2019 RARE Patient Impact Grant Recipients
The Patient Registry Outreach Program (PROP)
This program will address the barriers associated with the FSR Patient Registry and has the potential to be utilized by a host of patient advocacy organizations, academic centers, and other stakeholders wishing to ensure inclusion into patient registry projects. PROP will help build registry recruitment in under-served groups, addressing cultural, socioeconomic, and geographic barriers common to all spaces.
Community Empowerment Through Resiliency Training Program
The International Fibrodysplasia Ossificans Progressiva Association’s Community Empowerment Through Resiliency Training Program will provide community leaders in the U.S. and internationally the opportunity to become trained facilitators in resiliency workshops. The IFOPA staff will train them as facilitators after completing a train-the-trainer course.
Lunch with LU
This project is a 24 short cooking class series that will be filmed and distributed using the Instagram platform and include visual and written instructions for simple and healthy recipes that are appropriate for most patients living with lipodystrophy of all ages. Six videos will be filmed at a time on a quarterly basis and will be released on Instagram every two weeks.
Go Low Pro
Go Low Pro is a smartphone app that locates restaurants and stores that are compatible with a low-protein diet. When life presents the seemingly impossible choice of staying with the crowd and straying from the diet or missing out on the spontaneity of eating out in order to eat healthily, Go Low Pro can help. This app aims to make diet-friendly stores and restaurants easy to find. With an international reach and compatibility with all metabolic disorders requiring a low-protein diet (not just PKU), Go Low Pro will be an important tool for supporting the autonomy and flexibility of teenagers and adults who are managing their own diets.
Expanding Our Reach: CEU Accreditation for Medical Professionals at the 2019 GFPD Family and Scientific Conference
Expanding Our Reach CEU sessions will be conducted at the GFPD 2019 Family and Scientific Conference for physicians, physical, occupational and speech therapists as well as deafblindness professionals and educators. Participants will attend three CEU sessions at this conference which will be structured to include and educate ancillary medical professionals in practical treatment for patients impacted by peroxisomal disorders.
The Turner Syndrome Hearing Project
There is very little research on hearing and Turner Syndrome (TS), but a high percentage of adult women who struggle with TS and sensorineural hearing loss, often beginning in their 20s and getting worse as they grow older. The Turner Syndrome Hearing Project will create infrastructure and develop a partnership to provide adults with TS affordable, refurbished hearing aids and collect data to advance hearing-loss related research.
Understanding Self-Care and Enhancing Family Dynamics Program
The Understanding Self-Care and Enhancing Family Dynamics program will strengthen families and caregiver units by providing family coaching, communication and self-care workshops to families at no cost.
Family Care Bag Program
The goal of CCF’s Family Care Bag program is to support families whose children are hospitalized due to treatment for cardiomyopathy. A diagnosis of cardiomyopathy and subsequent hospitalizations can be stressful, isolating, and confusing for families. The Family Care Bag program will help hospitalized families feel supported and empowered with information about the disease.
Improved Health Through the Optimization of CMD Care Management Publications and Mobile App
Our project’s focus is the creation, publication and dissemination of three distinct, comprehensive, indispensable guides for affected individuals, their families and caregivers, and for physicians who are not familiar with congenital muscular dystrophy. The guides will be available online and in print, and—for the convenience of affected individuals and caregivers—will also be made available via a free, easily downloadable, indexed and searchable mobile application.
All Ears: Conference and Meeting Hearing Assistance for the FD/MAS Community
The “All Ears” project will allow the Fibrous Dysplasia Foundation to better support people with FD/MAS with moderate hearing impairment by acquiring reusable public address hearing assistance equipment. This equipment will be available for the Foundation’s 2019 Patient and Family Conference, as well as similar future meetings that bring FD/MAS community members together. This grant will also fund the transcription of all 2019 Patient and Family Conference videos to enable the creation of closed captions for conference videos which will be accessible to people of all hearing abilities, free of charge, on the Foundation’s YouTube page
KdVS Awareness Video
The KdVS Foundation will create two videos to help spread awareness and education. Filming will take place at the 2019 KdVS Patient Advocacy Summit in Park City, Utah in June. This is a rare opportunity to gather KdVS families and professional experts, and an excellent occasion to share the latest research, information, interviews and live interactions. An introductory/educational video that presents the basics of KdVS can be used to introduce and educate professionals and newly diagnosed families. An awareness video for social media featuring interviews from parents and KdVS patients will also be produced.
The Importance of Friendships & Belonging: Teen & Young Adult Only Excursions
The Brain Recovery Project: Childhood Epilepsy Surgery Foundation will host its Biennial Pediatric Epilepsy Surgery Family and Professional Conference in Cleveland, Ohio. Chaperoned by professional caregivers, the teen and young adult excursions will be an entirely new offering at the Conference. The planned excursions, all within one mile from the conference hotel, will include trips to The Rock N’ Roll Hall of Fame, The Great Lakes Science Center and The Corner Alley bowling alley. These organized excursions will provide a built-in opportunity for teens and young adults to meet in a fun environment, not centered on their disabilities.
ALGSA Symposium and Scientific Meeting
The ALGSA Symposium and Scientific Meeting is the largest gathering of ALGS families, researchers and industry professionals in the world. ALGSA provides education, resources and a community to those living with ALGS. The theme of this year’s Symposium is “Connecting the Pieces.” ALGS is a rare disease with a multitude of unknowns including liver problems, heart abnormalities, ocular (eye) abnormalities, skeletal issues or any combination of these, each unique in their own way.
2019 LFSA Youth Workshop
The 2019 LFSA Youth Workshop will bring together 50 teens living with LFS, ages 14 to 18, to educate them about their LFS diagnosis and provide them with emotional, medical and educational support as they take responsibility of their health care. This two-day international workshop will emphasize the importance of taking a proactive approach to your healthcare, being your own advocate and listening to your body for warning signs.
6th Biennial MTM-CNM Family Conference
In July 2019, MTM-CNM Family Connection will celebrate 10 years of building connections, as the organization hosts the 6th Biennial MTM-CNM Family Conference in St. Louis, MO. The conferences provide unique opportunities to empower families through networking with others who experience a similar journey and direct collaboration with lead researchers and medical professionals in the rare disease community. MTM-CNM Family Connection will be able to offer support to several families or individuals who might otherwise be unable to afford the expense of traveling a long distance to the conference.