Congratulations to the Continuity of Care RARE Patient Impact Grant Foundation Awardees!
Advancing Sickle Cell Advocacy Project, Inc.
ASAP’s vision is to become a leader in advocating for better protocols, raising awareness, developing a wide range of support, educational, and networking services designed to improve the quality of life for people living with Sickle Cell Disease. ASAP’s mission is to change the narrative concerning sickle cell disease by bringing awareness and educating the community, advocating on behalf of sickle cell warriors, and bridging the gap between the medical community and sickle cell clients. We are serving as a voice to the voiceless on a silent disease that needs to be spoken up for.
Over 50 conditions, many of them rare, can cause adrenal insufficiency. What binds us together as one group is the threat of an adrenal crisis, which can lead to death. In 2011, two Oregon moms met for the first time. Each worried about their children and the lack of protocols to treat an adrenal crisis. Both had reached out to their local and state EMS only to meet roadblocks, so they decided to work together to get it done. Parents from other states wanted the same, and the grass-roots movement of parents, families, and affected adults took off. Realizing there was a lot more to carry out, Adrenal Insufficiency United was officially formed. At Adrenal Insufficiency United
we work to improve the lives of those affected by adrenal insufficiency through support, education, collaboration, and legislative action.
Alagille Syndrome Alliance
At the Alagille Syndrome Alliance, “We are mobilizing resources, facilitating connections, promoting unity, and advocating for a cure to inspire, empower, and enrich the lives of people affected by Alagille Syndrome.” The ALGSA is a 501c3 patient advocacy nonprofit working to improve the lives of families and individuals living and dealing with ALGS through measurable and impactful family programs. As the primary source for current and accurate data, we offer resources and materials to families, scientists, researchers, clinicians, and industry. We contribute to ALGS science projects, collaborate with those studying ALGS, offer a wide range of valuable input and data to support ALGS science and research initiatives, and bring the patient voice to the forefront of all we do. The ALGSA is actively and diligently supporting, contributing to, and helping push forward every effort to improve the lives of those living with Alagille Syndrome and those working to provide better treatments and a cure. Let us know how we can help you. For more information, please email [email protected]
or visit our website at alagille.org
ALS Ride For Life
ALS Ride For Life
was founded in 1997 as a patient-driven, volunteer organization with the mission of raising research funds to find a cure for Amyotrophic Lateral Sclerosis (ALS), supporting patients and their families through patient services, raising public awareness and providing the community with the latest ALS news, information and inspiration.
APS Type 1 Foundation
We support education, awareness, and fundraising for critical research in APS Type1. The APS Type 1 Foundation was started by a group of dedicated parents who were determined to ensure that their children received the best care possible, and that no one should have to wait for a diagnosis or treatment for APS Type 1. Since our founding in 2014, our community has grown to include patients, family members, loyal friends, caregivers, dedicated doctors, and scientists. We are proud of how much we have accomplished in a few short years. The APS Type 1 Foundation has: Hosted three International Symposia, offered seven research grants in partnership with NORD valued at over $5000,000, and created the world’s first web-based registry for patients to input their information about life with APS Type 1. We are most proud of the times when a person is diagnosed faster or receives better treatment because of the Foundation’s activities.
Angelman Syndrome Foundation
The mission of the Angelman Syndrome Foundation 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. We exist to give all of them a reason to smile, with the ultimate goal of finding a cure.
Association for Prevention of Sickle Cell Anemia in Harford and Cecil Counties
The Association is a private, nonprofit 501(c)3 organization in Aberdeen that was incorporated in 1982 an is among the oldest and service organizations in the State. It was established by our late founders: Mazie Taylor, Odessa Phillips and Viola Scott.
Avery’s Hope raises money and awareness for children living with rare gastrointestinal disease and their families facing the financial challenges of out-of-pocket and insurance denied expenses. As a patient assistance organization, financial support is provided to hospital funds throughout the country. Avery’s Hope started the HOPE Family Fund for the Department of Gastroenterology, Hepatology and Nutrition at the Children’s Hospital of Philadelphia. We contribute to Acacia Puelo Small Bowel/Liver Transplant Patient Assistance Fund at Children’s Hospital of Pittsburgh, the Department of Clinical Nutrition at St. Jude Children’s Research Hospital and we have started a relationship with Texas Children’s Hospital. Along with patient assistance, Avery’s Hope actively advocates for rare disease rights and policies. Founder & Executive Director, Caryl Harris, is a member of RAM-Rare Advocacy Movement and collaborates on projects benefiting rare disease communities. The organization is named for the founder’s grandson, Avery, who was born with Microvillus Inclusion Disease.
