Gaucher Community News - National Gaucher Foundation

Gaucher
Community News
Fall/Winter 2009 Issue
This issue is dedicated to the Gaucher
community we serve and support. We wish
you a successful 2010 and a year filled with
good health and hope for the future.
Founded by Rubin Bakin
Published by the National Gaucher Foundation

National Gaucher Foundation
Annual Letter
By Rhonda P. Buyers, Ceo/Executive Director
We’ve dedicated this issue of our newsletter to
the Gaucher community which we serve and
support. This year was a true test of the strength
and endurance of those affected by Gaucher
disease. Genzyme, the producer of the drug
Cerezyme(R), an enzyme replacement therapy
(ERT) suffered a severe setback when a virus, not
harmful to people, was found in the raw product
for Cerezyme. In Genzyme’s desire to err on the
side of caution, production was halted; causing a
shortage of the drug. What followed was a series
of events that few could have predicted. The
unthinkable had occurred. The possibility of not
having treatment was now a reality for the many
patients who relied on Cerezyme.
Our patient population is one of the most resilient
groups of people I have ever had the privilege
of knowing. Their caring and concern for one
another throughout the drug shortage was nothing
short of amazing. One of the most unselfish
gestures I can remember was the willingness
of people to volunteer their own allotment of
treatment to others.
The impact of the shortage was very apparent
throughout the medical community, especially
those who were directly involved with the
treatment of Gaucher patients. The concern and
empathy they shared was palpable. Employees
at Genzyme worked tirelessly to help patients
through the crisis and get their lives back on
track, as pharmaceuticals with newly approved
treatment protocols joined in the effort. Medical
and lay people within the Gaucher community
worked together to make the hard decisions
necessary to assure that treatment was available
for children and those who had the most urgent
need.
With the added strain of the drug shortage, many
more people needed financial assistance this year
and the NGF was called upon to provide that
assistance.
2
The NGF’s financial assistance programs made
it possible for many to receive alternative
treatments by paying for travel and ancillary
expenses. Many travelled great distances from
home in order to begin other treatments, treatment
protocols or expanded clinical trials. In addition
to the NGF’s funding, others provided grants to
help with these expenses, as well.
In an effort to help patients remain on treatment,
the FDA approved treatment protocols for
Shire and Protalix, pharmaceutical companies
which that are producing alternative enzyme
replacement therapies to Cerezyme. Since their
treatments were protocols, both provided their
drug for free. Many patients began the protocols,
while others wanted to wait it out until Cerezyme
became available again. Some suffered through
the wait, as their bodies responded to lack of
treatment.
Town Hall meetings became the order of the
day. Giving press interviews became the norm
for almost anyone in the Gaucher community.
For the press, everyone was fair game and
inaccuracies and stretching the truth became
expected and common. People who never heard
of Gaucher disease before, certainly knew about
it now. Day-to-day business changed drastically
and projects that once seemed important were put
on hold. People’s lives were altered and families
felt the strain. Yes, life changed for the Gaucher
community, but their resilience remained intact.
Today, we are facing a much brighter future.
As a direct result of the events of 2009, more
treatments, treatment protocols and clinical trials
are available. We have the opportunity to further
develop relationships with companies who have
expanded access to treatments and ongoing trials.
Many things happened that touched all of us and
impacted us in ways that we will never forget, but
most of all, I will not forget the dedication, true
friendship and caring of so many.

Emily’s New Adventure
Emily’s New Adventure is an animated video about
a young girl named Emily and her journey with
Gaucher disease She is a happy and adventurous
child who enjoys her life and her family.
Animated by Daryl Slaton
daryl@octoberrocket.com
Thanks for visiting NGF’s online
25th Anniversary Celebration
July to December 2009!
The NGF’s online event will remain up at our website
under “Events.”
To enter the online event, go to www.gaucherdisease.org.
The event is fun for the whole family and features a theatre
which will introduce Emily’s video, a dance room, restaurant,
music room and game room. Most of the characters at the
event are animated to go with the theme of the video.
Although the event is free, the NGF would appreciate any
donations that will go towards developing future educational
projects like Emily’s Journey with Gaucher disease. We
would also appreciate your signing our event Guest Book and
giving us feedback, as well.
Corporate sponsorships of the event are available at the
following levels:
Platinum: $10,000 Gold: $7,500
Silver: $5,000 Bronze: $2,500
(See more information about what each level of sponsorship provides
to the sponsor. Click sponsors at the online event, or contact the
NGF at 800-504-3189 or email us at ngf@gaucherdisease.org)
Sponsors of 25th Anniversary Event
$10.000
Genzyme
Shire Human Genetic Therapies
$7,500
Amicus Therapeutics
$2,500
Protalix Biotherapeutics
3
Emily loved to play in the woods by her house, with
her brother Zack and her sister, Kate. Over time
she wants to play less and less. She doesn’t feel
well, she tires and bruises easily and can’t ride her
bicycle or go on her adventures in the woods.
The program is very colorful and animated with easy
to understand information as Emily and her family
learn that she feels bad because she has Gaucher
disease Type 1. Animated characters explain why
she has it and how it will be managed and treated.
Part of Emily’s adventure involves her trips with her
family, to Philadelphia. Because her family is from
a small town outside of Philadelphia, they must
seek help for Emily through a Gaucher specialist
in the city.
It is our hope that through this educational program,
children and adults alike will be able to learn about
Gaucher disease in a less conventional environment.
Emily has become an integral part of the
National Gaucher Foundation through its website,
newsletters, internet banners and other educational
materials. The video has also been viewed by
thousands of people at Youtube.com.
A complimentary copy of the video has been sent to
the Gaucher treatment centers for their use so that
it can be seen by their patients. DVDs are available
for sale for $10 each at the National Gaucher
Foundation website at its online event.
For more information about Emily’s Journey with
Gaucher disease, please call us at 800-504-3189 or
write to us at ngf@gaucherdisease.org.

Cyndi Frank
Director of Development
Addison
Leigh
Bower
From the Development Office…
It’s been an interesting and trying year for many
people with Gaucher disease, but through crisis
situations and lack of treatment, we have still received
much needed support from our donors and volunteers.
We’d like to thank all of you who have so graciously
and generously helped to raise funds and awareness
for Gaucher disease this past year. We are amazed by
the outreach and continued support we receive from
the Gaucher community to raise awareness and funds
for Gaucher. Thank you for your support.
Because of the Cerezyme shortage, we postponed the
online auction until after the New Year. Please check
our website at www.gaucherdisease.org for dates
when the auction will be held. There will be fantastic
items at below retail prices!!
There were still a variety of other events held this
year in support of Gaucher disease and the National
Gaucher Foundation, including Gaucher Walks, an
Ironman triathlon and an online gaming event. In
total the events raised $18,223.51. Many thanks to
our wonderful volunteers who held these events!
Mathew Rinaldi Janus Charity Challenge
Ironman Competition
Kristofer Kinser competed in the Ironman
competition on August 30, 2009 in Louisville,
Kentucky and raised funds for Gaucher disease and
the National Gaucher Foundation in honor of his
cousin, six-year-old Mathew Rinaldi who has Type 1
Gaucher. Kris completed the competition with flying
colors and his efforts raised $6,343.75.
We’d like to thank Kristofer Kinser, his aunt Brenda
Rinaldi and his cousin Mathew Rinaldi for all they
did in raising funds for this event.
4
Addison Bower Gaucher Walk
Amanda Bower held a Gaucher Walk on September 19,
2009 in honor of her daughter Addison, who has Type
2 Gaucher and was just shy of one-year old at the time
of the Walk. The event was held at Wilson Memorial
High School in Stuart’s Draft, Virginia and raised a
total of $5,044.00.
Many thanks to Amanda Bower, the Bower family and
the sponsors of the event for holding such a fantastic
event:
Gold
Eavers Citgo
Silver
John Slechta
Bronze
Philip Balsley
Beverage, Tractor & Equipment
Mary Kay Sisters
Are you an online shopper
If you’re planning on shopping online, why not raise money
for Gaucher disease at the same time By shopping on the
Internet through GoodShop’s online mall, each purchase you
make will raise money for the National Gaucher Foundation.
The good part is it won’t cost you anything extra!
GoodShop, the shopping partner of GoodSearch, is an
online shopping mall that donates up to 37 percent of each
purchase to your favorite cause. Find deals and coupons
for over 1,000 of the most popular retail stores in their
online shopping mall, including Amazon, Target, Gap,
Best Buy, ebay, Macy’s and Barnes & Noble, Apple Store
and hundreds upon hundreds more. Every time you make
a purchase through the GoodShop shopping mall, you’ll
be supporting Gaucher disease and the National Gaucher
Foundation.
Go to www.goodshop.com and be sure to enter the National
Gaucher Foundation as the charity you want to support.

Dear Gaucher community,
Shire HGT Introduction Letter to Gaucher Community
For those of you that were unable to join our first summit series call on November 16th, we are thankful
to have the opportunity now to formally introduce ourselves to many of you that are just hearing our
name for the first time. At Shire HGT, our business is to devote our efforts to creating therapies to help
treat rare diseases. As you may know, it has been an extremely busy few months for us at Shire HGT. In
the U.S., there are approximately 7,000 rare diseases and collectively they affect one in 10 people—that
is 25 million Americans. Our focus is to serve these patients, and to be as brave as the people we help.
This has been our mission since 2005, when Shire acquired Transkaryotic Therapies (TKT) and
continued their work in the areas of Hunter syndrome, Fabry disease and Gaucher disease. For years,
we have been working on enzyme replacement therapies (ERT) and other types of treatments for rare
diseases, including lysosomal storage disorders. For many of these diseases, there are no blueprints for
developing treatments. We are building them, along with patients like you, which makes every day
more exciting (and hopeful) than the last.
I remember when Shire was approached by the FDA about bringing forward our developmental ERT
for Type 1 Gaucher disease before commercialization, based on the global supply shortage of the
currently approved treatment for Gaucher disease. Without hesitation we reorganized our plans to help.
My Senior Leadership Team and I sat back and realized that it was going to be quite an undertaking.
However, this is what we do at Shire; we push ourselves to the limits of what is possible. We do this
all for the patients that we serve. And I’m happy to say that we were able to accelerate this therapy’s
manufacturing timeline and the filing in the U.S by almost 18 months.
It has been a long road with hard work from our research, clinical and regulatory teams. We first began
this project several years ago, based on a belief that there is an unmet need for the different segments
within the Gaucher disease patient population. Each day working on this program, there has been a
challenge that our team has met. One of the most difficult parts of the job was waiting for the results
of our three clinical trials. There was so much anticipation –we had done all we could do, and we
just had to wait for science to play its part. It was wonderful when we found out that the data met our
expectations and came back positive and that we are getting closer to achieving our goal of helping the
Gaucher community.
For this reason, we are so pleased with our recent news that the U.S. Food and Drug Administration
(FDA) granted our marketing application Priority Review, which means we can anticipate a decision
from them by February 28, 2010.
I hope that this letter is able to provide you with a snapshot of what we strive to accomplish every day.
It is our hope that out of an unfortunate situation, we are able to build a lasting relationship with the
Gaucher community we are committed to helping.
Sincerely,
Sylvie Grégoire
President
Shire Human Genetic Therapies
5

