Recipients

2016 PAL Awards Grant Recipients

Patient organizations from around the world responded to the 6th Annual PAL Awards program in 2016, submitting proposals for new collaborative and creative activities to support the LSD patient community. Out of 27 applicants, six patient organizations were selected by an Independent External Review Committee.

Proposals were received from patient organizations in 15 countries, across a variety of rare disease groups and disease communities. The successful applicants came from Vietnam, Poland, United Kingdom, Croatia, Brazil, and the United States/India.

The Independent External Review Committee spent hours carefully reviewing each application and examining the merits of each project. Ideas for new collaborative and innovative projects ranged from developing online platforms to educate medical students on the symptoms of lysosomal storage disorders to developing eLearning modules to train and inform patient advocate affiliates and patients about genetic sequencing. Each proposal was unique and sought to meet the needs of the LSD community.

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

Vietnam

“Hear Our Stories”

Increasing knowledge and reducing stigma around rare diseases are two big challenges for advocacy organizations. To address both issues, the Vietnam Rare Disease Network, in collaboration with the Vietnam National Hospital of Pediatrics, is publishing a book to provide disease information about specific LSDs, as well as share the stories of 22 rare disease patients and their families. It will be the first rare disease awareness book in Vietnam and can also serve as a reference manual for healthcare students. 

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

Poland | www.fabry.org.pl

“Storage”

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 education about lysosomal storage disorders and 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.

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

United Kingdom | www.agsd.org.uk

“eLearning Module for General Practitioners”

For many rare disease patients, their diagnostic odysseys often begin with a general practitioner who does not recognize diagnostic symptoms or refer them to the appropriate specialist. The Association for Glycogen Storage Disease is working with the Royal College of General Practitioners to educate general practitioners in the UK on the early signs and symptoms of Pompe disease and other glycogen storage diseases. They are developing concise visual e-learning modules to be featured on the website of the Royal College of General Practitioners, an organization with more than 52,000 general practitioner members.

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 diagnostic journey is often long, complex and filled with misdiagnoses. Aimed at reducing the length of time to diagnosis, the Croatian Alliance for Rare Diseases and the National Organization for Rare Disease of Serbia are collaborating on a project called "Little Big Signs of Diagnosis," an educational online platform for medical students. The platform will include videos of patients and their caregivers describing the first and most important symptoms of their disease, in an effort to raise awareness among medical students and better prepare them to correctly diagnosis LSDs in the future.

Associação Catarinense de Pacientes e Amigos de Gaucher and Associação Gaúcha de Fabry

Brazil | www.acpaggaucher.org

“Disease Awareness and Education Through Health Centers”

Many health professionals are not specifically trained on how to care for patients living with rare and chronic health issues. To address this knowledge gap in Brazil, the Associação Catarinense de Pacientes e Amigos de Gaucher and the Associação Gaúcha de Fabry are collaborating to provide informational materials and trainings at community health centers, targeting doctors, nurses, receptionists, psychologists, and social workers. The trainings aim to help healthcare professionals identify rare disease patients early in their visit to a health center, so they can offer personalized care that addresses the particular needs of their disease and reduces the risk of inappropriate procedures.

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

The United States and India | www.raregenomics.org

“Rare Disease Patient Advocate Teaching Modules”

The genes that cause many LSDs have been identified, often making genetic sequencing a useful diagnostic tool. However, in order for genetic sequencing to be performed, patient advocate associates, who help patients navigate the process, must be properly trained, and patients and their caregivers must be properly informed. In an effort to strengthen and optimize genetic sequencing support functions, the Rare Genomics Institute in the United States and the Organization for Rare Disease India are working together to create training modules and educational resources for patient advocate associates, patients, caregivers and physicians.

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

2012 PAL Awards Grant Recipients

Fundación de Pacientes Lisosomales de Chile (FELCH)

Chile

“Power to the Patients: LSD Patient Education Campaign”

This PAL project comprises an education campaign designed to improve disease knowledge and management by the patient and medical communities. A key component of the program involves workshops led by physicians and government officials on topics such as discrimination, patient’s rights, quality of care, the role of patient organizations and patient advocacy.