BPAN Warriors Mission: “To expedite scientific research that will advance therapeutics and accelerate a cure for BPAN.” BPAN Warriors is committed to bridging the gap between scientific discoveries and meaningful progress toward treatments and a cure for BPAN by utilizing the rapid advances in science, AI learning, bio-informatics, and robust data collection platforms. Dedicated to transparency, accountability and global collaboration, BPAN Warriors is singularly focused on patient-centered translational research that will enhance the quality of life for individuals living with BPAN.
The Brain Recovery Project: Childhood Epilepsy Surgery Foundation
Back in 2011, we started The Brain Recovery Project to fund research to better understand how to help their kids reach their full potential hemispherectomy surgery. There is so much research which talks about seizure control. But very little about functional outcomes. Are children able to walk after surgery? How do they do in school? What behaviors are most challenging? After meeting countless families, we now realize that we are still in the dark about what happens after other epilepsy surgeries. This is a concern for us. Parents are often wary of brain surgery to stop seizures because of so many unknowns. Because of this fear, it make take years before they consider brain surgery for their child.
Our website has research-based, credible information to help parents understand when a child’s seizures are drug resistant. We explain the risks and dangers of seizures and help parents and guardians weigh the pros and cons of the various brain surgeries to stop them. Understanding what to do after surgery can be overwhelming. We help parents understand the medical, cognitive, and behavioral challenges a child may have through life, as well as guide parents through financial and life care issues. If parents want to connect with other families, or need IEP help in school, we’re here to help.
CLOVES Syndrome Community
CLOVES Syndrome Community supports, educates, and improves the lives of those affected by CLOVES Syndrome. We believe that when patients and their families are informed and supported, they are better equipped to handle their own medical, emotional, and physical needs. CLOVES Syndrome Community does this by cultivating a thriving patient community, convening medical conferences, publishing books for children, and funding medical research. We also bring families together for Betsy’s Camp, an annual opportunity for community, connection, relaxation and fun. In February of 2020, we joined the Chan Zuckerberg Initiative Rare As One Network. The Rare As One Network aims to strengthen the efforts of patient-led groups. It will help communities of patients, researchers, and clinicians work together to advance progress against their diseases and scale these efforts. Working in partnership with the rare disease community, the Rare As One Network will create shared infrastructure to lower the barriers to patient-led research and enable patient communities to learn from one another. No one is more motivated than patients to drive progress against their disease. We’re proud to be creating a patient-led research network to accelerate research and find treatment options for people with CLOVES and PIK3CA Related Conditions.
Chelsea’s Hope (ChelseasHope.org) began in the fall of 2007 as a means to share Chelsea Gerber’s story with family and friends. This is was two years after she was diagnosed with Lafora disease at the age of 14. Through this website, the Gerber family has been able to help raise awareness about disease, connect with other Lafora families, and to help fund research to try to find a cure. In September 2009, Chelsea’s Hope Lafora Children Research Fund became an IRS 501(c)3 non-profit organization. Nonprofit Public Benefit California Corporation EIN: 27-1008382.
Dreamsickle Kids Foundation
Dreamsickle Kids Foundation is the 1st Sickle Cell Organization in Nevada. Created in 2018 by mother and Executive Director Gina Glass. Gina witnessed first hand the lack of knowledge and resources for people affected with Sickle Cell in Nevada. From her personal experience , Dreamsickle Kids was birthed. The purpose of the organization is to increase Awareness, celebrate,educate and support families impacted by Sickle Cell Disease and now all Rare Diseases in Nevada,while also educating medical providers and the community on the affects of this debilitating disease. Dreamsickle Kids partners with many organizations and individuals to elevate Sickle Cell Awareness in the state of Nevada and across the United States. Being the pioneer of advocacy for this rare disease in Nevada ,Dreamsickle Kids has been tasked with bringing more information and awareness to Nevada to ensure that the Silver State accounts for the needs of all of its citizens ,including the small Sickle Cell population. With the passing of AB254 this past June, the state is on the path to do just that.
Huntington’s Disease is a genetic, progressive and fatal neurodegenerative disease. It affects people with a worldwide prevalence of 0.5-1 per 10,000 people. The disease is caused by mutations in a single gene, called Huntington, and the penetrance of the mutation is 100%. Huntington’s disease does not discriminate based on ethnicity or gender. It advances slowly, but relentlessly. The progression of the disease is variable depending on the type of mutation one inherits. