Recipients

2017 PAL Awards Grant Recipients

Congratulations to the recipients of the 2017 Patient Advocacy Leadership (PAL) Awards. The global PAL Awards program supports projects by non-profit organizations that serve patients living with lysosomal storage disorders (LSDs), a group of rare, inherited disorders that can cause progressive and debilitating health problems.

In the eight years since the program was started, Sanofi Genzyme has awarded close to $810,000.00 to support 52 unique projects proposed by organizations in 28 different countries across the world. As an independent voice in the lysosomal storage disease community, patient organizations play a vital role in providing leadership, resources and access to care and support for patients and their families around the world. Sanofi Genzyme believes supporting their work is critical to optimizing patient care and meeting the ever-growing needs of the LSD community.

In 2017, 36 patient organizations from across the globe submitted proposals for new collaborative and creative activities to support the LSD patient community. Proposals were received from organizations in 24 countries, across a variety of rare disease groups and communities. Programs from six patient organizations were then selected by an Independent External Review Committee. This year’s award recipients come from Ukraine, the United Kingdom, the United States, Romania, France, and New Zealand.

Each proposal represents a unique approach to meeting the needs of the LSD community. Organizations are eager to empower patients, raise the awareness level about LSDs amongst the public, and study trends in rare diseases.

Rare Diseases of Ukraine

Ukraine

“Raising awareness and orphan patients’ advocacy in the regions of Ukraine”

With their grant, Rare Diseases of Ukraine hopes to address unmet needs for adult rare patients. Since many health care providers in the country do not offer care for rare disease patients past the age of 18, their project will focus on advocacy trainings, and creating regional groups of experts - lawyers, doctors, nutritionists - to support these 18+ disease patients. As the project progresses, they plan on publishing information about the rights of adult rare disease patients, and hosting an awareness photo exhibit.

Romanian National Alliance for Rare Diseases

Romania

"Understanding Rare Challenges (URC) in Romania"

The Romanian National Alliance for Rare Diseases project will be an awareness campaign for the public about the specific needs of people living with rare diseases. The group has proposed several activities, including helping Pompe patients form a patient organization, launching a Pompe awareness campaign, organizing a marathon, and sharing patient stories through radio programming and literature. The group plans to share the project outcomes through an existing training course for journalists aimed at improving knowledge of rare disease patients.

Hermansky-Pudlak Syndrome Network

United States

"Individual Research Plan Project"

This organization is proposing an effort to educate patients and families on how to participate in scientific research. Through a steering committee they plan to develop an educational curriculum about informed consent, placebo trials, biospecimen collection, and donation of organs and tissues for research. The project will generate personalized plans for rare patients about how they can participate in scientific research.

Mucopolysaccharide & Related Diseases Society Aust. Ltd.

United Kingdom

"The 'Red Book' research survey for MPS and related disorders"

Using information collected in the Red Book (the UK’s national standard record of a child's health and development) this group will conduct a survey across all patients 25 and under with mucopolysaccharidoses and related disorders, to identify common patterns and trends. The organization hopes that the data might reveal early indicators of the disease or commonalities among patients. Those trends would then be shared with doctors, clinicians, and families, hopefully leading to earlier diagnosis and better outcomes.

Association de Patient de la Maladie de Fabry

France

"FAME : (Fabry: points of view by women)"

The funding from this PAL Award will facilitate a 2-day event for 10 women with Fabry. The event will include a physician-led educational workshop, individual patient interviews with psychologists, and a writing workshop. Post-event, a booklet for patients and HCPs will be published, including information about how women experience Fabry, articles written by the participating psychologists, and patient testimonials. The booklet will be shared in-person and online with psychologists, patients, and physicians.

New Zealand Pompe Network

New Zealand

"New Zealand Pompe Network Inaugural Conference 2018"

The New Zealand Pompe Network will use their PAL Award to fund the first-ever country-wide, multi-organization Pompe conference. Experts from countries with successful care and treatment for Pompe patients will be invited to share information, scientific knowledge, and best practices with New Zealand physicians and patients. Pompe patients will be surveyed in advance of the conference to determine what topics are of the most interest to the community.

