sets. 2) Modified Standing Military Press: Standing<br />
position as #1, with both hands start at your shoulders,<br />
palms face forward – elbows are bent, push both arms (at<br />
the same time) up above eye level extending your elbows<br />
then return to starting position. Repeat for 10 times / 3<br />
sets. 3) Trunk Extension: Lie on your stomach (either on your<br />
bed but preferably the floor). Place a small pillow under<br />
your pelvis, head down (face is parallel to the floor), arms<br />
by your sides, raise your head (face is still parallel to the<br />
floor) and chest off the bed/floor and hold that position for 3<br />
seconds – repeat for 10 times / 3 sets.<br />
25
About <strong>Gaucher</strong> <strong>Community</strong> <strong>News</strong><br />
Animated by Daryl Slaton<br />
daryl@octoberrocket.com<br />
Resources for treatment of<br />
<strong>Gaucher</strong> disease<br />
Below is a list of companies that have treatments,<br />
treatment protocols and clinical trials available.<br />
This newsletter attempts to report all items of<br />
interest relating to <strong>Gaucher</strong> disease. The NGF<br />
will not willingly reproduce inaccurate or libelous<br />
material. Information related to treatments,<br />
(current or potential), therapy, research, trials<br />
or studies that are featured in this newsletter<br />
should be discussed with an individual’s<br />
physician. All articles related to research, trials<br />
and studies are submitted for publication by<br />
the entity/organization named in those articles,<br />
and the NGF shall not be held liable for content<br />
therein. The editor reserves the right to reject an<br />
article, make corrections as are appropriate and<br />
in accordance with established editorial practice<br />
in material submitted for publication.<br />
Actelion<br />
Treatment: Zavesca(R)<br />
Website: www.actelion.com<br />
Genzyme Therapeutics<br />
Treatment: Cerezyme(R) (imiglucerase for injection)<br />
Clinical Trials: Eliglustat tartrate<br />
Websites:<br />
www.cerezyme.com<br />
www.expressionofhope.com<br />
www.genzyme.com<br />
http://supplyupdate.genzyme.com/weblog/<br />
Protalix Biotherapeutics<br />
Clinical Trial: prGCD<br />
Websites:<br />
www.protalix.com<br />
http://www.protalix.com/Patients/ProtalixPatientsCare.html<br />
Shire Human Genetic Therapies<br />
Treatment: VPRIV<br />
Websites:<br />
www.bravecommunity.com<br />
www.gaucherpatients.com<br />
www.onepath.com<br />
www.shire.com<br />
For updates on <strong>Gaucher</strong> disease clinical trials in which the<br />
above companies are involved, go to www.clinicaltrials.gov.<br />
Interested in becoming a volunteer<br />
to promote awareness of <strong>Gaucher</strong> disease<br />
• Help with events such as 5K walks, golf<br />
tournaments and NGF’s online auction.<br />
• Organize an awareness and fundraising event<br />
in your community.<br />
• Distribute <strong>Gaucher</strong> flyers/brochures to<br />
community and religious leaders, friends,<br />
family, physicians and local Hillels and other<br />
college organizations.<br />
• Distribute posters and brochures at stores and shops<br />
with whom you do business.<br />
• Send out informational emails to friends, family<br />
and associates.<br />
• Hold a garage or bake sale in your<br />
neighborhood.<br />
• Share your experiences with <strong>Gaucher</strong><br />
disease in the health sections of your<br />
local news group.<br />
Contact the <strong>National</strong> <strong>Gaucher</strong> <strong>Foundation</strong> to see how<br />
you can help promote education and<br />
awareness of <strong>Gaucher</strong> disease.<br />
800-504-3189 or email ngf@gaucherdisease.org.<br />
