Resources And Other Relevant Links
Medical ID Jewelry. To order and get a 10% discount, simply click on the American Medical ID icon.
American Medical ID is pleased to announce our partnership with the National Gaucher Foundation. Together we aim to increase awareness of the importance of medical IDs and promote their use for those living with Gaucher's Disease.
National Gaucher Foundation's website visitors receive 10% off their medical ID purchase AND an additional 10% is donated back to the foundation to help support educational programs. To take advantage of this offer, click the link below to place your order ensuring code GAU13 appears in the Promotional Code area at the end of your checkout. Please note that your 10 percent discount will not appear until the final Checkout page. Click here to order
Caregiver Action Network
The Caregiver Action Network is the nation’s leading family caregiver organization working to improve the quality of life for the than 90 million Americans who care for loved ones with chronic conditions, disabilities, disease, or the frailties of old age. CAN serves a broad spectrum of family caregivers ranging from the parents of children with special needs, to the families and friends of wounded soldiers; from a young couple dealing with a diagnosis of MS, to adult children caring for parents with Alzheimer’s disease. CAN (formerly the National Family Caregivers Association) is a non-profit organization providing education, peer support, and resources to family caregivers across the country free of charge.
2000 M St. NW
Washington, DC 20036
Visit Us: www.caregiveraction.org
Email Us: email@example.com
Children’s Gaucher Research Fund
The Children's Gaucher Research Fund is a non-profit organization that raises funds to coordinate and support research aimed at finding a cure for Gaucher disease (Type 2 and Type 3) as well as providing support to families who have children who battle this disease. Type 2 and Type 3 Gaucher disease is a progressive debilitating genetic disease which attacks children, causing a variety of systemic and neurological medical complications. Our goal is to find a cure for Type 2 and Type 3 Gaucher disease. Background Gregory and Deborah Macres are the founders of the Children's Gaucher Research Fund. Their son Gregory, born January 29, 1993, passed away on April 13, 1997, due to Type 3 Gaucher disease.
A service of the U.S. National Institutes of health, ClinicalTrials.gov is a registry and results database of publicly and privately supported clinical studies of human participants conducted around the world.
Expression Of Hope
Expression of Hope is a global program featuring works of art by the community touched by lysosomal storage disorders (LSDs). Our vision is that those who experience this art will be inspired and moved by the powerful expressions of human spirit which the pieces will reveal.
The History of the development of a treatment for Gaucher Disease from those who were there. Hear interviews from 2006 with Dr. John Barranger, Dr. Roscoe Brady, Dr. Ernest Buetler, Dr. Ed Ginns, Dr. Robin A. Ely, Dr. Neal Weinreb, Brian Berman, Abbey Meyers, Mary Nathan, Representative Henry Waxman and Henri Termeer, past President , Director and Chief Executive of Genzyme Corporation. http://www.gauchervoices.com
The GaucherLife website, supported by Genzyme, is a source of information and advice on living with Gaucher disease for patients, family and friends. As well as information on Gaucher disease and specialist care centres, there are regular news items, videos and articles, for example, on how to look after your bones, being the parent of a children with type 3 Gaucher disease, teenagers with Gaucher disease, the implications of Parkinson's disease for Gaucher families, current research, and an intriguing video story from a talented fashion student who is using Gaucher disease as the basis for her final year fashion designs. The site actively encourages comment so that it can evolve to meet users' needs and interests. http://www.gaucherlife.co.uk
Genetic Disease E-Mail Discussion List
An e-mail discussion list dealing with several genetic diseases, of which Gaucher Disease is the most common. The Genetic-Disease E-Mail Discussion List is an excellent way to connect with others interested in Gaucher disease. There is a strong patient presence and subscribers include professionals, researchers, religious leaders, family members, and others. The names and addresses of subscribers to this list are NOT publicly available.
In line with Genzyme's commitment to develop products designed to address unmet medical needs, Genzyme Therapeutics concentrates on the treatment of genetic and chronically debilitating diseases. Research is directed at the underlying causes of disease and the development of the most effective long-term therapeutic solution. With six therapeutic products on the global market and a robust pipeline, we are helping to improve the quality of patients' lives worldwide.
