Gaucher Community News
Spring 2014 Anniversary Issue
National Gaucher Foundation, Inc.
Celebrating 30 years of support and services for
families and individuals with Gaucher disease.
The National Gaucher Foundation, Inc.
Reaches a 30-Year Milestone.
Through various clinical trials and studies, there were
approximately 70 patients already on the treatment
at this time. I am thankful to the medical teams and
families who made this treatment for Gaucher disease
a reality.
Rhonda P. Buyers, CEO
National Gaucher Foundation, Inc.
Established in 1984, this year, the National Gaucher
Foundation, Inc. celebrates its 30th anniversary. As
I think about this significant milestone in the NGF’s
history, I am grateful and humbled by the families who
founded our organization and the medical community
who made treatment for Gaucher disease possible.
In 1991, Genzyme established the ICGG Gaucher
Registry. It is the largest ongoing longitudinal
international database that tracks demographic and
clinical outcome data from patients with Gaucher
Disease.
It includes more than 6,000 patients from more than
60 countries and is open to all patients worldwide. The
Registry’s patient case reports offer a valuable tool that
enables participating physicians to monitor response to
therapy and disease progression.
I’m reminded of the researchers, physicians, families,
and patients involved with the discovery that led to lifesaving treatment for those with Gaucher disease.
As I reflect on the significance of that discovery, the
magnitude of its impact is unequivocal. Not only was
it the first treatment for Gaucher disease, but it was
the first among others to follow. Additionally, it led to
treatments for other lysosomal diseases.
In 1994, the FDA approved another enzyme
replacement therapy also made by Genzyme called
Cerezyme ® (imiglucerase for injection). This was
made possible through the efforts of many dedicated
and brilliant individuals, researchers, physicians and
Gaucher specialists.
Prior to 1984, a gentleman with Gaucher Disease named
Rubin Bakin made it his mission to reach out to others
with the same condition. He wrote and distributed
an informal Gaucher Disease Newsletter to a small
community of individuals with Gaucher Disease.
Upon its founding, the NGF became the first
organization to promote awareness of Gaucher disease
to the lay, medical and religious communities. Its
outreach programs included meetings with Community
and religious leaders, as well as families and individuals
with Gaucher disease.
In 1984, the National Gaucher Foundation, Inc. was
founded by the Berman and Epstein families. The
organization’s mission was to raise funds for research
into the causes of and treatment for Gaucher Disease.
To this day, the NGF has carried on Rubin’s vision of
educating others by publishing the Gaucher Community
News, with his name on every edition.
In 1999, utilizing print, radio and television, the NGF
launched an ambitious educational media campaign.
Initially, the campaign was directed towards the Jewish
population, organizations, schools, synagogues and
community centers.
Also in 1984, Alglucerase, later to be called Ceredase ®,
was discovered by the National Institutes of Health (NIH)
by the research team led by Dr. Roscoe Brady. Brian
Berman, currently the NGF’s President and son of Dr.
Robin Ely and Dennis Berman, was the first person to be
infused with the experimental Alglucerase.
Although anyone can be affected by Gaucher disease,
Jews of Ashkenazi descent are at far greater risk of
being carriers or having the disease. Therefore, it was
incumbent upon the NGF to reach out to this group.
Today, these Gaucher awareness and educational
programs reach all populations and ethnicities.
In 1987, the Pioneer Program, which consisted of 12
volunteers who came from all corners of the U.S.,
entered clinical trials at the NIH to test Alglucerase. They
were medical pioneers who shared a unique glitch in
their genetic code that caused their liver and spleen to
enlarge, bones to fracture, platelet counts to plummet,
skin to bruise and a host of other health problems.
As people sought treatment for Gaucher, they also
sought financial assistance and educational programs.
Their needs were met through the NGF’s programs that
are intact today.
Ceredase ® (alglucerase injection), produced by
Genzyme, received FDA approval in the U.S. in April of
1991.
2
In August of 2003, the FDA approved Zavesca ®,
(miglustat), for Type 1 Gaucher disease for adults
with mild to moderate cases. This first oral substrate
reduction therapy for Gaucher disease is produced by
Actelion Ltd.
Stay connected and informed with the NGF and what’s
going on in the Gaucher community through Facebook.
The NGF posts the latest news and events, upcoming
meetings and other current events on a regular basis. Set
your Facebook alerts to notify you when the NGF posts
information so that you can keep abreast of the latest
news in the Gaucher community. You are welcome to share
information that may be helpful to others, post photos and
let us know how you and your family members are coping
with Gaucher disease.
Roscoe O. Brady, Scientist emeritus, after receiving the
Medal of Technology and Innovation from President Bush.
In 2008, Dr. Roscoe Brady, Scientist emeritus, received
the National Medal of Technology and Innovation,
the highest honor for achievement in science and
technology bestowed by the President of United
States.
You can search for us on Facebook or easily access the NGF
Page by visiting the NGF’s website at
www.gaucherdisease.org. Just click the Facebook icon on
the home page.
The NGF also utilizes Facebook as part of its Gaucher
awareness and edcucational campaign. Look for our ads
throughout the year.
In February of 2010, Shire Human Genetic Therapies
obtained FDA approval for VPRIV ®, (velaglucerase alfa
for injection), another enzyme replacement therapy.
In May of 2012, Elelyso ™ (taliglucerase alfa for
injection), also an enzyme replacement therapy,
was approved by the FDA. Distributed by Pfizer, Inc.,
Elelyso is produced by Protalix Biotherapeutics.
Gifts in Your Honor
Asking friends and family to give to the National Gaucher
Foundation in your honor for a special occasion or event is
a great way to help raise funds for Gaucher disease. You
can ask your guests to send a check directly to the NGF or
donate online. We can set up a dedicated web page for
you so that they can easily make the donation online and
you can see who has given to your cause. We’ll help you
customize the web page so that you can upload photos,
include links to other web pages and social networks and
send the link via email to your invited friends and family.
The fact that there are four treatments for Gaucher
disease Type 1 is remarkable. The fact that people
have a choice in the drugs their physicians can use for
treatment is of great significance to those with this
disease.
When one considers the lives of people prior to
treatment, it is sobering and heartbreaking. Bone
crises, bone infarctions, bleeding, enlarged spleens,
and enormous amounts of pain and psychological
torment were suffered by those who had Gaucher
disease. We can never forget about these selfless
people, many of whom offered themselves up for
purposes of research.
All gifts in your honor will be listed in our quarterly
newsletter.
Planning for the Future of
Our Children and Grandchildren
Although Type 1 and Type 3 can be treated by these
drugs, there is no treatment that can combat the
neuronopathic manifestations of Types 2 and 3.
Babies continue to die between 2 and 3 years of age
and those with Type 3 have a shortened life span. Our
hearts go out to the families and individuals affected.
Our efforts to educate and assist them are paramount.
Give the ultimate gift of life and consider the NGF in
your estate plans. You can show your support to future
generations with Gaucher disease and leave a bequest,
legacy or other planned gift to the NGF through an estate
plan or will.
Yes, at this great milestone, we have much for which
to be grateful. The greatest gift will be the cure for
Gaucher disease and I hope to see that in my lifetime.
Check with your estate planner on how you can help future
generations with Gaucher disease while maximizing the
financial benefits of charitable giving.
3
Rare Disease Day: A Special Day at Genzyme
Contributed by Jessi Colund, Corporate Communications Senior Specialist, Genzyme
Genzyme Rare Disease Day relay race
Allston to Genzyme Corporate headquarters.
Rare Disease Day is truly a special day at Genzyme and one highly anticipated by all. A lot of work goes into
preparing for the day - whether it’s educational materials for doctors, presentations for policymakers, art exhibits
for the public, community events for patients and caregivers, or running relays for employees - but when the work
comes to fruition, it’s always worth it because it serves a worthy cause: raising awareness and providing support
for those affected by rare diseases. This is the ultimate purpose of our company and why we come to work every
day.
Since Rare Disease Day’s inception in 2008, Genzyme has organized and supported events around the globe,
partnering with advocacy groups in many different countries.
Genzyme’s collaborations with Algeria and France for Rare Disease Day celebration
One of our primary global Rare Disease Day initiatives is the Patient Advocacy Leadership (PAL) Awards, a grant
program supporting non-profit patient organizations that work on behalf of individuals living with lysosomal
storage disorders (LSDs). Grants are awarded to organizations that seek funding for innovative programs and
projects that improve disease awareness, patient care and support, and education.