2016 PAL Awards Grant Recipients

Vietnam Rare Disease Network (VRDN) and Vietnam National Hospital of Pediatrics (NHP)

Vietnam

“Hear Our Stories”

Educating the general public on the impact a rare disease has on the lives of patients, their families and caregivers has been a very difficult task. Through a book that will incorporate 22 rare disease patient stories, the Vietnam Rare Disease Network and the Vietnam National Hospital of Pediatrics will produce the first rare disease awareness book that will double as a reference manual for healthcare students. Through disease overview information, patient stories and patient photos the book aims to reduce stigma around lysosomal storage disorders and increase knowledge about rare diseases.

Polish Association of Families Affected by Gaucher Disease, and Polish Association of Families Affected by Fabry Disease, and The Polish Pompe Association

Poland | www.fabry.org.pl

“Storage”

Patients and their families encounter many challenges when they are first diagnosed with a lysosomal storage disorder (LSD), including limited information about their disease and the inability to find others that share their experience of living with a rare disease. The Polish Association of Families Affected by Gaucher Disease, the Polish Association of Families Affected by Fabry Disease and The Polish Pompe Association are joining forces to create an online platform called “Storage” that provides comprehensive facts about lysosomal storage disorders and will host an interactive forum for patients to connect with one another. As the project progresses, the platform will be used to gather and assess the needs of the LSD community to further inform Poland’s patient organizations’ programs and initiatives.

Association For Glycogen Storage Disease and The Royal College of General Practitioners (RCGP)

United Kingdom | www.agsdus.org

“eLearning Module for General Practitioners”

Early diagnosis is extremely difficult but critical for rare disease patients, including infants with Pompe who are at risk for rapid clinical decline. To increase the likelihood of early diagnosis the Association for Glycogen Storage Disease, The Royal College of General Practitioners and medical teams working at the eight NHS Highly Specialized Services for Lysosomal Storage Disease, are collaborating to educate general practitioners on disease symptoms for Pompe and other lysosomal storage disorders through eLearning modules. With direction from the collaborators, these modules will feature a general practitioner presenting the information in a manner and level that is accessible to all general practitioners. The modules will be hosted on the website of the Royal College of General Practitioners and count towards general practitioners’ required professional development hours.

Croatian Alliance for Rare Diseases and National Organization for Rare Diseases Serbia

Croatia | www.rijetke-bolesti.hr

“Little Big Signs of Diagnosis”

A rare disease patient's journey to the correct diagnosis is often long, filled with misdiagnoses and can come after irreversible damage has occurred. In order to reduce the length of diagnosis the Croatian Alliance for Rare Diseases and the National Organization for Rare Disease of Serbia have teamed up for the “Little Big Signs of Diagnosis” project. Through this project the groups will create an internal online platform for students of medicine, pharmaceutics, physiotherapy and other medical university courses to educate them on lysosomal storage disorders (LSDs). The platform will display videos of patients or their family members describing the first and most important symptoms of their LSDs, in an effort to raise awareness among medical students and better prepare them to diagnosis LSDs correctly in the future.

The Associação dos Familiares, Amigos e Portadores de Doenças Graves (AFAG) and The Operação Conta Gotas [Piecemeal] Group

Brazil | www.afagbrasil.org.br

“Rare Diseases at the University”

Educating future healthcare professionals about rare diseases not only increases the likelihood of more and earlier diagnoses for patients, but provides the opportunity to raise students' curiosity in specializing in the rare disease field. The Associação dos Familiares, Amigos e Portadores de Doenças Graves (AFAG) is partnering with the Operação Conta Gotas group to train healthcare professionals in multi-disciplinary areas by providing lectures and classes on specific rare diseases as well as the humanization of services to patients. Each lesson is adapted to the level of the students and is continually evaluated and updated by rare disease specialists.

Rare Genomics Institute and Organization for Rare Disease India (ORDI)

The United States and India | www.raregenomics.org

“Rare Disease Patient Advocate Teaching Modules”

Diagnosing rare disease patients is still a significant issue in a patient’s quest to find care. Since the causative gene for many lysosomal storage disorders has been identified, genetic sequencing is an available tool for diagnosis. However, in order for genetic sequencing to reach its highest impact, the Patient Advocate Associates (PAA) who help patients understand and navigate pre- and post-genetic sequencing must be properly trained, and patients and their caregivers properly informed. The Rare Genomics Institute and Organization for Rare Disease India are collaborating with one another to create rare disease patient advocate teaching modules that will serve as an educational resource development for patient advocate associates, patients, caregivers, and physicians. These modules will provide quality, uniformed training in an effort to reach successful patient outcomes.