26
Robin A. Ely, M.D.<br />
Medical Director<br />
800-504-3189<br />
Fax: 770-934-2911<br />
robinbmd@aol.com<br />
Brian E. Berman<br />
President<br />
800-504-3189<br />
Fax: 770-934-2911<br />
ngf@gaucherdisease.org<br />
Contact Us at the NGF<br />
Rhonda P. Buyers<br />
CEO/Executive Director<br />
800-504-3189<br />
FAX: 770-934-2911<br />
rhonda@gaucherdisease.org<br />
..............................<br />
Rosina M. Papantonio<br />
Marketing Director<br />
800-541-7549<br />
850-934-0377 or 850-934-0378<br />
Fax: 904-339-9980<br />
rosina@gaucherdisease.org<br />
Cynthia J. Frank<br />
Director of Development<br />
877-649-2742 or 415-839-5155<br />
Fax: 415-839-5189<br />
cyndi@gaucherdisease.org<br />
Linda Gometz<br />
Executive Assistant and Member Services<br />
800-504-3189 or 770-934-2910<br />
Fax: 770-934-2911<br />
linda@gaucherdisease.org<br />
Kristin D. Matthews<br />
Meeting Coordinator and Project Assistant<br />
800-504-3189 or 770-934-2910<br />
Fax: 770-934-2911<br />
kristin@gaucherdisease.org<br />
Barbara Lichtenstein<br />
Programs Director <strong>National</strong> <strong>Gaucher</strong> Care <strong>Foundation</strong><br />
CARE Program & CARE+PLUS Program,<br />
Care and Care+Plus.<br />
866-346-8176<br />
Fax: 301-963-4489<br />
blichtenstein@comcast.net<br />
NATIONAL GAUCHER CARE<br />
FOUNDATION, INC. (NGCF)<br />
CARE & CARE+PLUS PROGRAMS<br />
Much has changed in the <strong>Gaucher</strong> community. There<br />
have been new treatments approved, new treatment<br />
facilities identified, and many changes in protocol.<br />
We at the <strong>National</strong> <strong>Gaucher</strong> CARE <strong>Foundation</strong> want<br />
everyone to know that the CARE and CARE+PLUS<br />
Programs are available to all individuals, whether they<br />
are on therapy or not. It also makes no difference what<br />
drug has been prescribed by your physician.<br />
The following is a brief summary of both programs:<br />
CARE Program<br />
Eligible Expenses:<br />
Insurance premiums (primary, secondary or both)<br />
Eligibility Criteria:<br />
Anyone with a diagnosis of <strong>Gaucher</strong> disease who cannot<br />
afford their insurance premiums (as defined by the<br />
Advisory Board)<br />
CARE+PLUS Program<br />
Eligible Expenses:<br />
Diagnostic tests and other ancillary medical expenses<br />
for <strong>Gaucher</strong> disease not covered by insurance (excludes<br />
deductibles and co-payments). Infusion charges for enzyme<br />
replacement therapy not covered by insurance (excludes<br />
deductibles and co-payments). Travel expenses for<br />
<strong>Gaucher</strong> evaluations and/or to and from infusion sites.<br />
Over-the-counter medications prescribed for <strong>Gaucher</strong><br />
disease. Other <strong>Gaucher</strong>-related expenses deemed<br />
eligible by the Advisory Board.<br />
Eligibility Criteria:<br />
Anyone with a diagnosis of <strong>Gaucher</strong> disease who<br />
demonstrates an extraordinary financial hardship for<br />
eligible <strong>Gaucher</strong>-related expenses (as defined by the<br />
Board).<br />
If you are interested in these programs or have any<br />
questions, please call (301) 963-4489 or 866-346-8176.<br />
Printable brochures and forms and an application<br />
are online at the NGF website<br />
www.gaucherdisease.org<br />
27
Our donors are the building blocks that help support<br />
the <strong>National</strong> <strong>Gaucher</strong> <strong>Foundation</strong> and its programs.<br />
2227 Idlewood Road, Suite 6<br />
Tucker, GA 30084<br />
Phone: 770-934-2910 or 800-504-3189<br />
Fax: 770-934-2911<br />
email: ngf@gaucherdisease.org<br />
www.gaucherdisease.org