At a local level, we collaborate with patient groups to find creative ways to reach our target audiences, including
policymakers, physicians, and the general public. Here are a few examples.
4
The Arts
Telling stories - through words, visuals, or music - can be an extraordinary way to demonstrate to the public the
importance of supporting and understanding those with rare diseases.
Fotograf-Rare, a photography exhibition to be held in three Italian cities, accomplishes this through showcasing
photos of people living with rare diseases. The exhibit opening in Modena, Italy, will include the presentation of a
love-story book about a teenager with the rare disease glicogenosis and a Stradivari violin and orchestra concert
to raise funds for patient groups. Genzyme is partnering with the Italian Rare Disease Patient Movement and the
Italian Glicogenosis Association to organize this exhibit.
Similarly, a rare disease-focused art exhibit will be held at the historic Doric Hall in the Massachusetts State House,
organized by the Rare Disease United Foundation. Works of art from Genzyme’s Expression of Hope collection,
created and inspired by those living with rare diseases, will be included in the exhibit.
Public Spaces
Another useful way to reach the public is to take rare disease information to well-traveled places such as public
transit hubs or public parks.
Genzyme is the primary sponsor of Japan’s main Rare Disease Day event, held at Tokyo Station. The event includes
a panel exhibition, speeches about rare diseases from patients and students, and a library of rare disease themed
books.
In Sâo Paulo, Brazil, Genzyme employees will join patients and other supporters for a Rare Diseases Street Walk
between Mario Covas Park and Trianon Park, both located on the important cultural and commercial thoroughfare
Paulista Avenue.
Genzyme Celebrating Rare Disease Day in collaboration with (from left to right), Italy, Spain and Hong Kong.
Parliaments and Policies
Many health care and political policies affect the likelihood that rare disease treatments will be developed
and accessible to patients in various countries. Genzyme and local patient groups strive to have productive
conversations with policymakers to come up with sustainable, mutually beneficial solutions.
Genzyme is participating in parliamentary events from Australia to the UK, and is sponsoring and participating
on the “Science Behind Rare Diseases” panel discussion at the Rare Disease Caucus Briefing in Washington, D.C.
Additionally, Genzyme is partnering with the Hong Kong Alliance of Patients’ Organizations (HKAPO), the Hong
Kong Mucopolysaccharidoses and Rare Genetic Diseases Mutual Aid Group (HKMPS), and various stakeholders to
organize a roundtable on rare disease policy development. HKAPO will use the output of the meeting to develop a
white paper report on rare disease policy in Hong Kong.
Next Generation
Teaching the next generation of doctors, scientists, politicians, journalists, and others about rare diseases will go a
long way toward a brighter future for patients. 5
(continued on page 7)
10th Annual LDN WORLD Symposium
And finally, it allows us to network with the different
pharmaceutical companies that have current treatments
for Gaucher disease and are supporting research for
more treatments and cures.
February 10-13, 2014
Cyndi Frank, Patient Advocacy & Meetings Director
National Gaucher Foundation, Inc.
Each year hundreds of brilliant minds get together
for the annual Lysosomal Disease Network WORLD
Symposium that focuses on lysosomal storage
disorders (LSDs) and research toward better therapies.
It is an amazing and energetic multidisciplinary forum
presenting the latest information from basic science,
translational research and clinical trials for lysosomal
diseases. It is attended by medical professionals,
pharmaceutical representatives, patient advocacy
organization representatives, patients and their
family members. There were almost 1,000 people in
attendance.
Many of the presentations over the three-day period
specifically addressed Gaucher disease and research in
the field. Below is a list of those presentations:
Basic Research
Paula Rozenfeld, Universidad Nacional de la Plata,
LISIN – Osteoclastogenesis functional study of
osteoclasts precursors from Gaucher disease patients
Rick Hamler, Amicus Therapeutics – Glucosylceramide
and glucosylsphingosine quantitation by liquid
chromotograpy-tandem mass spectrometry to enable
studies of neuoronopathic Gaucher disease
This year’s underlying theme, “transitioning
molecular biology to human genetics,” highlighted
the successes of bringing initial discoveries into
successful clinical therapies. Enzyme replacement
therapy for Gaucher disease is a perfect example
of that. The symposium is divided up between the
three stages of research that it takes to bring a drug to
market. The first day was focused on basic research,
the second day translational research and the third day
clinical research.
Mia Horowitz, Tel Aviv University – The connection
between ERAD, UPR, Gaucher disease and Parkinson
disease
Gheona Altarescu, Shaare Zedek Medical Center –
a-Synuclein polymorphisms in patients with Gaucher
disease and Parkinson disease
Manoj K. Pandy, Division of Human Genetics,
Cincinnati Children’s Hospital Medical Center –
Gaucher disease: glucosylceramide-mediated TLR4MyD88 induction cause enhanced CXCL-13 secretion
and increased B cell trafficking in a mouse model
The initial Keynote address was by Dr. Gregory
Grabowski, who many of you know as one of
our own Gaucher specialists and a member of the
NGF’s Medical Advisory Board. Dr. Grabowski has
spent a lifetime studying genetic disease, with an
emphasis on identifying, treating and curing various
disorders, including Gaucher disease. He presented an
exceptional review of various diseases and treatment
and how far we have come in science, but he also
stressed how much more we still need to do. He
emphasized that there are many brain disorders within
the LSDs that we need to address, as we have yet to
find treatments that can cross the blood-brain barrier
to treat these diseases. These challenges in LSDs
leaves us with more work to do and how important
it is to attract younger generations to this research to
solve these problems.
The symposium is an excellent opportunity for the
NGF to meet and make contacts with physicians,
researchers and specialists in the field. It is also a
wonderful forum to meet other patient advocacy
organizations and discuss ways in which we can better
serve our disease communities.
Translational Research
Richard A. Moscicki, Deputy Center Director for
Science Operations, Center for Drug Evaluation and
Research, U.S. Food and Drug Administration – The
state of rare disease drug development: an FDA
perspective
Patrick V. Hopkins, Missouri State Public Health
Laboratory – Missouri’s first year experience with
full population pilot screening for Pompe, Gaucher,
Fabry and Hurler disorders using digital microfluidics
methodology
Ying Sun, Cincinnati Children’s Hospital Medical
Center – Clinical, biochemical and histopathological
effects of 11 years of enzyme therapy in Gaucher
disease, type 3: unexpected CNS vascular and cellular
manifestations
6
Translational Research (cont’d)
Javier Gervas-Arruga, IACS – Influence of genetic
variability related to bone remodeling and cytokine
profile in the development of bone involvement in
Gaucher disease
Tama Dinur, Shaare Zedek Medical Center –
Parkinsons disease penetrance in patients with
Gaucher disease and in glucocerebrosidase mutation
carriers
Employees take part in Genzyme’s Allston plant
relay race for Rare Disease Day 2014
(Rare Disease Day-Genzyme: continued from page 5)
Ari Zimran, Gaucher Clinic, Shaare Zedek Medical
Center – Oral administration of glucocerebrosidase
for the treatment of Gaucher disease: a completely
new approach
Next Generation (cont’d)
In Spain, Genzyme is working with the Federation
for Rare Diseases (FEDER) to teach schoolchildren
about the daily realities faced by their classmates
living with rare diseases through an ongoing program
called “Take a Rare Challenge,” in which any Spanish
elementary school can participate. The kickoff event,
called the First School Congress on Rare Diseases, was
attended by Spain’s Princess Letizia.
Clinical Research
Deborah Elstein, Gaucher Clinic, Shaare Zedek
Medical Center and Hebrew University-Hadassah
Medical School – Safety and efficacy of long-term
enzyme replacement therapy with velaglucerase alfa
in patients with type 1 Gaucher disease transitioned
from imiglucerase
In the UK, Genzyme is working on a media campaign
to support the recipients of a Genzyme PAL Award
who are raising awareness of rare diseases among
their fellow medical students, educating a new
generation of physicians about rare diseases.
Patient & Caregiver Support
Not only is it important to educate the public about
issues faced by those living with rare diseases, but it
is also important to support the patient community in
finding solutions for some of these specific issues.