GoCrossCampus Online Charity Event
Izzy McFalls Gaucher Walk
Christy McFalls held a Gaucher Walk and 5K Run on
September 12, 2009 in Loudon, Tennessee in honor
of her two-year-old daughter Isabella (Izzy) who has
Type 3 Gaucher. The Walk/Run was held at Loudon
Municipal Park and included lots of fun activities
such as a car show, carnival games, live music, a
celebrity judge and door raffle prizes after the run and
walk. The event raised $6,707.26.
We’d like to thank Christy McFalls, the McFalls
family and the sponsors of the event for making it
such a great success:
Gold
Barb McFalls
Silver
Ashley Mason
E. Miller Construction Co.
Sonny Boy Transportation
Bronze
Kate Bowling
Johnny & Vicky Frazier
Norman Jolley
Shaun & Amanda Tomlinson
Isabella
McFalls
GoCrossCampus held an online charity tournament
last spring that raised funds for health related
charities. The National Gaucher Foundation was
chosen because of its excellent rating on Charity
Navigator. The game was a free online team strategy
game, that pits supporters of the involved charities
against each other for control of a map (similar to the
board game RISK). The online event raised $128.50
for Gaucher disease and an $800.00 donation to our
online auction.
Many thanks to the wonderful volunteers who ran
the tournament and played on behalf of the National
Gaucher Foundation.
***Hold a Gaucher Walk in Your Town!***
Our goal is to hold multiple Gaucher Walks across the
US to raise awareness and funds for Gaucher disease.
We need your help to volunteer and hold your own
Gaucher Walk in honor of someone you know with
Gaucher disease.
Start planning now!
Please contact Cyndi Frank at cyndi@gaucherdisease.
org or 877-649-2742 to receive the Gaucher Walk
information booklet with step-by-step instructions
and recommendations on how to hold a successful
Gaucher Walk. We will work with you throughout the
planning process to help you hold a Walk and raise
funds and awareness for Gaucher disease.
The online Gaucher Awareness Auction is coming soon!
Because of the Cerezyme shortage and unexpected crisis in the Gaucher community this summer, we
postponed the online auction until after the New Year. The online auction will still be held, and the dates will
soon be scheduled and posted on the NGF website. Look for these great items and more at below retail pricing:
Jewelry . Wine . Electronics . Travel and Adventure Packages
Tickets to Sports Events . Computer Software . Home Appliances . Spa Packages
Weekend Getaways . Books . Artwork . And more!!!
We are still accepting donations. Please contact Cyndi@gaucherdisease.org or
call 877-649-2742 if you would like to make a donation.
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Neuronopathic Gaucher Disease
Gaucher disease Types 2 and 3
For those of you who are not familiar with these types of
Gaucher disease, they are extremely rare and sometimes
fatal diseases affecting infants and young children with
the painful physical symptoms of Gaucher disease, as
well as severe and progressive neurological decline.
In an effort to help raise awareness and stimulate
funding for research, the NGF will run articles written by
families affected by Gaucher disease Types 2 and 3. The
following articles are the first in a series of articles that
will appear in the Gaucher Community Newsletter each
quarter.
Fighting for Ethan
by Tina and Darren McKown
Ethan James McKown was born at 33 weeks but we
knew right away he was a fighter. During the first eight
months of his life, we were in and out of the hospital
once a month for various issues. Finally in April 2008, at
10 months old, they admitted Ethan for failure to thrive.
Hundreds of tests were done.
May 5, 2008 our lives changed forever. We met with
Ethan’s genetics doctor and learned that he had Gaucher
disease. We had no idea what we were up against. Since
he presented neurological symptoms so early they were
leaning towards Type 2 but hoped for Type 3. While
in the hospital with pneumonia, we found out he had
a homozygous L444P mutation - Type 3 Gaucher
disease and started him on enzyme replacement therapy
immediately.
A breath-holding spell almost took his life so the
doctors scheduled a sleep study. Because Ethan would
stop breathing in his sleep, the doctors suggested a
tracheostomy tube. The risk of our son dying in his sleep
was too high; we had to do it. The tube was inserted the
following day along with a surgery for his Strabismus, a
condition in which the eyes are not properly aligned with
each other.
Our son was laying in the ICU with a breathing tube in
his throat and blood filled tears. It was heart wrenching.
He tried to call out but couldn’t.
In March of 2009, he had a Gastrostomy feeding
tube inserted and a Nissen fundoplication (a surgical
procedure to treat gastroesophageal reflux disease) was
done.
7
Ethan James McKown
In April of 2009, Ethan had more genetic testing. Our worst
fears came true. Ethan was 23 months old and had Type
2 Gaucher disease. We found out that our son would not
live to see his third birthday. We were told that the doctors
would stop his enzyme replacement therapy and asked why
will the doctors not allow us to continue the treatment
Why are they giving up on him
It has been so hard knowing that we won’t ever be able to
hear his laugh again.
Type 1 is not the only Gaucher disease
by Carrie Ostrea, Mom to Hannah 1 1/2 years-old
Although much is known about Gaucher disease Type 1 and
there are treatments, I wanted to share some of the day-to-day
realities we face so that you may have a better understanding
of these two little known types of Gaucher disease; Type 2
and 3.
Our families are being destroyed as it takes our babies
and young children away from us in such a horrific and
devastating way. There is currently no treatment to help
our children and very little funding for research because the
Disease is not well known. We live a life of inevitable feeding
tubes, breathing tubes, chocking spells, seizures, loss of
normal eye movements, and the eventual loss of the smiles of
our children due to the neurodegenerative brain disease from
Gaucher disease Types 2 and 3. As a mother of a child with
Gaucher Type 2 or 3, my hope is to save her life and the lives
of others facing the same journey.
By creating awareness and raising funds for research for a
cure, we hope to save our children. But, we can’t do this
alone. We need your help - to promote awareness, not only
for Gaucher disease Type 1, but for all types. Together, the
Gaucher community is a powerful force and we can help
others who need our united voices. If you are interested in
helping us to raise awareness of Types 2 and 3, please contact
me at ostreafamily@gmail.com.

Aaliyah
Elizabeth
Heinzelman
with her
parents
Tim and
Elizabeth.
Taking a Risk for the Love of a Child
by Elizabeth Luke
Our beautiful daughter, Aaliyah, had Gaucher disease
Type 2. She was beating the odds of Gaucher until last
June, when she became sick with a terrible flu virus paired
with pneumonia and of course, her ever so present and
persistent, Gaucher disease. Up until just a few days prior
to succumbing to her illnesses, Aaliyah was seemingly
healthy and thriving for a child who had Gaucher Type 2.
Our family, including myself, my husband, Tim and our
two sons lost our beloved Aaliyah, June 26, 2008 at only
two years old, just 19 days shy of her third birthday.
When Tim and I used to talk about how many children
we wanted we both had the same idea, we wanted four
children. When Aaliyah was diagnosed at eight months old,
we really rethought our decision to have more children.
That very month of her diagnosis; March, 2006, we put
careful consideration into deciding whether to proceed
with trying for another baby and our son, Jacen, was born
in December, 2006.
I was tested at 10 weeks into my pregnancy and we waited
four weeks for the results. We finally got the call we
had been nervously anticipating and were informed that
although Jacen was a carrier, he did not have Gaucher
disease! We were elated! A huge weight was lifted from
us.
We have recently found out we are expecting twins and
this time it is different, due to the loss of Aaliyah. Once
again, this changed everything for us. Since the twins are
fraternal, they each stand a 25% chance of having Gaucher
Type 2 and a 50% chance of being a carrier. On the other
hand, the way we prefer to see it, is that the odds are for
them. They have a 75% chance of NOT having the disease
and a 50% chance of NOT being carriers.
We have had an amniocentesis performed on both babies
and are currently awaiting the results. Whatever the results,
we will love and care for both our new babies just as we do
our sons, Evert and Jacen, and just as we did and still do,
our beautiful daughter, Aaliyah.
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In memory of the children we have
lost to Gaucher Type 2 & 3
Type 2
Jared Ashley: Florida
Passed away at 19 months
Joseph DeFacci: Illinois.
Passed away at 3 years 26 days (1996)
David Escobar: Mexico
Passed away at 7 months (2007)
Aaliyah Heinzelman: Kentwood, Michigan
Passed away just shy of 3 years (2008)
Kyle: New York
Passed away at two years 1 month (1996)
Josephine Rose Lampitt: Virginia
Passed away at 9 months (Feb 2009)
Joseph Lyle Mueller: Harrisburg, South Dakota
(May, 2009)
Passed away at 6 months and 26 days
Avery Marshall Plumber
Passed away at 20 months (2004)
Ryan Rich: Tennessee
Passed away at 2 years
Type 2 or 3
Gregory Macres: California
Passed away at 4 years old (1997)
Gaucher disease Types 2 and 3 websites
Children’s Gaucher Research Fund
http://www.childrensgaucher.org
Gaucher’s 2/3 Discussion List
http://health.groups.yahoo.com/group/gauchers23
National Gaucher Foundation
http://www.gaucherdisease.org
A Cherished Angel
http://acherishedangel.com
(blog for Kyle)
Little Miss Hannah
http://www.littlemisshannah.com
(information on GD2&3 and blog for Hannah)
If you or a family member has a Gaucher disease Type
2 or 3 blog or website, or child you would like added to
these lists, please email Carrie Ostrea at
ostreafamily@gmail.com.

To our children who are still fighting
for their lives
Type 2
Raechel Rich: Tennessee - Age 17 months
(diagnosed at 6 months).
Addison
Leigh
Bower
Type 3
Tylan Choyfoo: Nevada - Age 4 years
(diagnosed at 18 months)
Alexa Ingalsbe: Kansas - Age 3 (diagnosed at 18 months)
Kyle Ingold: Ontario, Canada - Age 10 months
(diagnosed at 8.5 months)
Mario Mason: Jamaica West Indies - Age 13 years
and 8 months (diagnosed at 5 months)
Connor Miller: Leachville, Arkansas - Age 11
(diagnosed at 15 months)
Jordell Wright: Mason City, Iowa- Age 3
(diagnosed at 18 months).
Type 2 or 3
Addison Bower: Virginia - Age 7 months
(diagnosed at 7 months)
Savannah Hiott: Age 5 years (diagnosed at 1 year)
Hannah Ostrea: The Woodlands, Texas - age 1 1/2 years
old (diagnosed at 5 months)
Some of the ages of the children still reflect their age at the
time this information was submitted to the NGF.
Genetic Disease Online Discussion Group
This discussion group is a means of networking and
communicating for individuals concerned with Gaucher
disease and similar genetically-based diseases.
Physician shares his experience in obtaining
life insurance for daughter with
Gaucher disease
by Robert S. April MD
I am a physician on the scientific advisory board of
the Genetic Disease Foundation in NYC. I have had
the occasion to meet many patients with Gaucher and
other genetic diseases treated successfully with ERT.
Because my 24-year-old daughter has Gaucher
disease and has had an excellent response to ERT,
I was surprised when her husband and she applied
for life insurance and her application was rejected
without review.
My surprise led to inquiry, and I finally was able
to speak directly to the medical director at Met
Life Insurance Company. He was very helpful and
informative. He explained to me that the insurance
business is based on risk analysis which, in turn,
is based on actuarial data about diseases and life
expectancy. He confided to me that his office had
absolutely no recent data on Gaucher disease and
that they relied on information that went back to
the pre-ERT era, a time when Gaucher was a lifethreatening
disease associated with multiple surgeries,
hematological crises, and reduced longevity.
That said, I was able to provide updated information
from the Gaucher Data Bank and after the medical
director’s analysis, Met Life was able to offer life
insurance to my daughter at a slightly increased
premium compared to someone of the same age,
without Gaucher disease. My agents said that they
would be willing to help anyone with a similar need.
This is really wonderful news and very useful to
young patients starting out with families. I hope it
might be shared with others in our position so that
a dialogue could be established for the benefit of all
concerned.”
Robert S. April, MD
RSApri1@aol.com
To subscribe, go to:
http://health.groups.yahoo.com/group/gaucherdisease.
Learn more about the genetic disease email discussion
list at www.gaucherdisease.org. Click on “Gaucher
disease”, then “Support programs.”
9