2015 PAL Awards Grant Recipients

Taiwan MPS Society

Taiwan MPS Society with College of Medicine of National Taiwan University, Taipei College of Medicine, Mackay College of Medicine, China Medical College, National Cheng Kung University College of Medicine, Kaohsiung College of Medicine and Tzu Chi College of Medicine

Taiwan | www.mpssociety.org.tw

“Mucopolysaccharidoses Medical Student Summer Camp”

Due to the rarity of Mucopolysaccharidoses, this disease is significantly less well-known than other diseases. The two-day camp program will provide medical students with an in-depth understanding of Mucopolysaccharidoses so that when they join the medical care system, they will be better able to recognize the disease, helping patients receive earlier diagnosis and treatment.

MPS España Association

MPS España Association and Vall d’Hebrón University Hospital

Spain | www.mpsesp.org

“Telerehabilitaion Program”

Physiotherapy and rehabilitation measures are important activities for MPS patients to enable mobility and increased independence. However, there are often logistical barriers to in-person therapy including the high cost of transportation and the time required. A telerehabilitation program, which consists of performing remote rehabilitation therapy based on a video game model without the face-to-face assistance of a healthcare professional, will give patients and caregivers more flexibility in managing care in an at home environment.

nternational Niemann-Pick Disease Alliance (INPDA), a global network of non-profit organizations supporting those affected by Niemann-Pick Diseases

International Niemann-Pick Disease Alliance (INPDA), a global network of non-profit organizations supporting those affected by Niemann-Pick Diseases

International/United Kingdom | www.inpda.org

“The NP Portal”

Niemann-Pick diseases are pan-global conditions, yet individuals experience diagnosis, clinical care and family support very differently. A Niemann-Pick information portal will help patient organizations around the world better support local families. The information it provides will be developed and maintained centrally, but accessible, downloadable and adaptable for local use as appropriate. The development of this shared resource will maximize limited resources, minimize duplication, promoting time- and cost-effective collaboration.

Receiving a 2014 PAL Award from Genzyme allowed us to implement the Pompe (Em)Power Pilot Program and the results have been inspiring. Some of the participants have taken an active role in their national organizations and in international activities as a result of the lessons learned during the Program. The future of international Pompe patient activities is brighter as a result of this Program, and it was made possible by the PAL Award.”
— Tiffany House, International Pompe Association

2014 PAL Awards Grant Recipients

Fabry Support and Information Group

Fabry Support and Information Group

United States | www.fabry.org

“LSDs Revealed”

Understanding the Basis of Lysosomal Storage Diseases: A video project designed to teach the underlying mechanism of LSDs in an understandable, entertaining format. The video will be designed in such way as to allow it to be adapted by different patient organizations to educate across disease areas and diverse geographies around the world.

The Croatian Alliance for Rare Diseases

Croatia

“Traveling LSD Photo Exhibit”

A photo exhibition of people living with LSDs in cooperation with rare disease organizations from Croatia, Serbia, Macedonia, and Bosnia and Herzegovina. This project will be the first regional cooperation on a specific group of diagnoses. The hope is to build awareness of LSDs throughout the region through photos of patients in their everyday lives, and to address the disparities that exist in terms of access to care.

The International Pompe Association

The International Pompe Association

The Netherlands | www.worldpompe.org

“Pompe M Power”

The IPA Leaders of the Future Project: A mentoring program to empower young adults that are interested in becoming involved with international patient advocacy for Pompe disease. The program will involve face to face meetings, the creation of training materials and tool kits for future use.

The Cure & Action for Tay-Sachs (CATS) Foundation

The Cure & Action for Tay-Sachs (CATS) Foundation

The United Kingdom | www.cats-foundation.org

“The eAcademy for Tay-Sachs & Sandhoff”

An app for a smartphones and tablets designed for caregivers of individuals with Tay-Sachs or Sandhoff disease. Ideas for useful topics will be developed in collaboration with the community, but will likely include such topics as seizure management, feeding options, and other critical issues.