Pilar Giraldo, Centro de Investigación Biomédica
en Red de Enfermedades Raras and Hospital
Universitario Miguel Servet – Safety and efficacy of
long-term velaglucerase alfa therapy in treatmentnaïve adults with type 1 Gaucher disease: results
from phase III trials
Timothy M. Cox, University of Cambridge,
Addenbrooke’s Hospital – ENCORE: a randomized,
controlled, open-label non-inferiority study
comparing eliglustat to imiglucerase in Gaucher
disease type 1 patients on enzyme replacement
therapy who have reached therapeutic goals
For example, Genzyme is working with the Philippine
Society for Orphan Disorders, Inc. (PSOD) to hold a
Household Business Forum teaching caregivers of
rare disease patients how they can earn a living while
staying home to care for their family member.
Joel Charrow, Ann & Robert H. Lurie Children’s
Hospital of Chicago – EDGE: a phase 3 study
evaluating once versus twice daily dosing of
eliglustat in patients with Gaucher disease type 1:
interim results from the lead-in period
At Genzyme, we are proud (and humbled) to play a
part in Rare Disease Day. We firmly believe that if we
all work together and do what we can, we will make
great strides.
Find out more about our global Rare Disease Day
activities on RareDisease. Genzyme.com
Leorah Ross, Genzyme, A Sanofi Company –
Eliglustat safety profile based on a pooled analysis of
data from four trials in Gaucher disease type 1
7
POSITION STATEMENT
NATIONAL GAUCHER FOUNDATION MEDICAL ADVISORY BOARD
JANUARY 7, 2014
Patients and physicians have contacted the National Gaucher Foundation regarding recent discussions and decisions by US
insurance carriers and specifically United Health Care to establish a preferred status category for one of the three enzyme
replacement therapies currently approved by FDA for treatment of patients with Gaucher disease. The position of the
National Gaucher Foundation and its Medical Advisory Board is as follows:
Imiglucerase, velaglucerase alfa, and taliglucerase alfa are bio-similar products that are not bio-identical. They are all highly
purified pharmacologic recombinant human glucocerebrosidase glycoproteins produced using different technologies and
derived from different cell lines: Imiglucerase (Chinese hamster ovary cell line); Velaglucerase alfa (human fibroblasts derived
from a fibrosarcoma cell line): Taliglucerase (carrot root cell line). Although the conformational crystal structures of all
three appear to be similar, there are minor differences in primary amino acid structure and more significant differences in
glycosylation.1,2 Globally since 1994, more than 5,000 phenotypically and genotypically diverse Gaucher disease patients
have been treated with imiglucerase with an extensive observational record of efficacy and safety. Since 2010, other enzyme
therapies for Gaucher disease, velaglucerase alpha and taliglucerase, were also approved by the FDA. Randomized and
observational clinical trials comprising a few hundred treatment-naïve and “switch” patients suggest that, during the initial
1-3 years of treatment, velaglucerase alfa and taliglucerase are arguably safe and of comparable efficacy to imiglucerase for
reversing disease manifestations such as anemia, thrombocytopenia, and hepatosplenomegaly, for reduction of biomarkers
and, in the case of velaglucerase alfa, for maintaining therapeutic gains in patients previously treated with imiglucerase.3-14
Velaglucerase alfa and taliglucerase appear to reduce bone marrow Gaucher cell infiltration measured indirectly with
quantitative chemical shift MRI imaging similarly to imiglucerase.8,15,16 Compared to imiglucerase, currently published
clinical trial and post-marketing data for velaglucerase alfa and taliglucerase with respect to patient-centered outcomes,
such as osteopenia, osteonecrosis, fractures, need for hospitalization for splenectomy, and health-related quality of life are
rudimentary.17-23 Although taliglucerase is currently authorized for use only in adults, imiglucerase and velaglucerase alfa
are approved for pediatric use. However, published data showing that ERT reverses Gaucher disease-associated growth and
development retardation in pre-pubertal children are only available for imiglucerase.24,25 Finally, in stable patients during
the “maintenance” phase of treatment, the safety and efficacy of infusion schedules less frequent than every two weeks is
supported by clinical trial evidence only for imiglucerase.26
Before endorsing a position that imiglucerase, velaglucerase alfa, and taliglucerase are interchangeable or that one ERT
should be granted preferential status over the others, we believe further study and clinical experience is warranted
and advisable. Differences in antigenicity and seroconversion (apparently less likely with velaglucerase compared with
imiglucerase and taliglucerase) to date appear to have little overall effect on safety and efficacy although some severe
adverse reactions have been reported.6,7,9-13,27 The long term effect of antigenic variation, if any, is not known. Differences
in safety profiles not directly related to the recombinant enzymes themselves but rather to some other aspect of the variant
manufacturing process are also possible and may explain atypical late-onset severe adverse events that are beginning
to appear in the literature.28 Because imiglucerase has had much longer “exposure time” than either velaglucerase or
taliglucerase, the reports of late onset events are largely confined to that product. That pattern may not necessarily hold up
in the future.
In vitro and animal studies of differential cellular uptake of the three ERTs have been inconsistent although most studies
were not done using Gaucher monocytes or macrophages or in Gaucher animal models.1,2,29,30 In the D409V/null Gaucher
mouse model, “significant differential molecular responses were observed in direct transcriptome (the set of all RNA
molecules, including mRNA, rRNA, tRNA, and other non-coding RNA) comparisons from imiglucerase- and velaglucerasetreated tissues.”31 Whether these cellular differences may ultimately relate to different long-term clinical outcomes including
late onset complications of Gaucher disease such as cancers and Parkinson disease is also currently unknown.
We understand that the United Health Care decision to assign preferential status to a single ERT was heavily, if not entirely,
based on important and legitimate financial considerations. We strongly endorse efforts to reduce personal and societal
costs of health care, including therapies for rare, orphan diseases such as Gaucher disease. However, should each insurance
company have a preferential and exclusive ERT, patients may have to switch treatments every time a new negotiation is
concluded and every time they change from one health insurance company to another, possibly with a change in physician as
well!
8
Furthermore, should it turn out that a large number of insurance companies choose the same preferential product so
that other manufacturers cut back on unneeded inventory, there would be an effective reversion to the single product
era of 2009 when the Gaucher patient community was devastated by a supply interruption due to a major manufacturing
malfunction.
For the past 29 years, the National Gaucher Foundation has represented thousands of individuals and families who
are affected by Gaucher disease. Its Medical Advisory Board, comprised of experts in the diagnosis, management and
treatment of Gaucher disease, collectively has more than 50,000 patient-years of clinical experience with this rare
disease. We firmly believe that treatment for Gaucher disease should not only be evidence-driven but also personalized
based on patient history and unique disease characteristics. Premature assignment of preferential placement of one
ERT for Gaucher disease (as exemplified by the new United Healthcare policy) undermines the value of expert physician
judgment, unnecessarily interferes with the physician-patient relationship and limits our ability to comprehensively
understand the effect of treatment on long-term clinical outcomes. Historically, patients and families affected by Gaucher
disease and other rare disorders were severely underserved. Remarkable progress has been achieved. This is not the
time for policy changes that have the potential to reverse the gains of the past and limit the prospects for the future.
REFERENCES:
1. Brumshtein B, Salinas P, Peterson B, Chan V, Silman I, Sussman JL, Savickas PJ, Robinson GS, Futerman AH. Characterization of geneactivated human acid-beta-glucosidase: crystal structure, glycan composition, and internalization into macrophages. Glycobiology.
2010;20:24-32. doi: 10.1093/glycob/cwp138.
2. Tekoah Y, Tzaban S, Kizhner T, Hainrichson M, Gantman A, Golembo M, Aviezer D, Shaaltiel Y. Glycosylation and Functionality of
Recombinant ß-Glucocerebrosidase from Various Production Systems. Biosci Rep 2013 Aug 28 [Epub ahead of print]; PMID 23980545.
3. Grabowski GA, Barton NW, Pastores G, Dambrosia JM, Banerjee TK, McKee MA, Parker C, Schiffmann R, Hill SC, Brady RO. Enzyme therapy
in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann
Intern Med 1995;122:33-39.
4. Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Zimran A.
Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the
Gaucher Registry. Am J Med. 2002;113:112-119.
5. Weinreb NJ, Goldblatt J, Villalobos J, Charrow J, Cole JA, Kerstenetzky M, Vom Dahl S, Hollak C. Long-term clinical outcomes in type 1
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10.1182/blood-2010-02-268649.
7. Burrow TA, Grabowski GA. Velaglucerase alfa in the treatment of Gaucher disease type 1. Clin Investig (Lond). 2011 Feb;1(2):285-293.