500 Kendall Street
Cambridge, MA 02142
Phone: (800) 745-4447
Fax: 617 252 7600
Gauchers Association (UK)
Evesham House Business Centre
48/52 Silver Street
Gloucestershire, GL11 4ND United Kingdom
Phone #: 441-453-549231
800 #: --
Home page: http://www.gaucher.org.uk
Gaucher Associations around the World
The following countries have established Gaucher associations.
We know of patients and physicians in other countries. If your country is not listed above, e-mail us and we may be able to find someone with knowledge in your own country. www.gaucher.org.uk
Genetic Alliance increases the capacity of genetic advocacy organizations to achieve their missions and leverages the voices of millions of individuals and families living with genetic conditions. With a 20-year history as a 501(c)(3) not-for-profit organization, Genetic Alliance is dedicated to improving the quality of life for everyone living with genetic conditions. We are committed to capacity building in all communities. The technical assistance we provide to advocacy organizations results in measurable growth: increased funding for research, access to services, and support for emerging technologies.
For booklet produced by the Genetic Alliance to help families discuss Gaucher disease with their family click here: How Do I Talk To My Family about Gaucher?
4301 Connecticut Ave. NW
Washington, DC 20008-2369
Main office: (202) 966-5557
Fax: (202) 966-8553
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
Home page: http://rarediseases.info.nih.gov/GARD/
Global Genes Project
The Global Genes Project is one of the leading rare and genetic disease patient advocacy organizations in the world. The non-profit organization is led by Team R.A.R.E. and promotes the needs of the rare and genetic disease community under a unifying symbol of hope – the Blue Denim Genes Ribbon™. What began as a grassroots movement in 2009 with a few rare disease parent advocates and foundations has grown to over 500 global organizations.
Rare and genetic diseases affect 1 in 10 Americans, 30 million people in the United States, and 300 million people globally. Over 7,000 distinct rare diseases exist and approximately 80 percent are caused by faulty genes. The National Institutes of Health estimates that 50% of people affected by rare diseases are children, making rare diseases one of the most deadly and debilitating for children worldwide.
Global Genes is a leading rare disease patient advocacy organization whose mission is simple: to eliminate the challenges of rare disease. They do this through developing educational resources, providing critical connections, and equipping advocates to become successful activists.
RARE Toolkits are educational resources that provide critical information on topics important to the rare disease community. Working collaboratively with patient advocacy partners and other key rare disease stakeholders, Global Genes incorporates firsthand accounts into the toolkits to provide increased value. These are resources put together by the rare disease community for the rare disease community!
You can access the rare toolkits at http://globalgenes.org/toolkits/ on the following subjects:
- SEARCHING FOR ANSWERS: CONTACTING BIOPHARMACEUTICAL COMPANIES EFFECTIVELY
- EXPLORING TREATMENT OPTIONS FOR RARE DISEASE: CORD BLOOD TRANSPLANTS
- TAKING CONTROL: GAINING INDEPENDENCE AS A YOUNG ADULT WITH A RARE DISEASE
- ACCESS TO UNAPPROVED MEDICINE: IS THIS AN OPTION FOR ME? (USA)
- GENETIC TESTING: IS THIS MY PATH TO A DIAGNOSIS?
- BECOMING AN EMPOWERED PATIENT: A TOOLKIT FOR THE UNDIAGNOSED
- PARENTING A CHILD WITH LIFE-LIMITING ILLNESS
- BRINGING RARE DISEASE TO CAPITOL HILL: ADVOCATING FOR YOUR CAUSE
- 5 ESSENTIAL TIPS & TOOLS FOR EFFECTIVE FUNDRAISING
- SO YOU THINK YOU WANT TO START A NONPROFIT
- STARTING A NONPROFIT: THE FIRST STEPS
- COMING SOON: CARING FOR YOURSELF AS A CAREGIVER
- COMING SOON: UNDERSTANDING RARE DISEASE REGISTRIES
- COMING SOON: HOW TO RAISE AWARENESS FOR YOUR DISEASE
28 Argonaut, Suite 150
Aliso Viejo, CA 92656
T: 949-248-RARE (7273)
International Collaborative Gaucher Registry (ICGG)
The Gaucher Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Gaucher Disease, irrespective of treatment status. No experimental intervention is involved; patients in the Registry undergo clinical assessments and receive care as determined by the patient's treating physician. More than 4500 patients worldwide are enrolled.
