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

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