8. van Dussen L, Cox TM, Hendriks EJ, Morris E, Akkerman EM, Maas M, Groener JE, Aerts JM, Deegan PB, Hollak CE. Effects of switching from
a reduced dose imiglucerase to velaglucerase in type 1 Gaucher disease: clinical and biochemical outcomes. Haematologica. 2012;97:18501854. doi: 10.3324/haematol.2011.059071.
9. Zimran A, Pastores GM, Tylki-Szymanska A, Hughes DA, Elstein D, Mardach R, Eng C, Smith L, Heisel-Kurth M, Charrow J, Harmatz P,
Fernhoff P, Rhead W, Longo N, Giraldo P, Ruiz JA, Zahrieh D, Crombez E, Grabowski GA. Safety and efficacy of velaglucerase alfa in Gaucher
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10. Gonzalez DE, Turkia HB, Lukina EA, Kisinovsky I, Dridi MF, Elstein D, Zahrieh D, Crombez E, Bhirangi K, Barton NW, Zimran A. Enzyme
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Hematol. 2013;88:166-171. doi: 10.1002/ajh.23381.
11. Ben Turkia H, Gonzalez DE, Barton NW, Zimran A, Kabra M, Lukina EA, Giraldo P, Kisinovsky I, Bavdekar A, Ben Dridi MF, Gupta N, Kishnani
PS, Sureshkumar EK, Wang N, Crombez E, Bhirangi K, Mehta A. Velaglucerase alfa enzyme replacement therapy compared with imiglucerase
in patients with Gaucher disease. Am J Hematol. 2013;88:179-184. doi: 10.1002/ajh.23382.
12. Pastores GM, Rosenbloom B, Weinreb N, Goker-Alpan O, Grabowski G, Cohn GM, Zahrieh D. A multicenter open-label treatment protocol
(HGT-GCB-058) of velaglucerase alfa enzyme replacement therapy in patients with Gaucher disease type 1: safety and tolerability. Genet
Med. 2013. doi: 10.1038/gim.2013.154.
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9
Position Statement references continued From page 9
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Rosenbaum H, Giraldo P, Mehta A, Park G, Phillips M, Elstein D, Altarescu G, Szleifer M, Hashmueli S, Aviezer D. Pivotal trial with plant cellexpressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease. Blood. 2011;118:57675773. doi: 10.1182/blood-2011-07-366955.
14. Hollak CE. An evidence-based review of the potential benefits of taliglucerase alfa in the treatment of patients with Gaucher disease. Core
Evid. 2012;7:15-20. doi: 10.2147/CE.S20201.
15. Maas M, van Kuijk C, Stoker J, Hollak CE, Akkerman EM, Aerts JF, den Heeten GJ. Quantification of bone involvement in Gaucher disease:
MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging--initial experience. Radiology.
2003;229:554-561.
16. van Dussen L, Zimran A, Akkerman EM, Aerts JM, Petakov M, Elstein D, Rosenbaum H, Aviezer D, Brill-Almon E, Chertkoff R, Maas M, Hollak
CE. Taliglucerase alfa leads to favorable bone marrow responses in patients with type I Gaucher disease. Blood Cells Mol Dis. 2013;50:206-211.
doi: 10.1016/j.bcmd.2012.11.001.
17. Charrow J, Dulisse B, Grabowski GA, Weinreb NJ. The effect of enzyme replacement therapy on bone crisis and bone pain in patients with
type 1 Gaucher disease. Clin Genet 2007: 71: 205–211.
18. Sims KB, Pastores GM, Weinreb NJ, Barranger J, Rosenbloom BE, Packman S, Kaplan P, Mankin H, Xavier R, Angell J, Fitzpatrick MA, Rosenthal
D. Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of
a 48-month longitudinal cohort study. Clin Genet. 2008;73:430-440.
19. Mistry PK, Deegan P, Vellodi A, Cole JA, Yeh M, Weinreb NJ. Timing of initiation of enzyme replacement therapy after diagnosis of type 1
Gaucher disease: effect on incidence of avascular necrosis. Br J Haematol. 2009;147:561-570.
20. Mistry PK, Weinreb NJ, Kaplan P, Cole JA, Gwosdow AR, Hangartner T. Osteopenia in Gaucher disease develops early in life: Response to
imiglucerase enzyme therapy in children, adoslescents and adults. Blood Cells Mol Dis 2011; 46:66-72.
21. Khan A, Hangartner T, Weinreb NJ, Taylor JS, Mistry PK. Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease - a
study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry. J Bone Miner Res. 2012;27:1839-1848.
22. Elstein D, Foldes AJ, Zahrieh D, Cohn GM, Djordjevic M, Brutaru C, Zimran A. Significant and continuous improvement in bone mineral density
among type 1 Gaucher disease patients treated with velaglucerase alfa: 69-month experience, including dose reduction. Blood Cells Mol Dis.
2011;47:56-61. doi: 10.1016/j.bcmd.2011.04.005.
23. Weinreb NJ, Barranger J, Packman S, Prakash-Cheng A, Rosenbloom B, Sims K, Angell J, Skrinar A, Pastores GM. Imiglucerase (Cerezyme)
improves quality of life in patients with skeletal manifestations of Gaucher disease. Clin Genet 2007: 71: 576–588.
24. Kaplan P, Mazur A, Manor 0, Charrow J, Esplin J, Gribble TJ, Wappner RS, Wisch JS, Weinreb NJ: Acceleration of retarded growth in children
with Gaucher disease after treatment with alglucerase. J Pediatrics 1996;129:149-153.
25. Andersson H, Kaplan P, Kacena K, Yee J. Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher
disease type 1. Pediatrics. 2008;122:1182-1190. doi: 10.1542/peds.2007-2144.
26. Kishnani PS, DiRocco M, Kaplan P, Mehta A, Pastores GM, Smith SE, Puga AC, Lemay RM, Weinreb NJ. A randomized trial comparing the
efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with
Gaucher disease type 1. Mol Genet Metab 2009; 96:164-170.
27. Starzyk K, Richards S, Yee J, Smith SE, Kingma W. The long-term international safety experience of imiglucerase therapy for Gaucher disease.
Mol Genet Metab. 2007;90:157-163.
28. Vairo F, Netto C, Dorneles A, Mittelstadt S, Wilke M, Doneda D, Michelin K, Ribeiro CB, Quevedo A, Vieira T, Nalin T, Lueska S, Schwartz IV.
Enzyme Replacement Therapy in a Patient with Gaucher Disease Type III: A Paradigmatic Case Showing Severe Adverse Reactions Started a Long
Time After the Beginning of Treatment. JIMD Rep. 2013;11:1-6. doi: 10.1007/8904_2013_214.
29. Berger J, Stirnemann J, Bourgne C, Pereira B, Pigeon P, Heraoui D, Froissart R, Rapatel C, Rose C, Belmatoug N, Berger MG. The uptake of
recombinant glucocerebrosidases by blood monocytes from type 1 Gaucher disease patients is variable. Br J Haematol. 2012;157:274-277. doi:
10.1111/j.1365-2141.2011.08989.x.
30. Xu YH, Sun Y, Barnes S, Grabowski GA. Comparative therapeutic effects of velaglucerase alfa and imiglucerase in a Gaucher disease mouse
model. PLoS One. 2010;5(5):e10750. doi: 10.1371/journal.pone.0010750.
31. Dasgupta N, Xu YH, Oh S, Sun Y, Jia L, Keddache M, Grabowski GA. Gaucher Disease: Transcriptome Analyses Using Microarray or mRNA
Sequencing in a Gba1 Mutant Mouse Model Treated with Velaglucerase alfa or Imiglucerase. PLoS One. 2013;8(10):e74912. doi: 10.1371/journal.
pone.0074912.
10
Pfizer Continues to Raise Awareness of Gaucher Disease
Educational Efforts Show Pfizer’s Ongoing Commitment to the Rare Disease Community
The path to diagnosing Gaucher disease can be a frustrating process for those living with the
condition. Symptoms are often mistaken for other diseases and many physicians are not familiar
enough with the rare condition to consider testing for it straight away.
Understanding this gap in knowledge, Pfizer has focused their efforts on raising awareness of
Gaucher disease and the resources available to communities most affected by the disease,
including the Ashkenazi Jewish population.
