Recipients

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.

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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