A short background on Stan Michelman
Stan Michelman was a well-known adoption attorney
who devoted his life to eradicating the devastating
effects of childhood genetic diseases. Through his
private adoption practice, Stan was instrumental in
arranging adoptions for more than 5,000 adoptive
parents. His book, Private Adoption Handbook,
provided guidance for hopeful adoptive parents.
Stan Michelman with Sydney,
one of his granddaughters.
In Tribute to Our Dear
Friend, Stan Michelman
by Rosina Papantonio/NGF
Earlier this year, we lost our dear friend, Stan, but did
not have the opportunity to pay him tribute in the Spring
newsletter.
Rhonda Buyers and I came to know Stan in the course
of our involvement with the Jewish Genetic Disease
Consortium. He was one of those people you liked
instantly—smart, funny, loving, dedicated, a peacemaker
and someone who worked tirelessly for the
benefit of others. He was a hard act to follow.
One Summer morning after Stan had died, I was
walking at the track behind my house and had been
thinking a great deal about what I wanted to say about
Stanley Brent Michelman. My attention was drawn to
the melodic sounds of a lone bird perched atop a nearby
pole. I stopped to admire and listen for a moment, as
he was determined in his desire to be heard. During
those precious moments, my thoughts were of Stan who
persisted in his quest to be heard on behalf of all of the
children who had died and been affected by genetic
diseases. He had lots to say on the subject and was so
passionate that one could only stop and listen to what he
had to say.
After the loss of his grandson Evan to Tay-Sachs
disease, Stan turned his attention to battling childhood
genetic diseases which included all of the genetic
diseases referred to as Jewish genetic diseases. He
founded the Evan Lee Ungerleider Foundation, in
his grandson’s honor, as well as the Genetic Disease
Foundation, affiliated with Mt. Sinai Hospital. He
was Co-President of the National Tay-Sachs & Allied
Diseases Association NY Area Chapter and was
one of the founders of the Jewish Genetic Disease
Consortium.
In Stan’s memory, contributions were made for the
benefit of the Evan Lee Ungerleider Foundation of
NTSAD NY Area to provide funding for projects that
were dear to Stan’s heart. One such project, the Jacob
Sheep Adopt-a-Sheep Project, will help researchers
come closer to a treatment and ultimate cure for
Tay-Sachs disease.
Another is the Grand Rounds Project for Physicians,
which he helped to spearhead and will continue
to enlighten physicians about the need for carrier
screening as prevention for these devastating diseases.
Stan left us with much work to be done and big shoes
to fill. We miss him.
****
Please see a special tribute to Stan written by Marion Yanovsky who is
Co-President of the NTSAD, NY Area (page 25).
The following, though informative, can never measure
up to the Stan we all knew and loved, but it is an
impressive representation.
10

The intense part of her marathon training began in
early July of this year, running four days a week
and cross-training another day. She was religious
about beating the summer heat so she was
pounding the pavement before the sun appeared
in the eastern sky each scheduled running day.
Needless to say there were a lot of bagels and
bananas consumed in our house, not to mention
pasta. Carbs, carbs, carbs!!
Shauna Mangum
running the 2009
Chicago Marathon. and
posing for pictures.
My Overachieving Wife Amazes Me
Submitted by Wayne Mangum
After years of excessive bleeding, a swollen
abdomen, fatigue and bone pain in her thighs
and hips, Shauna was diagnosed with Type III
Gaucher in June of 1995 at the Mayo Clinic
in Scottsdale, AZ. Mind you, it took almost
five years to diagnose what was causing all of
the above. That’s a lot of biopsies and blood
work. If you’re reading this you’re well aware
of the roller coaster ride involved in a Gaucher
diagnosis. In 1999, after a victorious battle
versus our insurance company, she finally started
receiving infusions of Cerezyme.
Okay, back to the over achieving stuff. Shauna
is working on her Bachelor’s Degree in Nursing
from Eastern New Mexico University, she’s
a gourmet cook, leads a bible study once a
week, a mom of four children ranging in age
from 15 to five, and wife of me (well maybe
five kids.) In her spare time she ran the 2009
Chicago Marathon, 26.2 miles, without, the aid
of Cerezeyme due to the shortage that sprang up
this summer. Her last shipment of the drug was
early August.
11
The mileage she ran was as little as 19 miles a
week in June and climbed to as much as 40 miles
in late September. Finally, two weeks before
the marathon, the training schedule lessened in
mileage, on the mileage allowing the body to
recover from the abuse of training. It was great
for me because the fewer miles she ran meant that
she was able to get back from her run and have the
coffee ready by the time I rolled out of bed!
Three hundred fifty miles, four pairs of shoes and
numerous purchases of blister prevention devices
later, race day arrived. October 11, 2009 holds a
special place for nearly 35,000 people. That is the
number of runners that braved the near record low
temperatures that set off to prove they had what it
took to never quit in the face of adversity.
Well, I’m thrilled to tell you, my wife is not a
quitter, although at about mile 17 she was feeling
the effects of the Cerezyme shortage and a case of
the flu she picked up three days prior to the race.
She crossed the finish line with a time of 5:08. I
am so proud of her. All things are possible with
a dose of determination and a lot of faith. She
proves it over and over.
Shauna really is, the best there is.
Notice to Gaucher Treatment Locations
Patient Meetings
If your treatment center would like to have a
patient meeting, please contact us at
ngf@gaucherdisease.org or 800-504-3189.

NGF 2009 Updates
Developing relationships: To improve
communication between the NGF, patients, the
medical community and the pharmaceutical
industry, the NGF has been developing
relationships and collaborating with all of the
pharmaceutical companies who have treatments,
treatment protocols and trials for Gaucher disease.
This has resulted in a better understanding of each
other’s business and how we relate to one another
in this rapidly changing environment.
Events: Although many planned events were
put on hold this year, in 2010, the NGF plans to
resume it’s efforts to raise awareness of Gaucher
disease
Gaucher Types 2 and 3: This year, the NGF
took on the challenge of assisting families with
Gaucher Types 2 and 3 and has been working
with parents, the medical community and other
organizations to help promote research, education
and awareness. However, in order to address the
issues surrounding the drug shortage, the NGF has
had to put its collaboration with these groups on
hold. In 2010 we will resume these efforts.
Legislative Issues: The NGF continues to work
with the health care industry and legislative body
on issues that will benefit those with Gaucher
disease and other rare diseases, as well.
Our current projects are H.R. 5748/Ryan Dant
Heathcare Opportunity Act of 2008 and the Health
Insurance Coverage Protection Act. Although
each piece of legislation now has hundreds of
amendments tacked to it, we hope these bills will
be passed.
Patient Meetings: The NGF has had many faceto-face
patient meetings throughout the U.S., in
addition to WebEx meetings.
Website: www.gaucherdisease.org went through
many changes this year in order to accommodate
the needs of the Gaucher community. As a result
of the Cerezyme drug shortage and the new
treatment protocols, individualized Web pages
were built for each pharmaceutical company to
accommodate their individual information related
to treatment, treatment locations, correspondence,
Town Hall meetings, etc.
The NGF utilizes these separate web pages
to separately house the massive amounts of
information to be posted for each pharmaceutical.
Further it enables the NGF to post information that
these companies may not be able to post. All of
this information can be found under “Treatments/
Pharmas.”
MARK YOUR CALENDAR
Gaucher Conference
November 7 and 8, 2010
Atlanta, GA
Check the NGF website at
www.gaucherdisease.org
for details.
12
The National Gaucher Foundation will
post details at the website and on
the genetic disease list serve as they
become available.

NGF STATEMENT OF PUBLIC SUPPORT
REVENUES AND EXPENSES
FOR THE YEAR ENDED MAY 31, 2009
SUPPORT AND REVENUE:
Support $2,793,596
Revenue $ 70,720
TOTAL SUPPORT AND REVENUE $2,864,316
EXPENSES:
Program Services $2,548,287
General and Administrative $ 144,521
Fund-raising $ 119,542
TOTAL EXPENSES $2,812,350
EXCESS/DEFICIT OF SUPPORT
AND REVENUE OVER EXPENSES $ 51,966
FUND BALANCES—
BEGINNING OF YEAR $ 372,762
FUND BALANCES—
END OF YEAR $ 424,728
13

IN HONOR OF
• Larry Abate's 65th Birthday from Dr. & Mrs. Herbert Schulefand
• Percy Abelkop's birthday from Mary Schechter
• Adelman Family B'nai Mitzvah from Mr. & Mrs. Mark Klar
• Hailee Nicole Anzisi’s Graduation from Mrs. Adele Lenggenhager
• Mr. and Mrs. David Aresty for hosting a wedding party for Rachel Denbo and Marc Labovitz
from Mr. & Mrs. Joel Denbo
• Mr. and Mrs. Foster Bailey for hosting a wedding party for Rachel Denbo and Marc Labovitz
from Mr. & Mrs. Joel Denbo
• Moshe Ben-Barouchz'l from Mr. & Mrs. Ilan Koren
• Rebecca Bathke from Mrs. Michael Gordon
• Gary Beller from Chuck & Diane Kaufman
• Evelyn Berman's 85th birthday from Adam Hordell
• Elizabeth Betts from Jean Williams
• Benjamin Birkhahn from Avenue Solutions LLC/Tracy Spicer, Tracy Birkhahn
• Joan Bortnicker's retirement from Mr. & Mrs. Mike Bortnicker
• Addison Bower Walk from Mr. and Mrs. Michael Strickler, Ms. Shawn Lipinski, Mr. Trent Bower,
Denise Brooks, Ms. Emily Umberger, Mary Kay Sisters, Beverage Tractor & Equipment,
Ms. April Cranford, Mr. and Mrs. Ronald Gilbert, Ms. Rose Maranga,
Rev. Jason Whitener: Tinkling Spring Church, Ms. Michelle Cook, Mr. and Mrs. Michael Winfield,
Ms. Teresa Miller, Ms. Amy Thorne, Mr. Brandon Harris, Mr. John Slechta, Ms. Teresa Carpenter,
Ms. Jamie Smith, Mr. and Mrs. Douglas Layman, Ms. Janette Gordon, Mr. and Mrs. Peter Pedersen,
Mr. and Mrs. Charles Schultz, Eavers Citgo, Mr. and Mrs. Walter Farrell, Mr. and Mrs. Fred Laspina,
Mr. and Mrs. Andrew Gordon, Mr. and Mrs. James Butler, Mr. and Mrs. David Wolfe,
Mr. and Mrs. Greg Mayo, Ms. Terin Garrett, Mr. and Mrs. Phillip Grasty, Mr. Philip Balsley,
Mr. Darrell Byrd, Ms. Sandra Martin, Ms. Lisa Long, Ms. Terrie Wood, H. Gordon,
Mr. and Mrs. Shaun Wetzel, Mr. and Mrs. Marvin Thorne, Mr. and Mrs. Kenneth Gibson,
Mr. and Mrs. Tommy Frazier
• Elisa Brito & Family from Cristin Bolsinger
• Nava Brito from Maria Davalos, Brian Isaacs, Laura McCane
• Chloe Broser from Eric & Jenny Newman
• Shelia and Arnold Broser’s 50th wedding anniversary from Mr. and Mrs. Joe Slotnick,
Mr. and Mrs. Ronald Lassin, Mr. Leonard Mactas
• Christopher Peter Burner from Christopher Burner
• Joan Cairncross from Susan Randerson
• Mr. and Mrs. Chuck Browning for hosting a wedding party for Rachel Denbo and Marc Labovitz
from Mr. & Mrs. Joel Denbo
• Alvin Canter’s Birthday from Mr. & Mrs. Richard Radford
• Betty & Al Canter’s anniversary from Mr. & Mrs. Richard Radford
• Sol Captain’s birthday from Mr. & Mrs. Richard Radford
• Christina Chaffrey from the United Way of Central New Mexico
• Blake & Kyle Champagne from Lenore Trimmel
• Henry Clayton’s Bar Mitzvah from Mr. & Mrs. Mark Klar
• Florence Cohen from Marsha Cohen
• Jeff Cohen for his kindness from Amy Schwartz
• Stephanie Cohen from Anonymous
• Congregation Beth Or’s Sisterhood Woman of the Year from Elsa-Lu and Arnold Berkowitz
14