The Japan Fabry Disease Patient and Family Association

Japan

“YO * RI * SO * I Outreach Support Project”

The creation of an outreach/support team within the organization made up of Fabry patients and/or family members of patients. Counselors will be assigned regions and be responsible for reaching out to often isolated Fabry patients in their region who opt in to the program. Counselors will be available to them as a resource for any questions, including those addressing healthcare access, preventative care, and more.

Mucopolysaccharide & Related Diseases Society of Australia

Mucopolysaccharide & Related Diseases Society of Australia

Australia | www.mpssociety.org.au

“School Connection Project”

Through research, resource development, customized training and consultancy, this project will engage families and their schools to ensure students' sense of connection and belonging to their schools are increased. The project hopes to achieve a number of concrete goals, such as a decrease in the amount of bullying experienced, a better approach to managing schoolwork and expectations for students who are often absent, and a systematic approach to working with MPS students instead of an ad hoc approach.

Regional Association of Patients and Families with Fabry Disease

Brazil

“Living and Learning with Fabry”

A multi-pronged program to help Fabry patients around the country to have a unified voice in order to advocate for their community and influence the National Policy of Rare Diseases. This includes the creation of a scientific committee to support education, attendance at a patient advocacy conference, and the development of a newsletter for the community.

Peruvian Association of Patients with Lysosomal Storage Disorders

Peru

“Spread Knowledge of Rare Diseases in Peru – A 2.0 Initiative”

The project is in collaboration with the National Institute of Child Health (INSN) to create an app for tablets. The app will provide content from the recently completed “Atlas on Pediatric Dysmorphology.” Content for health professionals will be provided in an interactive and mobile manner, such as diagnostic assistance, case studies, patient and family testimonials, contacts at the INSN, and other features that will help to spread knowledge of rare diseases in Peru.

National Niemann-Pick Disease FoundationNational Niemann-Pick Disease Foundation

National Niemann-Pick Disease Foundation

Canada and the United States | www.nnpdf.org

“Bridging the GAP to the Future”

A two day training session for board members that will include topics such as best practices in governance, roles and responsibilities of effective boards, the board/staff partnership, and other critical topics. The ultimate goal of the training is to allow the board to be more effective at meeting the needs of family members and constituents as they move through clinical trials working towards appropriate treatments and therapies.

2013 PAL Awards Grant Recipients

Fundación de Pacientes Lisosomales de Chile (FELCH)

Fundación de Pacientes Lisosomales de Chile (FELCH)

Chile

“Healthcare Student Awareness Program”

Through this project, FELCH seeks to increase awareness of Lysosomal Storage Diseases in Chile through an education and outreach program among university students. This national educational campaign will inform and empower future healthcare professionals through seminars and materials distributed by patients and physicians knowledgeable about LSDs. By empowering the next generation of medical professionals, FELCH hopes to ultimately improve diagnosis and treatment of Pompe, Gaucher, MPS I, and Fabry diseases.

China Dolls Center for Rare Disorders

China | www.chinadolls.org.cn

“Our World: Rare and Real – Traveling Documentary Photography Exhibit”

The Our World Photography Project seeks to raise awareness of rare diseases through a traveling, nationwide photography exhibit featuring individuals living with Lysosomal Storage Disorders. Through this exhibit, China Dolls aims to increase understanding and awareness of the impact LSDs have on individual lives, and to foster policies that protect the basic rights of all individuals living with a rare disease to access medical treatment, education, and employment. The exhibit will tour major city centers including Beijing, Shanghai, Shenzhen, Guangzhou, and Xi’an and will include media outreach throughout the tour.

Gaucher Association Denmark on Behalf of a Collaboration of Six Danish Patient Associations

Denmark

“Together We Can Be Stronger” Family Conference

Six Danish patient organizations will cohost the first-ever family conference for patients and their families living with metabolic disorders in Denmark. Collectively, these associations focus on: Congenital Disorders of Glycosylation Syndrome, Fabry Disease, Gaucher Disease, MCAD Deficiency, Protein Degradation Defect Diseases, and Wilson Disease. In addition, the collaborative expects to involve other families dealing with rare metabolic disorders that don’t have a patient organization to support their needs. Organizers hope to reduce the sense of isolation for families, engender a greater sense of community, and generate momentum for collective action in the future through this innovative conference.

