Earlier this year, Global Genes awarded the 2020 General Advocacy RARE Patient Impact Grant in three categories: RARE Innovation, RARE Support and RARE Capacity Building. Congratulations to the 2020 General Advocacy RARE Patient Impact Grant awardees!
The mission of the Angelman Syndrome Foundation (ASF) is to advance the awareness and treatment of Angelman syndrome through education and information, research, and support for individuals with Angelman syndrome, their families and other concerned parties. With the support of the RARE Patient Impact Grant, this project will work to standardize clinical data collected in ASF clinics and Dup[15q clinics for use as we move into clinical trials. The database will focus primarily on synergizing and streamlining the data collected through the ASF clinic network, with flexibility built in to accommodate additional data sources such as existing ASF enrollment, historical and new natural history studies, as well as other potential future collaborators.
Congenital Hyperinsulinism Centers of Excellence Program
Congenital Hyperinsulinism International (CHI International) is a leading nonprofit advocacy organization dedicated to improving the lives of people around the world living with congenital hyperinsulinism (HI), a life-threatening disorder that causes dangerously low blood sugar levels due to the over-production of insulin. CHI International supports patients and their families living with HI; advocates for timely diagnosis and improved standards of care; and funds and conducts research towards better treatments and a cure. The CHI International Centers of Excellence (CoE) Program will identify and acknowledge those institutions providing the highest quality of care and diagnostics for HI patients and their families, conducting cutting edge research for a better understanding of the disease leading to new treatments, and collaborating with others to share knowledge and expertise.
Where are they now? Check out this video recap from CHI International’s Rare Disease Day in 2020.
The Myositis Association’s Peer-Led Support Certified Training Program
The Myositis Association (TMA) is the leading international nonprofit organization committed to the global community of people living with myositis, their care partners, family members, and the medical community. TMA provides patient education and support, advocacy, physician education, and research funding for myositis diseases. With the support from the RARE Patient Impact Grant, TMA will design a peer support certification training program so that all TMA support leaders feel confident as they take on the important task of helping others cope with a rare chronic and debilitating disease. TMA believes that a formal certification process serves several purposes, including legitimizing leaders among peers and invoking confidence in those seeking support.
Rare Disease Curriculum and Resource Development
Rare Disease Research and Support (RDRS) at Calvin University is committed to conducting research, training students, empowering individuals affected by rare disease, and building community among scientists, health care providers, students, and patients. Increasing our knowledge of rare diseases at the molecular, individual, and community level can improve outcomes and enhance patients’ lives. With funds provided by the RARE Patient Impact Grant, RDRS will develop and disseminate resources for rare disease awareness and education for K-5 students and pre-health college students. First, RDRS will develop a series of lesson plans to teach children about rare diseases in an age-appropriate, sensitive, and engaging manner. Each lesson plan will include complete teaching instructions, a materials list, Common Core educational standards, and assessment strategies. Backgrounders that provide additional information for teachers and parents will also be provided. Second, RDRS will develop rare disease materials for pre-health students that will be made available at the organization’s symposium and digitally.
Rare Mothers Resiliency Retreat & Online Training Program
Based in the Bay Area and operating globally, ANGEL AID CARES offers relief services to caregivers through sustainable health and wellness training, transformative retreats, and a globally connective mother-to-mother network. ANGEL AID CARES believes in uplifting the family by caring for the caregivers, particularly mothers who are often the primary caregiver. The Rare Mothers Resilience Program will help caregivers embrace change, learn how to connect and communicate with others more deeply, and adopt a set of daily and weekly self-care practices designed to improve their social, emotional, financial and physical wellbeing amidst a backdrop of long-term caregiving. The program curriculum will be introduced and video-taped via an onsite four day, three-night Rare Mothers Resilience Retreat for a small group of rare disease mothers while supporting thousands more via associated online training.
Cure VCP Disease Awareness Video
Cure VCP Disease, Inc. was formed to drive efforts to cure diseases related to mutations of the valosin containing protein (VCP) gene. This includes the disease inclusion body myopathy which is associated with Paget’s disease of bone and frontotemporal dementia (IBMPFD). The specific objectives of the organization include providing global education and awareness of VCP diseases to doctors, researchers, investors, patients, caregivers and the general public. The support from the RARE Patient Impact Grant will contribute to the creation of a professional educational video about valosin containing protein (VCP) diseases. This educational video will bring awareness to patients and doctors, helping to grow the patient registry numbers and patient base.
Family Fun & Education Events
Danny’s Dose Alliance was formed to raise awareness of the current gap in emergency treatment for all with special medical needs, change the existing treatment protocols, help educate emergency service personnel, and educate affected families in proper emergency planning and protection. With support from the RARE Patient Impact Grant, Danny’s Dose Alliance will hold up to three family education events focusing on emergency preparedness when living with a rare disease, aiming to equip affected families with the steps and understanding to best protect their loved ones in the event of an emergency or crisis.
NF Young Adult Leadership Program
The Littlest Tumor Foundation is committed to strengthening families living with neurofibromatosis (NF), building compassion, advancing NF research, and empowering the next generation of NF leaders. The organization’s patient-centered connection provides critical insight into the needs of the NF community and places supportive programming at the core of what we do. The collaborative NF Young Adult (NFYA) Leadership Program is designed to empower NF affected youth by providing life-altering personal and professional development opportunities. The foundation will build on this pilot by bringing together a group of 14 young adults and some program alumni to serve as mentors and assist in building this program.