IN HONOR OF
• Luvenia Corbin for Gaucher research from Alan & Louise Hallam
• Justin Covensky's 18th birthday and high school graduation from Mr. & Mrs. Mark Klar
• Renee Angle & Solomon Bryan Davis wedding from Jim Burns, Cybele Knowles,
Tina, Michael, Daniel, Rebecca & Alyssa Novick, Whitney Ryser, Carrie Weaver, Josh Protas,
Keith Dveirin, Megan Coe, Mona Elleithee, Gail Wallen, Ms. Sharon Glassberg, Julia Johnson,
Wendy Burk, Mary Ellen, Tina Novick, Gail Browne, Beverly Dudley, Lynn Friedlander,
Laynie Browne, Robert Novick
• Mr. and Mrs. Norman Davis for hosting a wedding party for Rachel Denbo and Marc Labovitz
from Mr. & Mrs. Joel Denbo
• Felino Deleste's 50th birthday from Stacy Deleste
• Ann and Morely Denbo's anniversary from Mr. & Mrs. Joel Denbo
• Mr. and Mr. Don Denbo for hosting a wedding party for Rachel Denbo and Marc Labovitz
from Mr. & Mrs. Joel Denbo
• Mr. and Mrs. Morely Denbo for hosting a wedding party for Rachel Denbo and Marc Labovitz
from Mr. & Mrs. Joel Denbo
• Joel Denbo’s Father's Day from the Joel Denbo Family
• Dr. and Mrs. Donald Dreyfuss' granddaughter Brooke from Mr. & Mrs. Mark Klar
• Jonathan Edzant from Mr. & Mrs. Bob Edzant
• Madeleine Fagan from Livi Vaught
• Mr. and Mrs. Howard Feinstein and children from Ms. Irene Feinstein
• Mort and Millie Feldman’s 50th wedding anniversary from Mr. & Mrs. Mark Klar
• Nancy Feldschuh from Harold & Sylvia Nissen
• A new grandson from Harriette Fershtman
• Bud Finger from Dorothy Slone
• Carol Fink from Stephen & Giselle Cornet, Gerald Forquell
• Rose-Lynn Fisher from Eleanor Fisher
• Andrew Fogel from Mr. & Mrs. Alex Finkel
• The Fogel/Kmiec family from Stanford & Eileen Glanzberg
• Cyndi Frank from Josh & Ilaina Davidson, Henry Richman
• Kathy Friedland from Laura McKay
• Mr. and Mrs. Kenneth Genender’s 40th wedding anniversary from Dr. and Mrs. Joseph Bolotin
• Emily Caslow Gendi from Robert & Charlotte Caslow
• Eileen Glanzberg from Stanford Glanzberg
• Harriet Glassman from Elsa-Lu and Arnold Berkowitz
• Dr. Hershel Glatt from Anonymous
• Sarah Goldsmith’s retirement from her former co-workers
• Ed Goldstein from Mr. & Mrs. Art Goldstein
• Erin & Marlon Goldstein’s 7th wedding anniversary from Arthur & Irene Schatz
• Jake Goodman from Robert & Frances Matonte, David & Birdie Kadish
• Ellen Gordon’s 50th birthday from David & Birdie Kadish
• Tillie Gordon’s birthday from Mr. & Mrs. Richard Radford
• Lance & Cindy Gottlieb for a happy, healthy Chanukah from Jean Malkin
• Olivia Grant from Mr. and Mrs. Barry Friedland
• Dr. Gregory Grabowski from Mr. & Mrs. Melton Horwitz
• Jacob and Lindsay Greenwald from Mr. and Mrs. Keith Greenwald
• Leo E. Grubb from Hazel Grubb
• Emma Grunstein from Mr. & Mrs. Michael Grunstein
15

IN HONOR OF
• Carole Helford's birthday from Mr. & Mrs. Richard Radford
• Mr. and Mrs. Neal Hudson for hosting a wedding party for Rachel Denbo and Marc Labovitz
from Mr. and Mrs. Joel Denbo
• Mr. and Mrs. Albert Labovitz for hosting a wedding party for Rachel Denbo and Marc Labovitz
from Mr. & Mrs. Joel Denbo
• Brady Jackson from Tracey DuBois, Judith Smart, Ms. Donna Clark
• Birdie Kadish from James & Judith Klein
• Jennifer Jackson for Hosting a wedding party for Rachel Denbo and Marc Labovitz
from Mr. and Mrs. Joel Denbo
• Bunny and Clara Kalinder from Mr. & Mrs. Ed Berger
• Lis Kalogris’s garden tour from Mr. & Mrs. Stanford Glanzberg
• Morris Katz's 80th birthday from Mr. & Mrs. Stanford Glanzberg
• Charles & Diane Kaufman from Daran & Elaine Rubin
• Chuck and Diane Kaufman's 50th wedding anniversary from Monroe Mitchel, Ms. Lisa Zorfas,
Mr. & Mrs. Sam Brenner, Mr. & Mrs. Allan Greenblatt, Mr. and Mrs. Lewis Miller
• Clark Kerner from Helyn Agee
• Mr. and Mrs. Harry Kirkland for hosting a wedding party for Rachel Denbo and Marc Labovitz
from Mr. & Mrs. Joel Denbo
• Michael Klar from Adam Grodman, Mrs. Shirley Klar
• Kenneth Kline’s Father's Day from Mr. and Mrs. J. Klein
• Sanford & Melva Klein from Julie Woodard
• Alan and Phyllis Kohn’s Golden Anniversary from Mr. and Mrs. Leonard Stieglitz
• Danna Koren’s graduation from Mr. & Mrs. Ilan Koren
• Carole Kushnir from Marcia Cooper & Jeffrey Rosenberg
• Carole & Alan Kushnir from Morton & Claire Rothberg
• Andrea Kutenplon's birthday from Sherri Israel
• Ed and Val Laser’s 50th wedding anniversary from Mary Schechter
• Sarah Levin's 7th birthday from Ms. Stephanie Levin
• Sidney Levin from Mr. Irving Levin
• Mr. and Mrs. Ted Lipman for hosting a wedding party for Rachel Denbo and Marc Labovits
from Mr. and Mrs. Joel Denbo
• Mrs. Harry Labovitz for hosting a wedding party for Rachel Denbo and Marc Labovitz
from Mr. & Mrs. Joel Denbo
• Mr. and Mrs. Neal Labovitz for hosting a wedding party for Rachel Denbo and Marc Labovitz
from Mr. & Mrs. Joel Denbo
• Florence and Sy Lewis from Anonymous
• Eric Litman's Bar Mitzva from Mr. & Mrs. Mark Klar
• Ken Lipkowitz’s retirement from Margaret Mayer, Evan Lipsitz, Mark & Bonnie Kowalsky
• Mr. and Mrs. Larry Liplam for hosting a wedding party for Rachel Denbo and Marc Labovitz
from Mr. & Mrs. Joel Denbo
• Jenna & David Lonstein from Michelle Weisman
• Maynard Louis' 80th birthday from Mr. and Mrs. Jim Kline
• Sherman Lublin from Annette Cohen
• Jean Malkin's 81st birthday from Susan Dolin
16

IN HONOR OF
• Izzy McFalls Walk from Bobby and Christi McFalls, Barb and Bobby McFalls,
Mr. Larry Spiva, People Places, Inc., Ms. Jody Shaw, Mr. and Mrs. ShaunTomlinson,
Mr. Tim Williams. Mr. Johnny Deakins, Mr. and Mrs. Eddie Raines, Ms. Lisa Silver,
Ms. Kate Edmondson, Mr. Mark Watts, Mr. and Mrs. Janice Lumley, Mr. and Mrs. David Garrison,
Ms. Ashley Bivins, Mr. Samuel M. Mason, Mr. and Mrs. Matthew Wilks, Mr. Norman Jolley,
Sonny Boy Transportation, Mr. and Mrs. Paul Siecinski, Ms. Dana Lawson, Mr. and Mrs. Jeff Cox,
E. Miller Construction Co., Mr. and Mrs. Johnny Frazier, Ms. Sharon Jolley, Ms. Betty Newhouse,
Mr. and Mrs. Clyde Jolley, Mr. Danny Williams, Mr. and Mrs. Marcus Chambers, Ms. Teresa Arthur,
Mr. and Mrs. William Russell, Mr. and Mrs. James Harrison, Mr. Sidney Tibbs, Mr. and
Mrs. Douglas Foster, Mr. and Mrs. Eddie Estes, Mr. and Mrs. John Trump, Mr. Thomas Wright,
Ms. Ashley Mason, Mr. Tim Koch, Ms. Cindy Ownbey
• Arlene McGauran’s birthday from Lois Frank, Sean Casey, Eliana & Greg Frank,
and Cyndi Frank & Lars Asbjornsen
• Dawn Marsalis from Ross Clark
• Adam McCollom from Wayne Rosenfield
• McKieran wedding from Mr. & Mrs. Sanford Klein•
• Bernice Meisel's birthday from Mr. & Mrs. Richard Radford
• Jesse Michmerhuizen from the Grand Haven Area Community Foundation
• Mr. & Mrs. I.B. Miller’s 62nd wedding anniversary from Joel & Sara Denbo
• I.B. Miller's birthday and Father's Day from Mr. & Mrs. Joel Denbo
• Mr. and Mrs. I. B. Miller for hosting a wedding party for Rachel Denbo and Marc Labovitz from
Mr. & Mrs. Joel Denbo
• Mr. and Mrs. Sol Miller for hosting a wedding party for Rachel Denbo and Marc Labovitz
from Mr. & Mrs. Joel Denbo
• Courtney C. Mills from Courtney & Patricia Craft
• Phillip Morrin from Shel Beban
• Danielle’s 7th birthday from Donna Nathan
• The National Gaucher Foundation from Chuck & Diane Kaufman
• Naturopath from Mr. & Mrs. David Okada
• Evelyn Neuhaus from Jonathan Cohn, Alan Levy, Peter & Beth Morrow, Tammy Neuhaus,
Eric Radany, Pamela Shore, Daniel Steinmetz, Allison Stupka
• Evelyn Neuhaus' birthday from Elizabeth Morgan, Thomas Gladwin
• Jaron Nielsen from Linda Edwards, Morgan & Melanie Nielsen
• Rosina Papantonio from Barbara Greenleaf
• Kasey Joe Powell from Mr. & Mrs. Joe Powell
• Jon Rendelman’s 70th birthday from Shelley Collins, Melvin & Sharan Kushner,
Eric & Joanna Lewis, Louis & Jill Naviasky
• Jessica & Eric Resnick from Allen & Anita Resnick
• Mathew Rinaldi from Susan Lindahl
17