“Here at Pfizer, we understand that education is the first step to help patients realize they are
not alone in the fight against Gaucher disease,” said Mariah Kelly, Senior Manager, Patient
Affairs Liaison at Pfizer, Inc. “Our job is to focus on connecting with the Gaucher community to
understand their challenges and help develop solutions that could assist all patients and their
families in need.”
Recently, Pfizer partnered with two influential Jewish organizations,
the Jewish Community Relations Council (JCRC) of New York and the
Council of Jewish Organizations of Flatbush (COJO), to host a
Gaucher disease educational event. The event was attended by 25
representatives from the community, including local rabbis, Jewish
community liaisons and New York hospital representatives.
“Connecting to the community and its leadership in a culturally competent
and caring fashion is a powerful tool,” said Rabbi Bob Kaplan, Director,
Center for Community Leadership at the JCRC. “Our partners at Pfizer have
shown us through this unique collaboration how much they care about the
community and meeting the needs of all those affected.”
Educational events are one of the many advocacy efforts Pfizer partakes in
to help raise awareness of Gaucher disease, and they will continue to
collaborate with organizations such as JCRC, to further support the rare
disease community.
Rabbi Bob Kaplan
Pfizer believes that by working together with community support groups, advocacy
organizations and other stakeholders, they will have a positive impact on those affected by
Gaucher disease and provide support to the patients and families who need it the most.
Please visit www.PfizerGaucherCommitment.com to learn more about
Pfizer’s treatment for Gaucher disease.
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11
National Gaucher Foundation, Inc. (NGF) Video Contest
Submit a video with your personal story about living with Gaucher disease. Win a $500 Cash Gift Card.
1st Prize - $500
2nd Prize - $300
3rd Prize - $150
In honor of its 30th Anniversary, the National Gaucher Foundation has launched a new campaign to promote education
and awareness of Gaucher disease. As part of that campaign, the NGF is promoting a video contest. We would like
for you to share, through video, your experiences of living with Gaucher disease and/or how it has affected your life.
By sharing your own story, you can help others, particularly those who are recently diagnosed.
You don’t have to have Gaucher to make the video. Participants can be a parent, sibling, relative, doctor, nurse,
counselor or a friend of someone with Gaucher disease – each presenting their own unique experience with their
connection to Gaucher.
The goal of this video contest is to find the most creative and effective ways to raise awareness of Gaucher disease.
One video per participant may be submitted for consideration. The NGF will determine the top ten videos and the final
three winners, to be chosen by the public, will each receive a cash gift card for first, second and third place. Video
ideas are only limited by your imagination. Content may entail both the physical and emotional aspects of living with
Gaucher disease and include your personal experiences at work, play, sports, in social settings, at home, on vacation,
or whatever you wish to share with others.
Guidelines: Content must include a brief description of Gaucher disease and its symptoms and cannot exceed 3
minutes.
You may submit a video which has previously been produced or a new video.
To submit your video for the NGF’s consideration:
a) Upload your video to YouTube;
b) Obtain the YouTube URL (web location);
c) Send the URL to us at ngf@gaucherdisease.org, so that we can view your video from You Tube.
d) All emails and letters to the NGF should reference “Gaucher video contest” in the subject heading.
e) Please do not send videos to the National Gaucher Foundation.
To determine the top three finalists, 10 runner-up videos will be posted at www.gaucherdisease.org to be voted on
by our website visitors. The NGF will promote the contest through various social media outlets, letters, emails and press
releases. The deadline for video submission is midnight Friday, August 29, 2014.
The top three videos will be announced at our website and through various media channels and air during the National
Gaucher Foundation’s Gaucher Conference on November 9 and 10 in Bethesda, Maryland. Additionally, the videos will
rotate and appear in the NGF’s marketing and educational SEM ads, banners and promotional materials.
Thank you for participating in this endeavor to promote education and awareness of Gaucher disease. We look
forward to your unique video submissions. If you have any questions or would like further information, please send us an
email with “Gaucher video contest” in the subject line, to ngf@gaucherdisease.org. Questions? Contact us at
770-934-2910 or 800-504-3189. Visit our website at www.gaucherdisease.org.
12
In celebration of our 30th anniversary, the NGF has the pleasure of sharing some exciting news and events planned
for 2014. We look forward to the participation of families and individuals with Gaucher disease, and others who have
associations and relationships to those in the Gaucher community, such as physicians and counselors, treatment and
infusion centers, organizations, pharmaceutical companies and institutions.
NGF 30th Anniversary: This year, the NGF celebrates its 30th year of support and services to families and individuals
with Gaucher disease. Established in 1984, the NGF was founded to fund research into treatments and a cure for Gaucher
disease and funded millions of dollars to make the first treatment available to everyone. Our financial, educational and
support services have given hope to hundreds of families and individuals with Gaucher disease.
2014 Gaucher Conference: Save the date: November 9 and 10. Doubletree by Hilton, 8120 Wisconsin Avenue,
Bethesda, MD. Details to follow. Gala 30th Anniversary party and dinner and awards ceremony to follow conference
on November 9th.
Win $500! Enter the Gaucher Video Contest: Submit a video based on your personal experience with Gaucher disease
and you could win a $500 Cash Gift Card! To help raise awareness of Gaucher, the NGF is promoting a video contest
challenging entrants to produce their most creative ideas for Gaucher awareness and education. Share, through video,
your experiences in living with Gaucher disease and how it has affected your life.
You don’t have to have Gaucher to make a video. Others who have a connection to Gaucher may also enter the contest.
Post your 3-minute video to YouTube and send the location of the URL to the NGF at ngf@gaucherdisease.org for
viewing. The video may be one that was previously produced, or a new one. The deadline for submission of video
URLs is August 29, 2014. Go to www.gaucherdisease.org for guidelines and more information.
NGF’s Gaucher Patient Meetings: This year, the NGF will hold educational meetings in various cities. Don’t miss a
meeting because we don’t have your contact information. Email your contact information to ngf@gaucherdisease.org to
receive meeting invitations.
Contribute to Gaucher Community News: The NGF publishes a quarterly newsletter to which anyone with a connection
to Gaucher disease may contribute. If you or a family member has Gaucher disease, we invite you to share your stories
and photos with the NGF for our newsletter and website. We know that many treatment and infusion centers and other
institutions have implemented some great Gaucher programs for children and adults who have Gaucher disease and for
their caretakers as well.
We invite you to share with us news articles and photos related to those programs and services, so that they can be
published in one of our newsletters and/or our website. News articles may be 250 to 400 words and may be sent to
ngf@gaucherdisease.org. Please refer to “Gaucher Community News” in the headline of your email or other
correspondence. We will consider your article for one of our four quarterly publications and advise when your article
will be run. It is our hope that you will also participate in the NGF’s above-referred to 2014 Gaucher video contest.
Gaucher treatment and infusion center contact and physician information: The NGF’s website has, for many years, had a
listing of Gaucher treatment and infusion centers and other institutions that provide services to the Gaucher community.
Please take this opportunity to update your information to the NGF, so that visitors to our site can determine where their
nearest Gaucher center is located. Email us at ngf@gaucherdisease.org and refer to “Treatment Center Updates” in the
subject heading. See “US Gaucher Physicians and Treatment locations” at our website for your listing.
Please visit us at www.gaucherdisease.org for more information and details regarding Gaucher disease and our programs
and services.
The National Gaucher Foundation, Inc., 2227 Idlewood Rd., Suite 6, Tucker, GA 30084 – 770-934-2910 or 800-504-3189
www.gaucherdisease.org – Email: ngf@gaucherdisease.org
13
National Gaucher Foundation, Inc. to host
National Gaucher Conference in 2014
Sharon Adams, Associate Director
National Gaucher Foundation, Inc.
Join the NGF as we celebrate our 30th Anniversary at our National Gaucher Conference on November 9
and 10, 2014. Our Conference will be held at the Doubletree by Hilton in Bethesda, Maryland.
Our two-day Conference will feature the top researchers and physicians in Gaucher disease discussing
the latest news and developments. Topics of discussion will include drug therapy news, bone disease,
Parkinson’s disease, types 1, 2 and 3 research and developments, social/psychological aspects, and
many other areas of interest. We will feature physician panel discussions, Q&A sessions with top
experts, and breakout groups and there will be plenty of time to visit with physicians, friends, and other
families from all over the world.