Team Telomere, Inc. is a nonprofit disease advocacy organization dedicated to supporting those affected by dyskeratosis congenita and telomere biology disorders. Team Telomere aims to improve diagnosis by educating providers and influencing research by working alongside researchers and scientists. The RARE Patient Impact Grant will support the Family Days to bring hope to families in the community. Each year the team aims to build relationships with institutions to create meaningful time spent with patients, caregivers, and siblings. Family Days will assist in developing regions, creating community, educating all attending of their role in this community and give the gift of having fun with an outing.
Pantry Box Delivery Program
The mission of the Tennessee PKU Foundation is to provide support and education to individuals and families affected by Phenylketonuria (PKU) and similar metabolic disorders, raise community awareness, support PKU research, and promote the overall health and well-being of Tennesseans living with PKU and similar metabolic disorders. To support families with financial needs and avoid the irreversible impact that eating phenylalanine-rich foods can cause PKU patients, the Tennessee PKU Foundation started the Pantry Box Delivery Program. This program delivers a box of low-protein and protein-free foods to families with financial need. Fund from the RARE Patient Impact Grant will allow larger reach for the program.
RARE Capacity Building
Champ1 Research Foundation
The Champ1 Research Foundation supports families affected by the Champ1 gene mutation through clinical research, effective treatment, public awareness, early detection and family support. The RARE Patient Impact Grant will allow the organization to bring information and resources to families who cannot travel or have financial limitations.
Cold Agglutinin Disease Foundation
The Cold Agglutinin Disease Foundation (CADF) strives to foster and increase public awareness and develop education surrounding the diagnosis, management, and treatment of cold agglutinin disease (CAD). With the help of the RARE Patient Impact Grant, CADF will improve organizational development through advancements in technology, strategic planning and ensure the fulfillment of long-term objectives quicker and with greater impact.
Mast Cell Hope, Inc.
Mast Cell Hope was built out of a desire to improve the suffering of mast cell patients and exists to advance research to find new treatments and ultimately cures for mast cell diseases. With the funds from the RARE Patient Impact Grant, Mast Hope Cell, Inc. will use digital media to expand their reach and exposure in the mast cell community.
As a coalition of doctors, researchers, patients and entrepreneurs, Mission: Cure is pioneering a new approach to cure chronic pancreatitis through innovative outcome-based financing. By collaborating with investors and payers, the organization hopes to discover life-altering therapies for patients. After years of meeting the needs of their growing community, Mission: Cure is attaining status as a 501(c)(3). The RARE Patient Impact Grant will support their efforts by assisting in the hiring of employees, building fundraising capacity and organizational infrastructure.
Established out the need to connect adults living with chronic illness and rare disease, Our Odyssey exists to provide social and emotional support in the hope of improving quality of life. With the RARE Patient Impact Grant, Our Odyssey plans to attend more conferences and networking opportunities to expand their reach in the rare disease community. In addition, funds will also support in-person and virtual meetups.
Parents of Scleroderma Kids – Scleroderma Foundation, Inc.
As a leading patient support and advocacy nonprofit focused on the needs of the scleroderma community, the foundation is guided by its three-fold mission, support, education, and research. Together with “Parents of Scleroderma Kids,” the Scleroderma Foundation will use the RARE Patient Impact Grant to provide peer-to-peer support to families and children living with scleroderma. This includes developing dedicated web pages, creating age-appropriate educational materials for children, and enhancing digital and social media tools to disseminate content.
Progressive Familial Intrahepatic Cholestasis Advocacy and Resource Network, Inc.
The Progressive Familial Intrahepatic Cholestasis Advocacy and Resource Network, Inc. (PFIC) is a parent-led organization serving the needs of the PFIC community by improving the lives of patients and families affected by progressive familial intrahepatic cholestasis. With the support from the RARE Patient Impact Grant, The PFIC will re-design its website to further foster the growth and development of the organization and advocacy efforts. The newly designed website will have a stronger focus on education, awareness, advocacy, research development, and include a self-report registry.
SATB2 Gene Foundation
The SATB2 Gene Foundation supports the SATB2-associated syndrome community by enriching the lives of patients and families through support, research and education. With the support from the RARE Patient Impact Grant, the SATB2 Gene Foundation will strengthen the base of the organization through the development of a closed parent portal, housing sensitive documents that can be organized before public distribution. In addition, the grant will also support nonprofit financial management training for the foundation’s board.
Stone Soup Group Stone Soup Group is a statewide nonprofit that provides information, support, training, and resources to assist families caring for children with special needs in the state of Alaska. Staffed almost entirely by parents or family members, the organization assists families as they navigate the complexities that accompany a diagnosis. The Stone Soup Group will utilize the RARE Patient Impact Grant by using the funds to develop a Rare Care Informed Family Navigation training curriculum. This program will help build capacity among staff to better support families, patients and professionals who care for Alaskans living with rare disorders.
T.E.A.M. 4 Travis (Together Ending Asplenia Mortality) T.E.A.M. 4 Travis was founded to prevent families from losing children to the rare genetic birth defect, isolated congenital asplenia (ICA). The organization is focused on fundraising, creating a research network, increasing the medical community, public awareness and developing a genetic test for quicker diagnosis. The RARE Patient Impact Grant will be used to enhance the organization’s infrastructure, including additional website support, donor management software and nonprofit management education for executives.