The ICGG Gaucher Registry database is the largest ever assembled for Gaucher Disease. About 20% of the enrolled patients are as yet untreated and constitute a valuable resource for understanding the natural course in different Gaucher Disease phenotypes. The Gaucher Registry has provided the data for many published peer-reviewed scientific publications.
Benefits of the Gaucher Registry
In addition to helping physicians better understand Gaucher disease, the Registry can also benefit you. For instance, it can help you and your physician monitor your disease, whether or not you are currently on treatment. When you are enrolled in the Registry, your physician can produce a Patient Case Report every time you have an appointment. This report uses charts, graphs, and text to show how you are progressing on important measures, including: Your bones, blood, liver and spleen and your quality of life. The report contains an overview of your health status as it relates to Gaucher disease. Your physician can review it with you to give you a picture of how your health progresses over time.
An alliance of individuals and organizations working together to prevent Jewish Genetic Diseases through education, awareness and testing.
The Jewish Genetic Disease Consortium (JGDC) increases awareness about Jewish genetic diseases (JGDs) and encourages timely and appropriate genetic screening for all persons of Jewish heritage.
The JGDC is comprised of an alliance of not-for-profit organizations sharing a common goal of combating Jewish genetic diseases. While each JGDC member organization has its own individual mission, the JGDC unites these organizations so that we may jointly strengthen public education and awareness and urge appropriate genetic screening for all persons of Jewish heritage, whether Ashkenazi, Mizrahi or Sephardic.
Through its Medical Grand Rounds Program, Clergy Education Program, and Jewish Community Program, the JGDC educates physicians, rabbis and Jews of all backgrounds about JGDs, to increase genetic screening rates and understanding of the reproductive options available to decrease the incidence of Jewish genetic diseases and lead to healthier Jewish families.
Jewish Genetic Disease Consortium
450 West End Avenue
New York, NY 10024
Lysosomal Storage Disease Clinical Care Network
Finding a doctor experienced in the lysosomal storage disorders is often a challenge for patients. A doctor to guide care and provide a place to receive infusions is what everyone deserves. That access is critical to the best outcomes in the LSDs.
Dr. John Barranger was acutely aware of the needs of many patients related to diagnosis, monitoring, participation in the Registry, and a place to get infusions. Recognizing these unmet needs, he has decided to focus his energy on providing expert care for LSD patients. Through a new approach called the Lysosomal Storage Disease Clinical Care Network, he seeks to provide diagnostic and treatment services to patients in a site as close to their home as possible. At present, he is determining where his clinical sites will be most useful for the LSD community.
Dr. Barranger was the specialized doctor for the disease and responsible for the patient’s case including their examination, collection of results, and advice directly to each patient in the office closest to their home. Availability is key to the sense of being well cared for. Access will be provided 24/7.
Commitment to the development of the knowledge of LSDs is a serious responsibility, which he took as an obligation. Participation in the Registry for each disorder will contribute important knowledge on the disease and its response to treatment. In the LSDCCN sites, contribution of data to Registry will be done and the outcomes of Registry studies shared with patients.
In order to decide where to locate LSDCCN clinics to best serve the community, please contact the LSCCN clinic at 412-734-4672 or email them at firstname.lastname@example.org to let them know where you are and what services you need.
LSDCCN Business Manager
Lysosomal Storage Disease Network (LSD)
The Lysosomal Disease Network is a research consortium of scientists, laboratories, healthcare professionals and clinics working as networked centers of excellence to improve basic knowledge and understanding of lysosomal disorders, improve diagnosis, and advance therapeutic options for individuals affected by these disorders.
My Interactive Health Record
My Interactive Health Record (MyIHR) is a website where you can compile your own health and medical information. You log in and enter contact information, conditions, prescriptions, emergency contacts, etc. Then, you can get the USER name and PIN engraved on your medical ID or just written on a wallet card. Emergency personnel then visit the website or call the phone number to view the information. Only you can change information, but others can view it. https://www.myihr.com
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. 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. 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.