Make plans to join us for our Gala Celebration Dinner on November 9, 2014, to commemorate
the NGF’s 30th Anniversary, as we take a look back over the last 30 years and celebrate the many
accomplishments and advancements in the field of Gaucher disease. The top three videos from our
2014 Video Contest will be shown at the Gala. For more details on the video contest and how you can
enter to win $500, please visit our website at www.gaucherdisease.org and see our article on page 12 of
this newsletter.
The NGF negotiated a discounted room rate of $109/night at the Doubletree by Hilton, 8120 Wisconsin
Avenue, Bethesda, Maryland. Please make your hotel reservations early, as spots are limited! Please
use the following link, or go to our website at www.gaucherdisease.org and click on the Conference
homepage link to take advantage of the special rate.
http://doubletree.hilton.com/en/dt/groups/personalized/W/WASBHDT-NGF-20141108/index.jhtml
The Doubletree by Hilton is conveniently located near two Metro stops and approximately 1 hour from
three area airports: Baltimore/Washington Airport (BWI), Dulles Airport, and Reagan National Airport.
The National Institutes of Health (NIH) is located less than one mile from the hotel.
Agenda and speakers to follow. Please check our website regularly for updates on the Conference! If
you have never attended a National Gaucher Conference, this Conference will be the one you do not
want to miss!
14
“You Are Not Alone” – Pfizer’s Mentor Connect Program Brings Together Those Living
with Gaucher Disease
People living with Gaucher disease may face challenges even after their diagnosis.
Understanding this issue, Pfizer launched the Gaucher Personal
Support (GPS) Mentor Connect program, a resource for people
living with Gaucher disease. This program provides one-on-one
support and an opportunity to speak to someone who understands
what it’s like to live with this condition.
“Pfizer is proud to bring the Gaucher Personal Support (GPS) Mentor Connect program to the
Gaucher community,” said Mariah Kelly, RN, Patient Affairs Liaison, Pfizer. “We are committed
to improving the lives of those with Gaucher disease and believe this program can provide
support to people who are looking to share their journey and learn from the experiences of
others.”
GPS Mentor Connect is a private, one-on-one, over the phone support program that provides
people living with Gaucher the opportunity to connect with GPS Ambassadors who are adults
living with Type 1 Gaucher disease.
Those living with Gaucher can confidentially discuss a wide range of topics, from experience
with Gaucher disease to insurance/reimbursement challenges to daily struggles and successes,
with a GPS Ambassador. No matter where the person may be in the U.S., he or she is only a
phone call away from being connected with an Ambassador.
As part of the overall GPS program, callers will have access to GPS Case Managers, 24/7
support, and if eligible, assistance with insurance coverage and infusion support.
Visit www.GaucherMentorConnect.com to learn more about Gaucher disease and a treatment
option made in Israel from Pfizer. Information about Pfizer’s GPS program is also available
online or by calling 1-855-353-5976.
How An Enzyme Replacement Therapy is Made: Video Detailing Manufacturing Process
of Pfizer Gaucher Disease Treatment is Now Available Online
If you’ve ever wondered how an enzyme
replacement therapy is produced, a video made
available by Pfizer provides insights on how the
Company and their partner, Protalix
BioTherapeutics, manufacture their treatment
for Gaucher disease.
The video includes detailed information behind
how the treatment is made and what motivated
the companies to develop it. The video can be
viewed at www.GaucherTherapy.com.
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Suzanne’s Q & A Spring 2014
By Suzanne Krupskas
Physical therapist, Gaucher advocate, speaker and patient
What exercises or PT are recommended for these issues?
What should I avoid?
• Osteoporosis: What exercises can I do and what should I avoid?
• Arthritis in hip
1)
Q: I am 55 years old and was diagnosed with Gaucher disease in my 20s. Unfortunately now I have been
dealing with a mild case of osteoporosis in my lower back and in my right hip which I have known for the past
threeyears. However, the symptoms really crept up just a few months ago with lower back pain and right hip and groin
pain. My doctor has been encouraging me to start exercising with a trainer. I’ve been reading your column for many
years and I trust your professionalism and expert opinion. What exercises should I avoid?...........A.O. from Rumford, VT
A: Thank you for contacting me. I am sorry to hear about your osteoporosis. The good news is that with the proper
exercises and diet osteoporosis can be reversed. Osteoporosis is a result of reduced bone mineral density. So now it is
a matter of getting you on the right track to build bone and optimize bone health by performing exercises that would
not be detrimental and contraindicated for the osteoporosis. You should avoid the following exercises:
1) High impact activities – such as running, jogging, jumping or high impact aerobics. Those types of exercises
increase chances of compression in the spine, hips, knees, and ankles resulting in possible fractures.
2) The movement of bending forward at your torso – such as standing toe touch – the rounding of the back may
cause compression of the vertebra(s).
3) Sit-ups have to be avoided – when the trunk goes into the sit-up movement there is greater force and
compression on the vertebra(s). I would suggest crunches to strengthen the abdominals. The best way to perform a
crunch: lie on back, both knees bent, legs hip width apart, gently place your hands on the base of your head – fingers
loosely interlocked – elbows flared out – slowly raise your head and shoulders up as you look at your knees and
contract your abdominals – ‘think of belly button goes towards your spine as you slightly raise up. Nothing is forced –
and yet you should feel your abdominals contracting. Notice that you are gently raising your head and shoulders but
you are not going into a ‘traditional’ full sit-up.
4) Keep in mind to avoid bending forward at the waist or curling of the spine: that movement alone causes a
greater chance of compression and possible fractures of the vertebra(s).
5)
No leg presses – adds too much compression in the hips and vertebras.
6) No heavy lifting of weights – the greater the amount of weights being lifted, the greater chances of causing
traumatic fractures.
7)
No twisting movements at the waist – such as golf, bowling or tennis.
Various exercises I would suggest to incorporate into your routine are: walking on a treadmill with a slight elevation (14%); elliptical at a low to moderate level of resistance; trunk extension exercises: lying on your stomach – arms by your
sides slowly lift your trunk/torso up as you raise your head and arms up towards the ceiling; crunches; gentle weight
resistive exercises – either free weights or machines. Be mindful with your workouts – slow and controlled movements
are important to maintain good form and to optimize results. Good luck!
16
2)
Q: I know you are an expert both professionally and personally in dealing with orthopedic issues involving
Gaucher disease. We met many, many years ago at a Gaucher meeting. I’m 70 years old and was diagnosed in
approximately 1985. I was on the original Ceredase low-dose study at NIH and had been on Ceredase and then
Cerezyme for many years. Presently, I am on VPRIV. I’ve done quite well and have managed to lead a fairly normal
life. However, up until 6 months ago I developed some hip pain which subsequently subsided – but then the pain went
into my thigh. The orthopedist feels it’s due to arthritis of the hip. He has prescribed PT to see if it helps. The other
option (my orthopedist stated) in the future I may need a hip replacement. This worries me because the pain is in my
thigh and not in my hip. He explained that the pain is referred from the hip.
My questions are: 1) Do you have some exercises to recommend? 2) If the PT doesn’t help I would consider hip
replacement surgery, but would want a second opinion by an orthopedist familiar with Gaucher disease. Do you
have someone you would recommend? Even though I live in Atlanta, I would certainly consider traveling. Thank you in
advance for any help you can offer................S.L. from Atlanta, GA
A: Thank you for your email. It sounds like your orthopedist is on the correct track by stating that your thigh pain
is originating from your arthritic hip. This is called referred pain. I totally understand why you are questioning a
potential hip replacement when your pain is predominantly in your thigh. However, I’m assuming on x-rays and
perhaps other diagnostic tests it reveals wear and tear of the hip joint. Believe me, no one wants surgery! There are
a few parameters to go by: 1) pain scale (0 means no pain and 10 means extreme pain); 2) your quality of living – is
the hip holding you back from doing the basic activity of daily living such as: being independent with bathing, dressing,
driving?; 3) are you walking with a cane or any other assistive device?; 4) are you limited in your walking distance due
to your pain?
A second opinion would be wonderful for your peace of mind. I highly recommend my orthopedic surgeon, Dr. Patrick
Meere at NYU Medical Center. He is very familiar with Gaucher disease as he has a following in the Gaucher
community. Dr. Meere performed a very difficult hip/pelvic surgery on me. As he not only did a hip revision but also
a pelvic reconstruction. That was in 2003. It was daunting surgery for any surgeon but he took on the task due to the
fact he knew about the uniqueness of Gaucher bones and the challenges he was up against.