IN HONOR OF
• Mathew Rinaldi--Kinser/Rinaldi Ironman Competition from Ms. Cynthia Frank, Mr. Lars-Erik Asbjornsen,
Mr. & Mrs. Steve Rinaldi, Mr. & Mrs. David Sauer, Mr. & Mrs. Charles Kinser, Mr. and
Mrs. Robert Kinser, Ms. Mary Rafferty, Mr. Al Rinaldi, Mr. George Kinser, Mr. & Mrs. Koss Kinser,
Mr. Thomas Kinser, Mr. & Mrs. Thomas Miller, Mr. and Mrs. Donald Carpenter,
Mr. & Mrs. Ronald Rahorn, Mr. & Mrs. Larry Kinser, Mr. and Mrs. Richard Kinser,
Mr. & Mrs. James Curtis, Mr. & Mrs. Dominic Rinaldi, Mr. Andrew Kroymann, Mr. and
Mrs. Thomas Rose, Ms. Sandra Pate, Ms. Jane Nachtman, Mr. and Mrs. Anthony Chiodini,
Mr. and Mrs. Bill Kirk, Pizza Ranch-Roscoe, Mr. and Mrs. John Kinser, Mr. Kristopher Kinser,
Ms. Elizabeth Lindahl, Mr. James Kinser, Mr. and Mrs. Bruce Gordon, Mr. C. Kinser, Ms. Molly Peterson,
Mr. and Mrs. Mike Clark, Ms. Sandra Fink, Ms. Vicki Rinaldi, Mr. and Mrs. Jon Rinaldi,
Ms. Sandra Lathrop, Ms. Bette Thornburg, Ms. Ann Overton, Mr. Joseph Reister, Mr. Justin Kinser,
Ms. Jill Caldwell, Ms. Tamee Browning, Mr. Lowell Larson, Mr. Jeremy Carpenter
• Robert & Jennifer Roback’s wedding from Steven & Susie Schneiderman
• Linda Rubenstein from Anonymous, Mr. & Mrs. Pliny Jewell
• Mathew Rubin from Robert Mann
• Cathie Salamone from James & Lisa Radcliffe
• Mary Schechter from Dick & Beverly Fink, Jennifer Stern
• Mr. and Mrs. Jeff Redisch for hosting a wedding party for Rachel Denbo and Marc Labovitz
from Mr. & Mrs. Joel Denbo
• Madelyn Rendelman Schloss from Sherryl Amoyal, Marie Gussio, Keith & Kim Steller,
Laurel Zemil, David & Nadine Hazman
• Mr. and Mrs. Jay Rogal's 50th wedding anniversary from Mr. & Mrs. Robert Gaynes
and anonymous
• Anthony Rossi from Anonymous
• The Salamone Family from Mr. & Mrs. James Radcliffe
• Jenny Schloss for Mother’s Day from Gina Millstein
• Barbara Schubiner from Steven & Elizabeth Schubiner
• Jamie Seaver from Michael & Valerie Seaver
• Baby Ezra Shere from Michael & Nori Klar
• Mr. and Mrs. Bill Shinn for hosting a wedding party for Rachel Denbo and Marc Labovitz
from Mr. & Mrs. Joel Denbo
• Chris Sorrentino from Ms. Shelley Beban
• Melissa Steinman from Thomas Landau
• Harold & Susan Streem for a happy, healthy Chanukah from Jean Malkin
• Dr. Rick Sukov’s 65th Birthday from Ms. Rona Kaufman
• Isha Tohill from Leo Tohill & Irene Komor
• Roberta Randall & Ken Towers marriage from Alan & Carole Kushnir
• Kevin Thomas from Ms. Pamela Filkins
• Ann Trauth from Cathleen Finley
• Emil Trombino from Douglas & Wendy Friedrich
• Dominick & Julia Trombino from Nina Harlan, Vincent & Kathryn Scotton,
Robert & Andrea Trombino
• Marilyn F. Vanvick from Mr. William Page
• Michaela Wagner from Loretta Falk
• Edward Wagner from Michael Goldfine
• Brian & Alison Waldman from Jan & Sue Guben
• Gregg Warren’s 45th birthday from Muriel Warren
18

IN HONOR OF
• Mr. and Mrs. Larry Weaver for hosting a wedding party for Rachel Denbo and Marc Labovitz
from Mr. & Mrs. Joel Denbo
• Sara Weinfeld’s Bat Mitzvah from Mr. & Mrs. Mark Klar
• Bill Weinlood's birthday from Mr. & Mrs. Richard Radford
• Marv & Elaine Weiss for a happy, healthy Chanukah from Jean Malkin
• Mike Weissman's 75th birthday from Ms. Judy Dragin, Mr. Howard Kline, Mr. & Mrs. George Aronoff
• Jonathan Wilmore from Larry Simeral
• The naming of baby Hailey Bart Winston from Stanley & Carol Alpert, Ilene Asner,
Jack & Gail Baylin, Keith & Lisa Carswell, Joel & Harriet Charkatz, Ross & Heather Charkatz, Michael
& Shelley David, Marv & Sandy Glass, Gary & Bonnie Greenwald, Robert & Nancy Greenwald, Susan
Imber, John & Rose Kenzora, Lawrence & Margot Lessans, Adam Levitt, Ron & Sherry Luria, Jeffrey
Maass, Tali Raphaely, Jordan Resnick, Danny & Robyn Riter, Phil Schleider & Rita Valpak, Jenny & Adam
Schloss, William & Shirley Sutton, Annette Winn, Bruce & Sharon Winston
• Adam Wolf from Mr. & Mrs. Jeffrey Wolf
• Helen Wrubel’s 100th birthday from Chuck & Diane Kaufman
• Benjamin Young's birth from Mr. & Mrs. Mark Klar
• Arianna Zallik from Marc & Roslyn Lessem, Jacqueline Sabath
IN MEMORY OF
• Carolina Alhanati from Robbin Cooper
• Patricia Baber from Richard & Norma Beard
• Moseh Ben-Barouch from Mr. & Mrs. Ilan Koren
• Janet Bender from David & Barbara Bender, Lipton Foundation/Robert & Barbara Agar
• Celeste Benrend from Harriet Greenberg
• Sandy Berman from Mr. & Mrs. Kit Woolsey
• Abigail Dianne Berweiler from Paul & Lana Berweiler
• Marion Black from Richard & Betsy Haubrich, Ted & Susan Klastorin, Lisa Perlmutter
• Gilmer Blackburn from Mr. & Mrs. Joel Denbo
• Gary Blum from Ms. Lynne Fisher, Mr. Joshua Friedman, Ms. Jessica Resnick
• Rita Boudouris from Gregg & Eileen Warren
• Betty Brown from Anonymous
• William Buckingham from Lee & Martha Beninghove
• Rita M. Champagne from Mr. & Mrs. Paul Busfield, Mr. & Mrs. Andrew Trainer,
Mrs. Lenore Trimmel, Ms. Pamela Jordan, Ms. Karen Jordan, Ms. Mary Duncan,
Perkiomen Service Building, Ms. Trish Branagh,
Ms. Faith Butt, Ms. Theresa Smith, Mr. and Mrs. Victor Puia, Ms. Phyllis Fleming,
Mr. and Mrs. Dennis Hydrick, Mr. Reuben Champagne
• Ronald Christians from Laurence & Sharon Spiwak
• Joseph Cirkus from Jeffrey & Marcia Wolf
• Herbert Clofine from Robert & Carole Braunfeld, Eileen & Stanford Glanzberg
• Les Cohn & Harry Bassin from Morris & Eva Tulchinsky
• Joel Coltoff from Elsa-Lu and Arnold Berkowitz
• John Cook from Joel & Sara Denbo
• Randy Cooper from Robbin Cooper
19

IN MEMORY OF
• The Mother of Sheila Davis from Elsa-Lu and Arnold Berkowitz and Shirley and Harold Goldberg
• Ann Diamond from Alan & Trudy Marmorek
• Baby Doran from Donald Kershaw
• Florence Dorman from Ms. Pamela Rothstein
• Beverly White Dunn from Mr. & Mrs. Joel Denbo
• Rosalie Finkel from Sid & Sandy Gritz, Rick & Marcia Kanner
• Sandra First from Mr. & Mrs. Mark Klar, Mr. & Mrs. Joel Greenberg
• Nelson G. Freed from Debbie Freed
• Joseph Gallo from Mr. & Mrs. Robert Braunfeld, Mr. & Mrs. Ron Stoll
• Linda Gerson from Elsa-Lu and Arnold Berkowitz
• Sheldon Gilbert from Mr. & Mrs. Mark Klar
• Fredye Glass from Mr. and Mrs. Jeffrey Wolf
• Rosalie Goode Fried from Paul Fried
• Fred Goodman from Mr. Peter Steiner
• Steven Goodman from Mrs. Cynthia Goodman
• Michael Goodman from Mr. & Mrs. Mark Klar
• Bea Goldberg from Robert & Marjorie Williams
• Harry, Anne & Stanley Goldstein from Ms. Delphine Goldstein
• Dorothy Green from Marc and Nori Klar
• Kenneth Greenberg from Ms. Debbie Goldberg
• Sam Greenstein from Morris & Eva Tulchinsky
• Ronald Grubb from Ms. Hazel Grubb
• Jennifer Gruenberg from Ms. Heather Gruenberg
• Louise Fisher from Elsa-Lu and Arnold Berkowitz
• Francine Hallam from Alan & Louise Hallam
• Leonard Halpern from Elsa-Lu and Arnold Berkowitz
• Franceen Hart from Muriel Warren
• Judith Hazan from Jack Hazan
• Elaine Herman from The NGF Delaware Valley Chapter
• Mrs. Herr from Mr. & Mrs. Robert Braunfeld
• Fela Igielnik from Morris & Eva Tulchinsky
• Irving Immerman from Jeffrey & Marcia Wolf
• Rochlle Israel from Mrs. Adele Lenggenhager
• Pamela Jaffey’s mother from Robert and Carole Braunfeld
• Leo Jagendorf from Norma Jagendorf
• Dr. Perry Kaliner from Adam Kaliner
• Julie Katz’s Father from Shirley and Harold Goldbert
• Harold Katzman from Joel Epstein
• Greg Klein from James & Judith Klein
• Jody, beloved daughter, from James & Judith Klein
20