National Gaucher Foundation Gaucher Network Registry (GNR)
The National Gaucher Foundation, Inc.(NGF), a nonprofit established in 1984, recently created an excellent environment for Gaucher patients to enter their own data as it relates to Gaucher disease. Since its founding, the GNR is one of many programs that the NGF has put forward for the benefit of those with Gaucher disease.
The NGF Gaucher Network Registry, the first of its kind, is a secure patient-centered platform that enables individuals to enter their own Gaucher disease data while working at their own pace. Unlike other registries, the GNR allows people to view and utilize their data.
Patients with Gaucher disease are invited to enroll in the GNR to begin adding their data at their own pace. We encourage your feedback to the NGF with comments and questions to help make your experience even better.
Your encrypted data is not only of great value to you, the patient, but to research, families and the children who inherit Gaucher disease. The information you enter has value far more reaching than today. You can begin helping to change the future by registering to become part of the NGF Gaucher Network Registry at https://www.gaucherdisease.org/gaucher-network-registry.php.
For assistance contact Sharon Adams at email@example.com or toll free 800-504-3189; Local 404-797-2797.
National Institutes of Health
NIH is the nation's medical research agency – making important medical discoveries that improve health and save lives. Find health information with the A to Z index of NIH health resources, clinical trials, research, MedlinePlus and health hotlines. Find additional information on grants and funding opportunities, news and events, training & scientific resources.
National Organization for Rare Diseases (NORD)
The National Organization for Rare Disorders (NORD), a 501(c)3 organization, is a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.
A rare or "orphan" disease affects fewer than 200,000 people in the United States. There are more than 6,000 rare disorders that, taken together, affect approximately 25 million Americans. For almost twenty years, NORD has served as the primary non-governmental clearinghouse for information on rare disorders. NORD also provides referrals support groups and other sources of assistance.
NORD is not a government agency. It is a non-profit, voluntary health agency that exists to serve rare-disease patients and their families. Our primary sources of funding are contributions, membership fees, and revenues from the sale of our products, such as our books and Rare Disease Database reports. Most of the money donated to NORD goes directly to programs and services. Copies of our annual report are available upon request.
NORD was established in 1983 by patients and families who worked together to get the Orphan Drug Act passed. This legislation provides financial incentives to encourage development of new treatments for rare diseases. NORD provides information about diseases, referrals to patient organizations, research grants and fellowships, advocacy for the rare-disease community, and Medication Assistance Programs that help needy patients obtain certain drugs they could not otherwise afford.
ABOUT NEEDYMEDS, INC.
NeedyMeds is a 501(c)(3) non-profit information resource devoted to helping people in need find assistance programs to help them afford their medications and costs related to health care. Founded in 1997, NeedyMeds' mission is to be the best source of accurate and comprehensive information on programs that help people facing problems paying for medications and health care. The website (http://www.needymeds.org) is visited by approximately 17,000 people each workday. NeedyMeds' information is always free, easy to access, and updated regularly. Unlike similar sites, NeedyMeds requires no registration and gathers no identifiable information on site visitors. In 2009, they launched the NeedyMeds Drug Discount Card, a free card saving uninsured up to 80% on prescription costs. For more information, contact: firstname.lastname@example.org.
NeedyMeds recently announced that it has been honored with a prestigious 2014 Top-Rated Award by GreatNonprofits, the leading provider of user reviews about nonprofit organizations.
NIH National Center for Advancing Transitional Sciences (NCATS)
Rare Diseases Resources
A collection of resources on topics of interest to the rare disease community, including rare disease social networks, online medical reference Web sites, rare disease events, and more.
Office of Rare Diseases Research
National Center for Advancing Translational Sciences (NCATS)
National Institutes of Health
6701 Democracy Boulevard , Suite 1001, MSC 4874 , Bethesda, MD 20892
(301) 402-4336 (voice) , (301) 480-9655 (fax) , Email: email@example.com
One Call Alert
One Call Alert offers medical monitoring systems. We have three: two in-home units that plug into the wall and have a Personal Help Button that you wear. If you fall or need help, you press the button and an operator talks through the base station to assess the situation. The operator either calls 911 or one of the emergency contacts that you list when you sign up for the service. http://www.onecallmedicalalert.com/
ResCube is the mobile system that goes wherever you go. It is just one small two-way device that you press the button to speak to an operator. It works on the T-Mobile 2G network, so anywhere there’s coverage with that, ResCube will work. http://www.onecallmedicalalert.com/rescube/
Your in-home healthcare company.