Once you begin PT and if the therapist wants to discuss your case with me please do not hesitate to share my contact
information. Also keep in mind, that PT should never cause any pain. You may feel some muscle discomfort but never
pain. Before you get started with the exercises as described below - it is very important to share them with your
orthopedist and PT. The following program is what I would recommend at this time:
• The following exercises should be done on your bed to avoid the strain of getting on the floor and up off the floor:
1)
Glut Sets: lying on your back, knees bent, squeeze your buttocks together and hold that position for 3-5
seconds…10 times / 2 sets.
2)
Inner Thigh Squeeze: lying on back, knees bent, place a folded pillow between your thighs/knees – push your
thighs together into the pillow and hold for 3-5 seconds 10 times / 2 sets.
3)
Modified Quad Sets: lying on back, place two pillows under your knees push your knees into the pillows as you
straighten your knees automatically your heels will come up from the bed, hold that position for 3-5 seconds
10 times/2 sets.
• The following exercise is standing on a book – in front of a kitchen counter or dresser:
4)
Hip Abduction: stand on a 2-3” height book, one foot on the book and the other foot is off the book – hold
onto the counter or other surface, stand straight (no leaning over), slowly swing the leg that is off the book in an
outward movement (knee straight) then slowly return to starting position…10 times then switch legs…2 sets for
each leg.
• The following exercise is standing on a step:
5)
Calf Raise: stand on one step with both feet – heels come off the step; hold onto the railing, slowly go up on
the balls of your feet…10 times / 2 sets.
The exercises I have outlined above are safe to be performed daily. If you have any questions do not hesitate to
contact me. Good luck with your hip.
17
Continued on page 18
continued from page 17
You asked about some exercises. There are various
websites that demonstrate exercises for Parkinson’s.
You may want to check them out. The most important
factor is to inform your doctor that you are starting an
exercise routine you need to share it with him or her.
Common symptoms of Parkinson’s are weakness and
lack of coordination. There are some exercises I would
suggest and they are safe for you to do daily or 3-4
times weekly.
3)
Q: I am 44 years old and was diagnosed with
Gaucher disease at the age of three. Recently I have
developed tremors and difficulty with walking. This
past month I have been shuffling more especially when
I go for my morning walks. I haven’t fallen yet – but I
have come close. My geneticist has diagnosed me with
Parkinson’s. She has referred me to see a neurologist
and to start physical therapy. Although I am quite
young to have this disease I was told that unfortunately
symptoms can occur at my age. These physical changes
are quite upsetting to me. Please explain the disease in
more of layman’s terms and would you be able to give
me a few exercises to do daily so that I won’t feel so
inept with my movements, mainly with walking and with
balance. Thank you so much.
J.B. from Scottsdale, AZ
Standing position with legs hip width apart:
1)
Stand Punching Forward: holding onto 2 pound
dumbbells in each hand, stand with legs hip width
apart; palms face each other chest level and extend
one arm out in front of you then as you pull that one in
then extend the other arm. Alternate the movement for
a total of 10 times for each arm / 2 sets.
2)
Bicep Curls: same position as above; hold onto
the dumbbells in each hand, palms face forward, upper
arms held tightly into your sides of your torso; bend
your right elbow then straighten it then bend your left
elbow. Repeat in the alternating movement10 times for
each arm / 2 sets.
3)
Push Back: same position as above, arms by
your sides, palms face back, elbows straight, push both
arms back simultaneously, then return arms by your
sides. Repeat 10 times / 2 sets.
A: The cause of Parkinson’s disease is due to low levels
of a brain chemical (neurotransmitter) called dopamine.
Dopamine is involved in controlling movement. However,
with Parkinson’s disease the shortage of this brain
chemical occurs when the nerve cells (in the part of the
brain called the substantia nigra) begin to deteriorate
and fail. The cause of this disease is still being
researched. Genetic variants have been implicated in
some cases with people diagnosed under the age of
50. This is known as early-onset Parkinson’s. Still there
are other factors that are being investigated such as
toxins in the environment and free radicals (by-products
that cause damage to the cells) that accumulate in our
bodies.
Stand with no weights:
4)
March in Place: stand and hold onto the back
of a chair or a counter, hold with a light touch, raise one
thigh up as high as you can without losing your balance
and without leaning to one side…then bring that leg
down…repeat alternating in a marching movement but
continue to hold on for support 20 times for each leg.
5)
Raise up on the Balls of Feet: stand (feet
straight in neutral position) if you need support hold
onto a counter or back of a chair, slowly raise up on the
balls of your feet then down…10 times / 2 sets.
6)
Stand on One Leg for 10 to 20 seconds: hold
onto the counter or back of the chair, light touch, stand
on one leg for a count of 10 seconds then work your
way up to 20 seconds. Once you have skilled doing this
with a light touch try letting go from your supportive
surface.
Once again, it is very difficult to determine the cause.
The big picture is to stay as healthy as possible. The
most important thing is to decrease inflammation
in the body as Parkinson’s disease causes extreme
inflammation within the cells in the body. To give
you some pointers: try to avoid processed foods,
MSG, aspartame, sugars, white flour foods and try to
incorporate greens, fresh fruits, quinoa, brown rice, fish
(wild caught), organic meats, raw nuts, raw seeds, and
for dairy try goat cheese. It is better for our gut and
is assimilated better in our digestive system than dairy
from cows. Many people with Parkinson’s unfortunately
suffer with constipation so of course it is another reason
to eat as healthy as possible.
18
Sit on a Firm Chair with a Back:
7)
Thigh Squeeze: sit with feet on the floor,
place a folded bed pillow between your thighs/
knees, squeeze your thighs into the pillow and hold
for 3-5 seconds 10 times / 2 sets.
8)
Knee Straightening: slowly straighten
your right knee as much as you can feeling the
contraction in your thigh – hold the position for 3
seconds…then lower…then straighten your left
knee and again hold for 3 seconds. Repeat 10
times for each leg / 2 sets.
9)
Arms Up to Ceiling: remain sitting with feet
flat on floor, clasp your hands & slowly raise your
arms up to the ceiling then slowly lower to your lap
10 times / 2 sets.
10)
Neck Rotation: place a pillow on your lap,
slowly turn your head to the right as you try to get
your chin on the right shoulder then slowly turn your
head to the left. Again try to get your chin on your
left shoulder…repeat 5 times for each side with a
3 second hold.
NATIONAL GAUCHER CARE
FOUNDATION, INC. (NGCF)
CARE & CARE+PLUS PROGRAMS
Much has changed in the Gaucher community. New
treatments have been approved, new treatment facilities
identified, and there are many changes in protocol. We at the
National Gaucher CARE Foundation want you to know that
the CARE and CARE+PLUS Programs are available to all
individuals, whether you are on therapy or not. It also makes
no difference what drug your physician has prescribed. The
following is a brief summary of both programs:
CARE Program
Eligible Expenses:
Insurance premiums (primary, secondary or both).
The exercises should never cause any pain –
however, you may feel some muscle soreness. That
is normal. Take a day rest from exercise and then
resume the following day.
Eligibility Criteria:
Anyone with a diagnosis of Gaucher Disease who cannot
afford their insurance premiums (as defined by the Medical
Advisory Group).
Keep me informed on your progress. Stay positive.
This is a wonderful start!
CARE+PLUS Program
(This program is not currently accepting applications.)
Eligible Expenses:
Diagnostic tests and other ancillary medical expenses
for Gaucher disease not covered by insurance. (Excludes
deductibles and co-pays). Infusion charges for enzyme
replacement therapy not covered by insurance. (Excludes
deductibles and co-payments). Travel expenses for Gaucher
evaluations and/or to and from infusion sites. Over-thecounter medications prescribed for Gaucher disease. Other
Gaucher-related expenses (deemed eligible by the Medical
Advisory Group).
Resource for Women Who Are Pregnant or
Nursing with Gaucher disease
Submitted by Dee Quinn, MS, CGC; member of
MotherToBaby (formally known as OTIS)
MotherToBaby is a non-profit, toll-free phone
resource dedicated to providing evidence-based
information to mothers, health care professionals,
and the general public about medications and other
exposures during pregnancy and while breastfeeding.
Our website contains over 100 fact sheets, designed
for the public and available in English and Spanish.