IN MEMORY OF
• Herbert Kaufman from Mr. & Mrs. Stanford Glanzberg, Mr. & Mrs. Marvin Rubenstein,
Mr. Leon Rosenfeldt, Mr. & Mrs. Stanley Richmond, Ms. Barbara Gross, Ms. Molly Richmond, Mr. and
Mrs. Lewis Rosenblatt, Mr. and Mrs. Edward Kravitz, Mr. James Orman, Mr. and Mrs. Ron Sandberg,
Mr. and Mrs. Andrew Smukler, Ms. Ellen Young, Ms. Gloria Dunoff, Ms. Claire Gantz, Mr. and Mrs.
Doris Feldman, Mr. and Mrs. Jerome Santoro, Mr. and Mrs. Stephen Bleyer, Ms. Gertrude Graef, Mr.
Robert Vonsick, Dr. and Mrs. Donald Corey, Ms. Irene Valoris, Mr. Michael Valoris, Ms. Christina
Logiudice, Ms. Nicoletta Corvino, Mr. and Mrs. David Sherman, Ms. Susan Rubin, Mr. and Mrs. Leonard
Kramen, Ms. Sally Servetnick, Mr. and Mrs. Allen Myers, Mr. and Mrs. William Krone, Mr. and Mrs.
Sebastian Micciulla, Ms. Gloria Barnett, Mr. and Mrs. Lawrence C. Rappaport, Ms. Janet Epstein, Mr.
Paul Weisbord, Mr. and Mrs. Irving Finkelman, Mr. and Mrs. Joseph Smukler, Mr. and Mrs. Robert Dell'
Arciprete, Elsa-Lu and Arnold Berkowitz, Delaware Valley Chaper NGF, Lois and Larry Kaliner,
Shirley and Harold Goldberg
• Donald Kline from Shuster Design Team, Ms. Gail Norman, Ms. Audra Fine, Ms. Jill Epstein,
Mr. and Mrs. Gerald Lewin, Ms. Natalie Pelavin, Mr. and Mrs. Peter Weiss, Ms. Susan Zeff,
Mr. and Mrs. Robert Malina, Mr. and Mrs. Jordan Bier, Ms. Francine Cooper, Ms. Renee Burke,
Mr. and Mrs. Rick Adelson, Nowell Amoroso, Klein, Bierman, PA,
Mr. and Mrs. Sol Wolfson, Flaherty & Collins Construction, Taylor & Taylor, Mr. Douglas Schwarz,
Mr. Louis Shuster, Mr. and Mrs. Stanley Ginsberg, KeyBank National Association,
Mr. and Mrs. Maxwell Stolzberg, Mr. and Mrs. Irv Blitz
• Jack and Betty Kroker from Mr. & Mrs. Mark Klar, Ms. Muriel Warren
• Sylvia Leitner from Ms. Allison Dyslin, Rabbi and Mrs. Marc Berkson, Mr. Michael Blechman,
Ms. Kellie Dyslin, Ms. Carol Letofsky, Ms. Elaine Newman,
Shefsky & Froelich Charitable Foundation, Mr. and Mrs. Irving Gordon
• Ida Liss from Mike & Florence Bortnicker
• Jakob Kuba" Liwazer" from Mr. & Mrs. Mark Klar
• Evelyn Marker from Mr. & Mrs. Irving Goozman
• Priscilla Maron from Karl & Nan Norris
• Shirley Matkoff from Harriet Greenberg
• Adam McCollom from Wayne Rosenfield
• Ethan McKown from Mr. & Mrs. Felino Deleste, Mrs. Talya Raveed, Ms. Dawn Marsalis
• Roz Meketon from Elsa-Lu and Arnold Berkowitz
• Glenn Miller, Jr. from Ms. Nancy Westfall
• Roz Miller from Chuck & Diane Kaufman
• Anne Meyer from Children’s Service League, Mrs. Faith Saunders
• Cindy Ann Mudryk from Mr. & Mrs. Mark Klar
• Joey Newhouse from Anonymous (2)
• Henry Orkin from Loretta Falk
• “Me Me” Pepe from Elsa-Lu and Arnold Berkowitz
• Eugene Penfil from Elaine and Alan Shils
• Floyd Pinson from Dance A-Weigh, Heather Hare Hodson, Ms. Claudia Camp, Ms. Patricia Pryor
• Mary Pinz from Ms. Sylvia Belkin
• Dr. Prakashchen from Anonymous
• Jeffrey Pratt from Janet Pratt
• Helen & Philip Reich from Gregory & Camille Reich
• Arnie Roberts from Mr. & Mrs. Stanford Glanzberg
• Bert Robinson from James Robinson
21

IN MEMORY OF
• Anne Roseman from Chuck & Diane Kaufman
• George Rosenfield from Wayne Rosenfield
• Milton Rubin from Mr. & Mrs. James Klein
• Ben Sacco from Mr. & Mrs. Joel Denbo
• Norbert Salpeter from Mr. & Mrs. Sanford Klein
• Leon Sanders from Timothy Coleman, Geoff Hader, Jillian Neubauer, Vicki Shook, Denise Sward
• Sarah from Flip and Mike Bortnicker
• Helen Schwartz from Dr. and Mrs. Joseph Bolotin
• Richard Seidman from Mr. & Mrs. Stanford Glanzberg
• Eloise Seidner from Mr. & Mrs. Harvey Silvers
• Linda Dale Shaforman from Mr. & Mrs. John Huennekens
• Shawne's mother from Mike & Claudia Goodman
• Shirley Shelman from Robert & Carole Braunfeld, Stanford & Eileen Glanzberg
• Elsie Sheiman from Joan Kaufman
• Larry Shouse from Barbara Kerner
• Frank Singerman from Mr. & Mrs. Roger Berman
• Ned Steinfeld from Mr. & Mrs. Stanford Glanzberg
• Sylvia Straatsma from Mr. & Mrs. David Gervich
• Larry Stoller from Anonymous
• Leroy Tabb from Elsa-Lu Berkowitz
• Linda Tulchinsky Siegel from Morris & Eva Tulchinsky Fannie Cohen, Linda T. Siegel
• Adam J. Siegel from Morris & Eva Tulchinsky
• Richard Unterberger from Alan & Louise Hallam
• Waldron/Reynolds Family from Mr. & Mrs. Charles Waldron
• Sandy Weinstein from Bernard & Susan Evenchik
• Michael Weitzman from Gregg & Eileen Warren
• Michael Winner from Mr. & Mrs. Spencer Schwartz
• Ron Wolpa from Carol Gifford and Connie O’Conner
• Burt Yudin from Muriel Carter
Are you looking for a doctor who treats Gaucher disease,
or a treatment location near you Look no further.
There are several options to help you find a doctor qualified to treat Gaucher disease and a treatment location.
1) Go to the NGF website at www.gaucherdisease.org and click on “Treatments/Pharmas.” Under each
pharmaceutical company is a list of locations that provide that company’s treatment. The lists are updated on a
regular basis, as new information becomes available.
2) Contact the National Gaucher Foundation (NGF) at 800-504-3189 or email us at ngf@gaucherdisease.org for
assistance in locating a doctor in your area.
3) Contact the pharmaceutical companies directly or visit their website.
Doctors and other Gaucher specialists may be added or deleted from the Treatment Center listings from time to
time, but the above contacts will be able to assist you with the most up-to-date information.
22

More Patients on
Zavesca® (miglustat) in 2009
Submitted by Ashley Smith
Actelion Pharmaceuticals
This has been a busy year for the Gaucher
community. At Actelion, we are continuing
our efforts to provide patients with treatment
options to better manage their disease today and
simultaneously pursuing important research to
develop even better therapies for patients in the
future.
We recognize that this year has brought challenges
to many patients living with Type 1 Gaucher
disease, due to the imiglucerase shortage. During
2009, we significantly ramped up production of
Zavesca® (miglustat) due to increased interest in
Zavesca by health care professionals and we have
seen an increase in the number of patients taking
Zavesca.
Advancing Treatment through Ongoing Research
Actelion is committed to following scientific
innovation where it leads, and we constantly drive
ourselves to learn more about Type 1 Gaucher
disease and lysosomal storage disorders to provide
better treatments for patients.
Actelion has been busy advancing an ongoing study
this year which looks at the safety and efficacy
of Zavesca at 24-months in patients with Type 1
Gaucher. The study completed enrollment last
year, and we expect results from the study in 2010.
We are excited that the FDA has recently
announced a public advisory committee meeting
to review the use of Zavesca for the treatment of
another rare lysosomal storage disorder.
We are also ramping up a number of new studies
which will be run by physicians interested in
learning more about Zavesca’s effects in lysosomal
storage disorders. We believe we will gain valuable
information about patients’ responses to Zavesca
and continue to learn more about the disease, which
could help physicians provide better treatment to
patients.
Sharing Patient Stories
One of our main company goals is to help connect the
Type 1 Gaucher community. As we move into 2010,
we are planning to launch a series of videos of patients
discussing their experiences living with Type 1 Gaucher,
and we hope that these videos will be of value to both
newly-diagnosed and those looking for support from
patients who may be going through similar challenges.
If you are interested in sharing your story about
Type 1 Gaucher disorder or treatment with Zavesca,
please contact Ashley Smith at (650) 243-2368.
Wishing the Gaucher Community a Happy Holiday
Actelion would like to wish the Gaucher community
health and happiness this holiday season and throughout
the next year. We look forward to continuing our efforts
to advance the science and treatment of lysosomal
storage disorders.
-----------------
If you are taking Zavesca and/or have questions about
Zavesca, financial support, or access to therapy, contact
your healthcare provider or call Actelion Patient Services at
866-ACTELION (866-228-3546).
Zavesca Indication and Important Safety Information
ZAVESCA is indicated for the treatment of adult patients with
mild to moderate Type 1 Gaucher disease for whom enzyme
replacement therapy is not a therapeutic option
(e.g., due to constraints such as allergy, hypersensitivity,
or poor venous access).
Please see www.ZAVESCA.com for full prescribing information.
Important Safety Information
In clinical studies, the most common adverse events due to
Zavesca included weight loss, diarrhea, and trembling in the
hand. Other common adverse reactions were excess gas,
abdominal pain, headache, and influenza-like symptoms. The
most common serious adverse reaction was muscle weakness
with or without pain and numbness. Patients should undergo
neurological examination at the start of treatment and every
6 months thereafter; Zavesca should be reassessed in patients
who develop symptoms of muscle weakness. Zavesca may
cause fetal harm if administered to a pregnant woman. Men
should maintain reliable contraceptive methods and not plan
to conceive while taking Zavesca and for 3 months after
discontinuing treatment.
23