Association Pour la Maladie de Fabry (APMF)

France | www.apmf-fabry.org

“Fabry Families: No Patients Forgotten”

This PAL project will support an initiative to improve the diagnosis of Fabry disease and family screening programs through a multi-media patient education and training program. APMF will also create educational materials about the inheritance pattern of Fabry and the difficult emotions that come with informing family members who may be at risk. The project will include workshops led by psychologists and patient testimonial videos to help patients and their families cope with the diagnosis of this genetic disease.

The National Forum for the Treatment of Rare Diseases and the Polish Association for Families Affected by Fabry

The National Forum for the Treatment of Rare Diseases and the Polish Association for Families Affected by Fabry

Poland | www.dzienchorobrzadkich.pl

“Where is Fabry?” Campaign

This PAL funded project seeks to improve public awareness and understanding of Fabry disease through a unique campaign for Warsaw city residents. Using Facebook and other tools such as large banners posted throughout Warsaw, they will encourage residents to "find" Fabry in their city. Clues will lead residents to an igloo in the city center, which will serve to highlight one particular symptom of the disease – difficulty in withstanding heat. A press conference will be held near the igloo once Fabry is "found."

Niemann-Pick Diesease Group UK

Niemann-Pick Diesease Group UK (NPDG-UK)

United Kingdom | www.niemannpick.org.uk

“Teenagers and Young Adults with Niemann-Pick Disease: Facing the Future Together”

This PAL funded project seeks to empower and improve the lives of teenagers and young adults with Niemann Pick disease through education, information, and community. Beginning with the first ever meeting of teenagers and young adults affected by Niemann-Pick, PAL funds will support a dedicated on-line forum to encourage on-going peer-to-peer communication. An international exchange program will enable one youth representative to attend the next meeting of the International Niemann Pick Disease Alliance.

UK Gauchers Association

UK Gauchers Association

United Kingdom | www.gaucher.org.uk

“Empowering Young Type III GD Patients to Shape the Future”

This PAL project will support a pilot two-year education program to educate and empower adolescent girls with Gaucher Type III to become advocates and future leaders of the Gaucher community. It will include education and training on topics such as research, the role of patient organizations, public speaking, and advocacy. Participants will gain the skills necessary to become ambassadors of the Gaucher community, ultimately serving as UK Gauchers Association board members.

Hong Kong MPS & Rare Genetic Diseases Mutual Group (HKMPS)

Hong Kong MPS & Rare Genetic Diseases Mutual Group (HKMPS)

Hong Kong

“Knowing HKMPS with Comics”

This PAL funded project will help support an art competition for university and high school students who will create comic books based on the real lives of MPS patients in the region. As a popular medium among Hong Kong readers, the use of comics will increase awareness of the disease among new populations who have little or no exposure to rare disorders like MPS. The winners of the competition will have their works published in booklets, which will then be available for sale.

The Macedonia Life with Challenges

Macedonia

“Don’t Cry, Fight for Your Rights”

This PAL project will support a public education campaign in the Macedonia language, to make information about rare diseases accessible to local Macedonian physicians, government officials, and the media. Prior to their PAL Award, no information about rare diseases existed in the local language. The campaign will include translations of educational materials and the development of a magazine/newsletter. The campaign will also include a press conference and other media outreach activities to increase support for the rights of people with rare diseases among policy makers.

The Genetic LSD Foundation

The Genetic LSD Foundation

Thailand

“Establishment of LSD’s Patients Network in Thailand”

This PAL project seeks to strengthen the LSD community in Thailand through an outreach program focused on rural, underserved areas of the country. They will create 4 regional networks to help facilitate communication and education between patients, their physicians, and the Foundation. The Foundation will conduct their first-ever meeting in each region to introduce patients and physicians to the Foundation, to educate them about patient’s rights and to support continued communication and networking among all participants.

The Little Miss Hannah Foundation

The Little Miss Hannah Foundation

United States | www.littlemisshannah.com

“World Rare Disease Day 2013”

This PAL project seeks to educate and raise awareness among school children about rare diseases. Working in collaboration with the Global Genes project (R.A.R.E.) to recognize Rare Disease Day 2013, the Foundation will teach elementary school children in three Nevada schools about LSDs. The project also seeks to raise awareness among adults by providing students with take-home materials, as well as to promote compassion by enabling each child to write a postcard to the family of a child living with a lysosomal storage disorder.

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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