Eligibility Criteria:
Anyone with a diagnosis of Gaucher disease who
demonstrates an extraordinary financial hardship for
eligible Gaucher-related expenses (as defined by the
Medical Advisory Group).
We have recently developed fact sheets addressing
Gaucher disease in pregnancy and breastfeeding, the
use of therapies such as enzyme replacement and
substrate reduction and the use of bisphosphonates.
If you are interested in these programs or have any
questions, please call (301) 963-4489 or
866-346-8176. For online information, click
on National Gaucher Care Foundation at
www.gaucherdisease.org.
In addition, our toll-free number can be used within
North America to discuss questions you may have.
Please visit our website at: www.mothertobaby.org
or call toll-free at: 1-866-626-6847.
Printable brochures, forms and an application are online at
the NGF website, www.gaucherdisease.org.
19
Contact Us at the National Gaucher Foundation, Inc.
Board of Directors and Officers
Brian E. Berman
President
Dennis L. Berman
Treasurer
Robin A. Ely, MD
Director
Michael David Epstein
Chairman/Secretary
NGF Headquarters
2227 Idlewood Road, Suite 6
Tucker, GA 30084
Email: ngf@gaucherdisease.org
Web: www.gaucherdisease.org
800-504-3189 or 770-934-2910 - Fax: 770-934-2911
Rhonda P. Buyers
Rhonda P. Buyers
CEO
rhonda@gaucherdisease.org
800-504-3189 or 770-934-2910
FAX: 770-934-2911
Sharon L. Adams
Associate Director
404-797-2797 - Fax: 877-681-1945
sharon@gaucherdisease.org
Rosina M. Papantonio
Marketing and Communications Director
850-934-0377 - Fax: 904-339-9980
rosina@gaucherdisease.org
Sharon L. Adams
Cynthia J. Frank
Patient Advocacy and Meetings Director
877-649-2742 or 415-839-5155
Fax: 415-839-5189
cyndi@gaucherdisease.org
Barbara Lichtenstein
Programs Director
National Gaucher Care Foundation
CARE Program & CARE+PLUS Program,
Care and Care+Plus.
866-346-8176 or 301-963-4489
Fax: 301-963-4489
blichtenstein@comcast.net
20
Rosina M. Papantonio
National Gaucher Foundation Announcement
Changes in personnel responsibilities
Rhonda P. Buyers, CEO
National Gaucher Foundation, Inc.
In an effort to provide the best possible services to the Gaucher community, the National
Gaucher Foundation is pleased to announce the following changes in positions and
responsibilities of its staff:
Sharon Adams, Associate Director, will be handling project management, including the
CENA Project and Gaucher Advisory Group. She will also assist the CEO with day-to-day
operations.
Cynthia Frank, Patient Advocacy and Meetings Director, will be available to patients and
family members to answer specific inquiries for assistance and available resources. She
will also organize and attend patient educational meetings throughout the country.
In this 30th Anniversary issue of the Gaucher Community Newsletter, along with new job
assignments, we’ve included some photos of the NGF personnel and National Gaucher
Care Foundation. We look forward to seeing many of you at the National Gaucher
Foundation’s Gaucher Conference, November 9 and 10, 2014.
Barbara Lichtenstein
Cynthia J. Frank
21
Heather Lau, MD
Assistant Professor, Director of the
Lysosomal Storage Diseases Program
Department of Neurology
The Neurogenetics Program at NYU Langone
Medical Center runs a full service clinical
facility with a focus on inherited disease of
the nervous system.
What’s New at NYU Langone Medical Center
Dr. Lau joined NYU Langone Medical Center in 2013. She is initiating a series of lectures at women’s health conferences
and is also involved in various Lysosomal Storage Disease programs. NYU Langone Medical Center has most recently
begun a series of meetings and developed plans for support groups specifically for families and children with Gaucher
disease. Below are a few of the upcoming meetings.
NYU Langone Medical Center will be hosting a program for children and adolescents with Gaucher’s Disease and
other related Lysosomal Storage Diseases, on Sunday July 13, 2014 from 11:00 am – 2:00 pm at the NYU Langone
Center for Musculoskeletal Care. They will also be hosting a program for adults with Gaucher’s Disease and other
related Lysosomal Storage Diseases, on Sunday June 29, 2014 from 11:00 am – 2:00 pm at the NYU Langone Center for
Musculoskeletal Care. Both programs will focus on:
•
Management of Gaucher’s Diseases and related Lysosomal Storage Diseases –
Including Hematology Related Issues (Multiple Myeloma and Platelets during Pregnancy)
Endocrine Related Issues (i.e., Osteopenia and Osteoporosis)
Update on Therapies (Current and New)
•
Coping with a Chronic Illness and Pain, Including Pet Therapy
•
Health and Nutrition: Incorporating Nutrition and Fun into Your Diet
The Infusion Center
Patient care and comfort are critical components of
CMC’s ultra-modern Infusion Center. Each of its eight
private bays for infusion therapy on the fourth floor has
reclining chairs, flat-screen TVs and Wi-Fi. In addition,
a licensed provider and team of nurses are on duty at all
times to respond to your needs. Above photo features
private infusion bays. Photo at right is the check-in area
for the Center for Musculoskeletal Care facility, where the
infusion center is located.
Streamlined Service
A full-service pharmacy provides support to the Infusion
Center as well as other areas within CMC, reducing
waiting times for medications. The Rheumatology Service
is also located in the same area to coordinate your care and
scheduling.
The Infusion Center at NYU Langone’s Center for Musculoskeletal Care (CMC)
333 EAST 38TH ST (BETWEEN FIRST & SECOND AVES) 4TH FLOOR
New York, NY 10016
Tel: (646) 501-7400, Fax: (646) 501-7228 - Email: Ranit.Shriky@nyumc.org
22
30th Anniversary Online Event
In celebration of its anniversary, the NGF is providing a fun
and engaging visit to everyone stopping by our website from
the end of March until the end of the year. As part of that
visit, people will be treated to a variety of games animation,
education, videos and more. Wheel of Fortune will be
featured at the event.
During the event, by the last quarter of 2014, visitors will
also be able to view some of the videos sumitted to the
NGF’s video contest.
We hope that you will enjoy your visit to our online event and
help us celebrate the good fortune we have had during the
past thirty years.
We have had the pleasure of knowing and working with some
of the most brilliant Gaucher researchers and physicians
on the planet. We have gotten to know personally many
families and individuals with Gaucher disease and have had
the opportunity to assist them in various ways through our
programs. The organizations and institutions with which
we have worked and collaborated have been wonderful
contributors to the NGF. We have, indeed been fortunate.
Gaucher Treatment/Infusion Centers and
Comprehensive Gaucher Centers
Please provide your updates to the NGF
If you are a recent addition to the number of
Gaucher treatment centers throughout the
country, you may not be aware that the NGF
has a listing of these centers at their website.
The information is published for the benefit
of families, those with Gaucher disease and
the physicians treating them.
Without your assistance, it is not possible
to fulfill the needs of those who contact the
National Gaucher Foundation about centers
in their area.
The NGF receives dozens of calls each month
in an effort to find centers and institutions
that are the closest to where they live.
If you would like to help the NGF help
others, please look at your data as it appears
at our website and let us know of any
changes or additions.
Wheel of Fortune
There will be a ranking of the top score and visitors can
try to beat that score. The high score list will appear
under the Wheel of Fortune.
December 12th is the deadline for determining the top 3
winners and each will win a prize from the NGF.
For more information, visit our 30th Anniversary online
event at www.gaucherdisease.org. We look forward to
your visit.
23
Please go to www.gaucherdisease.org and
under “About Gaucher,” you will find the
“Physician and Treatment Location List.”
If there are changes, you can email them
to ngf@gaucherdisease.org and we will
make the revisions. Please put “Gaucher
Treatment Centers” in the heading of your
email.
Thank you for your assistance.
Anyone can be affected by Gaucher disease, regardless of age, gender or ethnicity.
For 30 years, the NGF has given hope and support to hundreds of families and individuals affected by Gaucher.
National Gaucher Foundation, Inc.
2227 Idlewood Road, Suite 6, Tucker, GA 30084
800-504-3189 or 770-934-2910
Fax: 770-934-2911 - Email: ngf@gaucherdisease.org
Web: www.gaucherdisease.org
Gaucher Community News was founded by Rubin Bakin and is produced and distributed by the National Gaucher Foundation, Inc.