Suzanne Krupskas has been a
registered physical therapist since
1978. She has experienced multiple
symptoms from Gaucher disease
since being diagnosed in 1981. She
is an advocate and speaker on the
subject of exercise and physical
therapy and has written many articles
on its importance for those who are
living with Gaucher disease. She can
be reached by calling the NGF or by
email at suzkrup@comcast.net.
Exercises to alleviate pain
1) Q: When I sit for a long period of time my
right buttock hurts and at times causes pain down
the leg. I had a right hip replacement 11 years ago.
This pain started approximately one month ago when
I changed my desk chair. Is there anything I can
do to relieve the pain when I’m sitting A.R. from
Rochester, NY
A: Yes. You may try to place a folded hand or dish
towel under your right buttock. That way your weight
would be distributed more on your left buttock. You
may not realize it, but you most probably weight shift
more on your right buttock than your left. As a result,
you are putting too much pressure on the sciatic nerve.
Many times placing the towel underneath one buttock
will solve the problem. Every individual places a
certain percentage more weight-bearing on one buttock
– and most often it is their dominant side. This advice
should help – also try this in your car.
2) Q: My left hip has signs of avascular necrosis.
I’m holding off on having a hip replacement as long
as possible. I find that when I walk on my treadmill
at approximately 3.2 mph at elevation 1 I do not limp
however, if I walk outside – after 10 minutes I begin to
limp. What is the difference D.K. from San Diego,
CA
A: When you are on the treadmill you are most likely
holding onto the side or front safety rails. When you
are holding onto the rails it takes a lot of pressure off
your hip. Outdoor walking is different: there is wind
resistance and uneven terrain.
There are so many advantages to do both. Outdoor
walking is beneficial due to being outside and getting
fresh air and sunshine (vitamin D) – great for the
bones. If you choose outdoor walking the days you are
not doing the treadmill, you may consider using a cane.
You would place the cane on your right side. To walk
with the cane at a good pace you would move the cane
simultaneously as you move your left leg forward.
You may not want to use it, but at least it would be
with you just in case you start to limp. The advantage
behind using the treadmill is that you can use it rain or
shine and there won’t be any wind or other extraneous
resistance. Both methods of doing a walking program
are beneficial for bone density and prevention of
osteoporosis.
3) Q: I have a herniated disc in L-4, L-5
area. I also have a compressed vertebra in L-3. My
orthopedist has recommended that I do an exercise
called ‘press-up’. That’s when I get on my stomach
and my hands are essentially under my shoulders and I
push my hands into the floor as I straighten my elbows
- my pelvis relaxes into the floor – my lower back
arches. This exercise hurts a lot and causes more pain
down my leg. The exercise that makes my back and
leg feel better is a pelvic tilt. What should I do M.A.
from Annapolis, MD
A: You must discuss this with your orthopedist. He
most likely wants you to perform a press-up so that the
herniated disc relieves itself from the nerve. Going
onto your stomach, helps to push the disc away from
the inflamed nerve.
My suggestion is to perform the press-up with a small
pillow underneath your pelvis and not to come up as
high as you may have been. The pillow will help to
support the lower back. The pelvic tilt is working the
back the opposite way. As you are tilting the pelvis
back – you are strengthening the abdominals and the
lumbar region. The best way to perform the pelvic
tilt is: lie on your back, knees are bent, place hands
by your sides, rock your pelvis back as you tighten
your buttocks…think of pushing your bellybutton in
towards your spine and hold the position for 3 to 5
seconds.
Also the ground surface is hard and unforgiving on the
joints, whereas the treadmill has shock absorbers to
relieve a lot of the weight-bearing compression.
24

4) Q: I’ve been reading your articles for years
and I always admire how you help others. Perhaps you
can help me. I have extreme right shoulder limitation.
I had a bone crisis in the shoulder at least 8 years ago –
but I never did get full use after suffering with the pain
and fever. Do you have any exercises I can do to get
more range of movement or is it too late K.P. from
Charlotte, SC
A: It all depends on how limited you are. It sounds as
if you have accommodated for the decreased shoulder
joint motion, however there is a chance for the
muscles, ligaments and tendons to elongate with the
correct form and exercise.
First, consult with your doctor prior to performing
any exercise routine. Compliancy with the exercise
regimen is important to see and feel the improvement.
Only go to the range of movement you have and then
hold that position for the described count. YOU MAY
FEEL A LITTLE SORE WITH THE ROUTINE –
BUT YOU SHOULD NEVER FEEL PAIN.
Perform the following exercises 3-4 times weekly: 1)
lie on your back, clasp your hands (palms to palms),
knees are bent, pillow under your head, raise your arms
up towards the ceiling keeping your elbows straight
– try to raise them up and over your head – hold the
stretch for 10 seconds…repeat for 10 times; 2) lie on
your back, (same as #1), place your hands underneath
your head, push your elbows back in towards the
pillow and hold the stretch for 10 seconds…repeat
for 10 times; 3) sit on a firm chair, clasp your hands
(palms to palms), both feet on the floor, raise your
arms up towards the ceiling without tilting the body –
hold the stretch for 10 seconds…repeat for 10 times.
May 8, 2009
Dear Stan
Yesterday, I lost my dear friend.
My heart is breaking and tears are flowing.
You left us all too soon.
I was proud to be your friend and co-president.
Your strength gave me strength.
I will miss our conversations and your wisdom.
Your energy and selfless devotion inspired me.
I admired how you took tragedy and turned it into a
constructive force.
Working with you was an honor.
Thanks for being you.
What will we do without you
We will celebrate your life to keep your memory alive.
We will continue your never ending crusade to
eradicate genetic diseases.
We will cherish our memories of you.
We will keep you in our hearts forever.
Your brilliant light will never fade.
Your star will twinkle brightly in the sky.
Correction to Spring 2009
Gaucher Community News
With love and friendship,
Marion Yanovsky
Co-President - NTSAD, NY Area
The NGF incorrectly listed the following donation
under “Individual Gifts” (page 6). We apologize for
listing Alan and Carole Kushnir’s donations in the $1 -
$99 category.
The listing should have appeared under the $100 -
$499 category and we thank them for their generous
donations.
25

CARE and CARE+PLUS Programs
Financial Assistance Programs for
Individuals with Gaucher disease
Linda Gometz
Executive Assistant
National Gaucher Foundation
Welcomes its Newest Staff Member
Linda Gometz is the new Executive Assistant who
joins the NGF after a successful 25-year career as
a legal assistant for some of the top plaintiffs’ law
firms in Atlanta.
Linda’s professional attitude and dedication are
only two examples of overall benefits she brings to
us. Simply put, she knows how to make problems
“go away” and has an easy-going nature while
applying the ability to stay organized, focused and
productive.
Linda will be providing administrative support to
the NGF, processing donations, managing the
Foundation’s database and membership records,
responding to individual inquiries through written
correspondence, telephone contact, and email.
You may have phoned the NGF recently and been
greeted by a slight southern accent! Linda will
most likely be your first point of contact with the
NGF.
Linda is a native of Atlanta, having lived in the
Sandy Springs area most of her life. She is the
mother of four grown children and grandmother of
seven! In her spare time she enjoys spending time
with her family, reading and volunteering.
We are excited to have Linda on board with the
NGF and she is a welcomed addition to our staff.
The National Gaucher Foundation, through the
National Gaucher Care Foundation, sponsors
two financial grant programs to help families and
individuals with Gaucher disease to pay for certain
Gaucher-related expenses. To be eligible for either
program, an applicant must:
a) Have Gaucher disease
b) Demonstrate extraordinary financial hardship for
eligible Gaucher-related expenses
CARE PROGRAM
The CARE Program grants funds to subsidize, or to
purchase in full, a health insurance policy (primary,
secondary or both), to which the patient is entitled
or eligible, but for which the patient does not have
adequate personal resources to enroll.
CARE+PLUS PROGRAM
The CARE+PLUS Program provides financial
assistance to eligible Gaucher patients for a variety
of Gaucher-related expenses, such as diagnostic
tests, infusion charges, travel expenses, and overthe-counter
medications. The program excludes
deductibles and co-pays.
Both programs involve an application process and
review by the Care Board for determination of
financial and medical necessity.
The National Gaucher Foundation realizes that
Gaucher patients have extraordinary needs that may
cause a financial burden on themselves and their
families. These two programs have been developed
to lighten this burden. For additional information
contact Barbara Lichtenstein, Program Director of
the CARE and CARE+PLUS Programs, at
(866) 346-8176 or (301) 963-4489.
26

In this issue of Gaucher Community News,
you will find an NGF donation card. We hope
that you will consider making a donation to
help the NGF with its programs.
This Newsletter attempts to report all items of interest
relating to Gaucher disease. The NGF will not willingly
reproduce inaccurate or libelous material. Information
related to treatments, (current or potential), therapy,
research, trials or studies that are featured in this
newsletter should be discussed with an individual’s
physician. All articles related to research, trials and
studies are submitted for publication by the
entity/organization named in those articles and the NGF
shall not be held liable for content therein. The editor
reserves the right to make corrections as are appropriate
and in accordance with established editorial practice in
material submitted for publication.
National Gaucher Foundation
Mission Statement
The National Gaucher Foundation (NGF), a
non-profit organization established in 1984, has
funded millions of dollars to support and promote
research towards the cause, treatments and a cure
for Gaucher disease. To meet the ever-increasing
needs of individuals with Gaucher disease and
their families, the NGF offers a wide range of
programs and resources for the benefit of the
Gaucher community.
The NGF funds research, offers financial
assistance, promotes education and awareness,
supports legislative issues and provides outreach
programs vital to the Gaucher community.
Through The National Gaucher Care Foundation,
the CARE Program and the Care+Plus Program
provide critical financial assistance to individuals
with Gaucher disease. In support of medical and
lay-community awareness, the NGF holds live
Web meetings, national conferences, patient
meetings and seminars and runs national and
regional marketing programs.
Gaucher Mentor Program
In June of 2008, the NGF launched its Mentor
Program to help both newly diagnosed and all
people affected by Gaucher and their family
members to cope better with their disease.
Many people have had to struggle alone and
without the aid of support or treatment and a
poorly educated medical community.
It is the goal of the Mentor Program that the
Mentors can make a difference in the lives of
others who have been affected by this disease
through answering their many questions and
concerns, empowering others and providing
information and positive reinforcement. If
you, a family member or friend have questions
related to Gaucher disease, please do not hesitate
to contact one of our mentors.
Go to www.gaucherdisease.org and click on
“Programs.” On that menu, you will see the
Gaucher Mentor Program. You can also use the
NGF’s “Site Search” option and just type in
“Mentors”.
Each mentor has extensive knowledge of
Gaucher disease from personal experience
through their children, family members
and themselves. They provide a wealth of
information, support and resources so that
families and individuals are never alone. Your
privacy and information are protected, so if you
have Gaucher-related concerns and questions, a
Mentor is just a click away.
27