Foundation for Patients with Fabry Disease

Hungary

“Fabry Diagnosis and Monitoring System” Diagnostic Standardization

Through this project, the Foundation for Patients with Fabry Disease seeks to improve access to medical treatment for patients by developing a Fabry Diagnosis and Monitoring System to be utilized throughout the country. Because physical examinations are conducted at many sites nationwide and physicians’ knowledge and experience with Fabry disease can vary widely, the project intends to create a clear, objective examination protocol that will ultimately improve treatment decisions by the government health care agency. After a comprehensive research and development phase, a pilot program will be launched and the project will culminate with a publication, with the ultimate goal of national adoption.

Philippine Society for Orphan Disorders (PSOD)

Philippine Society for Orphan Disorders (PSOD)

Philippines | www.psod.org.ph/

“I Can Be Like You” Animated Video

Through this PAL project, PSOD will expand its national rare disease awareness campaign through the creation of a first-ever animated film to be used in social media format. This film will be treated as a children’s story highlighting a little girl’s journey to obtain the correct diagnosis and the importance of getting the proper care once the diagnosis has been made. Using this animated format, PSOD will simplify complex medical terms to improve understanding and increase social sharing via the Internet. PSOD hopes to use the film to accelerate their broader awareness and advocacy campaigns to improve access to sustainable treatment for rare disease patients throughout the Philippines.

LSD Collaborative

LSD Collaborative

United Kingdom | www.facebook.com/UkLsdPatientOrganisationCollaborative

“If you hear hooves it may be a zebra……” Medical Student Empowerment Project

The UK LSD Collaborative – a collaborative of six rare disease patient organizations -- seeks to improve diagnosis and treatment of rare diseases in the U.K. by educating and empowering the next generation of health care providers. Together, the organizations of the UK LSD Collaborative represent the Batten, Gaucher, Fabry, MPS, Niemann-Pick, Pompe and Krabbe disease patient communities. Through their PAL project, the Collaborative will partner with 5th year medical students from the Barts London School of Medicine and Dentistry, as well as the student-created London Society for Rare Diseases to support the development of rare disease societies across the London Medical Schools. Other activities include the development of a website, toolkit, and speakers bureau.

Batten Disease Support and Research Association (BDSRA)

Batten Disease Support and Research Association (BDSRA)

United States | www.bdsra.org/

“Multicultural Clinical Practice Guidelines for Batten Disease” Guideline Development

The BDSRA seeks to improve the diagnostic efficacy and disease management for Batten disease patients by producing and publishing clinical practice guidelines for medical professionals. These guidelines would utilize existing clinical experience and expertise of the Batten Disease Centers of Excellence in the United States, Serbia, and Argentina. Ultimately, these guidelines will be available in multiple languages to support global care. The project will provide physicians with clinical guidelines to inform medical care decisions, advance linkages between LSD Centers of Excellence and community physicians and pediatricians, and provide a multicultural template for LSD clinical practice guidelines derived from known experts in Batten disease.

National Tay-Sachs and Allied Diseases Association (NTSAD)

National Tay-Sachs and Allied Diseases Association (NTSAD)

United States | www.ntsad.org/

“Rare Siblings Project” Video Series

This project seeks to create a web based video series designed to support siblings of children affected with life limiting illness, as well as those living with complex and chronic conditions. Specifically, the project will look to support children between the ages of 6 and 18 years of age. Intended outcomes of this project include reducing feelings of isolation often experienced by siblings, provide siblings with a forum for self-expression, provide parents with insights into the sibling perspective, and develop a community of sibling support. Videos will ultimately be promoted using social media channels such as You Tube and Facebook and will be accessible by the broader rare disease community.

The Patient Advocacy Leadership Award is a rare opportunity for organizations to access funds that help them think about the message and the content that they want to get out there that is particular to them, that they think will make a difference in the lives of other."
— Blyth Lord from the National Tay-Sachs and Allied Diseases Association

Expression of Hope

expressionofhope

A Global Program of Awareness and Inspiration Featuring Works of Art by the Lysosomal Storage Disorder Community

Learn more

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