To transition from a health care facility to home or to manage a health condition, Orsini provides a unique combination of professional services, clinical teams, medical products, and a full-service pharmacy. For complex medical conditions as well as routine health needs, we deliver complete solutions with one-call simplicity- to improve the quality of care and enhance the quality of life. We deliver the guidance, confidence and expertise that is essential for successful outcomes. Our patient-focused approach is guided by our mission to serve with compassion, equality, excellence, and partnership.
Customer Service / Patient Care
Synera Patch/Galen US Incorporated (Prevents needle stick pain)
On June 3, 2014 – Galen US Incorporated announced that the U.S. Food and Drug Administration (FDA) recently approved a labeling change that allows SYNERA® (lidocaine and tetracaine) topical patch to be used at home. SYNERA® is a technological advance that can help prevent needle stick pain associated with superficial IVs and superficial dermatological procedures; it combines two commonly used numbing medications (lidocaine and tetracaine) with warming technology in a simple-to-use peel-and-stick patch.
About Synera® (lidocaine and tetracaine) Topical Patch
SYNERA® is a prescription patch that contains a mixture of lidocaine, tetracaine, and a gentle warming
technology that helps prevent pain associated with superficial venous access and superficial
dermatological procedures. When applied to intact skin, it helps prevent needle stick pain within 20 to
30 minutes. SYNERA® is approved for use in adults and children as young as three years old.
Request a free trial of Synera Topical Patches. Complete the patient information on the attached form and bring it to your healthcare professional.
Victor Center for Jewish Genetic Diseases
The Victor Center for Jewish Genetic Diseases at Albert Einstein Medical Center in Philadelphia raises awareness of Jewish genetic diseases and provides affordable genetic counseling and screening for healthy individuals at risk of being carriers. The Victor Center works with the Jewish community to provide educational programs and college campus outreach and screening.
For more information, please visit www.victorcenters.org, or contact Shoshana Rosen, Outreach Coordinator, at 215-456-8722.
The Kakkis EveryLife Foundation
Accelerating treatment for rare diseases
The Kakkis EveryLife Foundation is dedicated to improving the diagnosis and treatment of 6,000+ very rare disorders that affect millions of patients.
National Human Genome Research Institute
The National Center for Human Genome Research (NCHGR)was developed in collaboration with the United States Department of Energy and begun in 1990 to map the human genome. In 1993, NCHGR expanded its role on the NIH campus by establishing the Division of Intramural Research to apply genome technologies to the study of specific diseases. In 1996, the Center for Inherited Disease Research (CIDR) was also established (co-funded by eight NIH institutes and centers) to study the genetic components of complex disorders.
National Library of Medicine
The National Library of Medicine (NLM) has the world’s largest biomedical library, NLM maintains and makes available a vast print collection and produces electronic information resources on a wide range of topics that are searched billions of times each year by millions of people around the globe. It also supports and conducts research, development, and training in biomedical informatics and health information technology. In addition, the Library coordinates a 6,000-member National Network of Libraries of Medicine that promotes and provides access to health information in communities across the United States.
National Society of Genetic Counselors Search
National Society of Genetic Counselors, Inc. Search - ResourceLink has been developed to assist consumers in locating genetic counseling services and for students curious about the profession. Genetic Counselors can be searched by State, City, Counselor's Name, Institution or Areas of Practice or Specialization.
For 50 years, Project HOPE (Health Opportunities for People Everywhere) has been fulfilling a promise of better health to people around the world, especially children. Project HOPE has:
- Provided care and health education in more than 100 countries.
- Distributed nearly $2 billion of lifesaving medicines and medical equipment.
- Trained more than two million health care professionals.
The URL is http://www.projecthope.org
Social Security and Disability Resource Center
Many individuals will have the need to file for Social Security Disability benefits. The Social Security and Disability Resource Center website (www.ssdrc.com) provides information on the federal government's two disability benefit programs, title II social security disability benefits and title 16 SSI disability benefits. Covered topics include FAQs, disability applications, denials on claims, the filing of appeals, and how the disability claim evaluation process works.
Here is a link to the site: http://www.ssdrc.com/