On May 10, 1996, when I was 12, my father took me to
University of Pittsburgh Medical Center. I had surgery
on my leg three times. My enzyme dosage was changed
to the right level.
Ever since then, I have been healthy and feeling great.
In 1997, I applied for insurance and got coverage. I went
to Frick International Academy for middle school in
Pittsburgh.
Fan Ding graduates from Pennsylvania State
University with a BA in Finance.
Living with Gaucher Disease in
China and the U.S.
by Fan Ding
My name is Fan Ding. I was born in Beijing, China. I am
25 years old. I was diagnosed with Gaucher disease when
I was two. Gaucher is a rare genetic disorder that affects
fewer than 10,000 people worldwide. At the time, there
was no treatment available. My symptoms included easy
bleeding and bruising, excessive fatigue, anemia, and
enlargement of the belly due to an increase in the volume
of the spleen.
In 1988, at the age of four, I had my spleen removed at the
Children’s Hospital of Beijing. For a while, I felt better.
Then in the latter half of 1991, my symptoms returned and
my liver started to enlarge. I experienced joint and bone
pain and lack of energy.
In June of 1992, a Chinese magazine reported an article
about the development of a treatment for Gaucher in the
U.S. We got in contact with Dr. Barranger in Pittsburgh
who told us about enzyme replacement therapy.
Through many efforts and Project Hope, I received
the first treatment at Beijing’ Children’s hospital on
May 31th, 1993. After two months of treatment, my
hemoglobin increased, my liver shrank in size, and other
symptoms started to go away.
On November 28, 1995, I got a letter from then U.S.
President Bill Clinton saying that he was glad that the
members of the American medical community were
able to help me. However, due to economic reasons, my
dosage was lowered, the symptoms returned, and I got a
bone infection on my lower right leg. Eventually, I came
to the United States to get an expert opinion.
My father and I came into the U.S. with a B2 Visa
and continued to renew it until July 2000 when the
immigration office rejected our application for renewal.
Because treatment for Gaucher disease was not paid for
by the Chinese Health System, I was unable to receive
treatment in China, so my father and I stayed in the US
illegally. I continued my education at Schenley High
School in Pittsburgh while receiving my treatment at
UPMC every two weeks.
In August 2003, I started college at Pennsylvania and I
obtained my Bachelor’s Degree in Finance in three years.
Because of my illegal status, I paid international student
tuition rate while I was in college, and I could not get a
job or continue on to higher education after graduation. I
cannot obtain a driver’s license either.
There are many people who have helped me along the
way, and I am very grateful to them. I thank the U.S.
government and the medical community for helping to
save my life and have decided to take a chance to tell my
story even if it means I could be deported. I don’t want to
live under a shadow anymore and I feel like my life is a
miracle from God. I was told that I wouldn’t
live past 10 years-old, but, at this writing, I am 25.
There’s nothing I have to hide or be ashamed of. I just
did what I could to survive. In order for me to continue
living, I have to get treatment here in the United States.
I have been living in the U.S. for 13 years now, Pittsburgh
is home to me. Over the past years, I have continued to
make efforts to adjust to a legal status. I want to be able
to pay back to the U.S. with a little as I have. I want to
be a tax payer. Fortunately, I have gotten the attention of
former President Bill Clinton, former President George W.
Bush, and Secretary of State Hillary Clinton. I am asking
for help to find a way to live, but not “illegally.”
The story of my life being saved by the U. S. was covered
by newspapers, magazines, and television broadcastings
throughout China and there was a drama series made
based on my story as well.
28

I’ve always felt in debt to many people in the U.S,
as I owe my life to them. When I heard the Chinese
government donated $5 million to the U.S. government
toward helping the victims of Hurricane Katrina, I took
comfort knowing that the two countries across the world
are helping each other.
God has let me stay alive this long, He must have a plan
for me. I am asking for a chance to tell my story, and
hopefully I can find a way to live a normal life.
Fan Ding
glayfan6@msn.com
Below is part of an article written by staff reporter, Sun Lina from
China Today which has been paraphrased for the newsletter.
Living with Gaucher Disease
Ding Fan is terribly unlucky to have Gaucher disease, but
compared to other Gaucher patients, she is quite fortunate.
For the last two years she has lived with her father in
Pittsburgh, Pennsylvania. She misses her mother, and on
Mother’s Day she made a card for her. She wrote it in
both English and Chinese, cut out a family photo, pasted it
on a photograph of a Pittsburgh’s street, and posted it
to China
Her mother Zhang Xiuli misses her too. Talking about her
daughter and all who have helped in China and America,
tears welled up in her eyes. In June, when President
Clinton visited China, Zhang asked someone to paint a
traditional Chinese painting for her so she could
send it to the president. “I just want to thank our American
friends for all they have done for us,” she said.
Fourteen-year-old Ding Fan was diagnosed as having
Gaucher disease when she was two years old. It is an
inherited condition causing an enzyme deficiency that
leads to an accumulation of a fatty substance that is
produced during the normal cell cycle. Fewer than 1 in
40,000 people suffer from Gaucher disease.
Beijing Children’s Hospital told Zhang Xiuli that her
daughter might not live past 10 years of age. The very
though of such a premature death for her lovely baby led
her first to despair and then to action.
Ding Fang is an only child. After hearing of her condition,
many friends and relatives tried to talk the couple into
having another child while they tried to save their
daughter. But Zhang wouldn’t hear of it. She and her
husband dedicated themselves to their unfortunate child.
29
When Ding Fan was four, she began to suffer from
enlargement of the liver, and her doctor recommended
removal of the spleen. The operation helped - she
recovered quickly and soon was running and jumping like
any healthy girl. Her parents were happy, but four short
years later her liver again became enlarged and she could
barely stand - death seemed all too close.
To save her daughter’s life, Zhang Xiuli and her husband
Ding Pin began to find out everything they could about
Gaucher disease. These two junior high school graduates
became researchers, digging into every library in the city.
One day, Ahang Xiuli came across an article in News
References, reporting that American researchers had made
a breakthrough in treating Gaucher disease. She spent
the whole day deciphering statistics and asked someone
to write a letter in English, to Dr. John Barranger at the
Medical Center of the University of Pittsburgh. She
learned that there was indeed a new medicine, but it was far
too expensive. Ding Fan would need to have the treatment
for a least 3 years.
Ding’s parents tried their best to earn money, working
several jobs night and day. They sold all of the furniture
and electrical appliances and their friends and relatives
chipped in when they could. Zhang’s factory gave them
56,000 RMB (the equivalent of $8,201 U.S. DOLLARS).
Workers at the factory donated money, as did the Red Cross
of China. They changed it all into U.S. dollars and sent it
off to the U.S. At the same time, Dr. Barranger was doing
what he could for Fan. Then good fortune hit - Genzyme
agreed to donate a six-month supply of medication. Ding
Fan gradually improved and her liver returned to normal.
Zhang Xiuli wrote a letter to President Clinton to thank
America for all the help they had received. Shortly
thereafter, they received a reply from the President.
“I am delighted that members of the American medical
community were able to provide the medicine that your
daughter so desperately needed, and I am pleased to
learn that she is recovering. It is wonderful to know that
cooperation between our countries has saved Din Fan’s life
and I am grateful to you for sharing her story with me.”
Dr. Barranger never lost interest in Ding Fan and invited
her to America and arranged everything for her treatment.
In May, 1996, Ding and her father boarded the plane from
Beijing to New York. Ding Fan could barely walk and
had to be carried. When Ding first arrived, she lived at the
Medical Center of the University of Pittsburgh where she
had surgery and received treatment. Dr. Barranger’s efforts
to raise donations towards the operation and treatment was
met with great success.

Resources for Gaucher disease Treatments
and Treatment Protocols
Until recently, there was only one treatment available for Gaucher disease. Today, there are more
options, so it is important that you and your physician research the best treatment option for you. To
that end, we have compiled a list of companies that have treatments, treatment protocols and clinical
trials available.
Actelion
Treatment: Zavesca(R)
Website: www.actelion
Genzyme Therapeutics
Treatment: Cerezyme(R) (imiglucerase for injection)
Clinical Trials: Genz-112638
Note: The Phase III study has been expanded to accommodate those who have been affected by the Cerezyme shortage.
A Phase 3, Randomized, Multi-Center, Multi-National, Open-Label, Active Comparator Study to Evaluate the Efficacy
and Safety of Genz-112638 in Patients With Gaucher Disease Type 1 Who Have Been Stabilized With Cerezyme
Websites:
www.cerezyme.com
www.expressionofhope.com
www.genzyme.com
http://supplyupdate.genzyme.com/weblog/
Protalix Biotherapeutics
Treatment Protocol: prGCD
Websites:
www.protalix.com
http://www.protalix.com/Patients/ProtalixPatientsCare.html
Note: Pfizer and Protalix have agreed to develop and commercialize taliglucerase alfa, a plant-cell expressed form of
glucocerebrosidase (GCD) in development for the potential treatment of Gaucher’s disease. Pfizer will receive exclusive
worldwide licensing rights for the commercialization of taliglucerase alfa, while Protalix will retain the exclusive
commercialization rights in Israel.
Shire Human Genetic Therapies
Treatment Protocol: Velaglucerase Alpha
Websites:
www.bravecommunity.com
www.gaucherpatients
www.onepath.com
www.shire.com
For updates on Gaucher disease clinical trials in which the above companies are involved, go to
www.clinicaltrials.gov.
30

Pfizer and Protalix Announce Partnership
Agreement to Develop New Treatment
Option for Type I Gaucher Disease
Contact Us at the NGF
A potential new treatment option for Type I
Gaucher disease may be available to patients
worldwide in the near term. Drugmaker, Pfizer Inc.
announced this week that they have collaborated
with an Israeli biotech company to help develop a
promising enzyme replacement therapy that may
provide an alternative therapeutic option to patients
seeking treatment. Protalix Biotherapeutics Inc.
is employing a new plant-cell based technology
using genetically engineered carrot cells to
develop taliglucerase alfa. This will be the first
plant-based enzyme replacement therapy after the
product is approved by the U.S. Food and Drug
Administration (FDA).
According to the drug developers, taliglucerase
alfa is currently being provided to Gaucher
disease patients in the U.S. under the Expanded
Access Program (EAP) treatment protocol, as
well as to patients in the European Union under a
compassionate use protocol. Taliglucerase alfa has
successfully completed Phase III clinical studies
and will soon be submitted for a rolling New Drug
Application (NDA) by Protalix.
“Pfizer and Protalix are committed to combating
Gaucher disease and will combine their
complimentary expertise to bring therapeutic
options to patients in need,” said David Simmons,
president and general manager of Pfizer’s
Established Products Business. “We are working
to develop appropriate programs that are intended
to help patients have access to this treatment.”
Please email questions to
Gaucherpatients@pfizer.com.
Robin A. Ely, M.D.
President and Medical Director
Toll Free: 800-504-3189
Fax: 770-934-2911
robinbmd@aol.com
Rhonda P. Buyers
CEO/Executive Director
800-504-3189
FAX: 770-934-2911
rhonda@gaucherdisease.org
................................
Rosina M. Papantonio
Marketing Director
800-541-7549
850-934-0377 or 850-934-0378
Fax: 904-339-9980
rosina@gaucherdisease.org
Cynthia J. Frank
Director of Development
877-649-2742 or 415-839-5155
Fax: 415-839-5189
cyndi@gaucherdisease.org
Linda Gometz
Executive Assistant
800-504-3189 or 770-934-2910
Fax: 770-934-2911
linda@gaucherdisease.org
Barbara Lichtenstein
Programs Director National Gaucher Care Foundation
CARE Program & CARE+PLUS Program,
Care and Care+Plus.
866-346-8176
Fax: 301-963-4489
blichtenstein@comcast.net
31

2227 Idlewood Road, Suite 12
Tucker, GA 30084
Phone: 770-934-2910 or 800-504-3189
Fax: 770-934-2911
email: ngf@gaucherdisease.org
Website: www.gaucherdisease.org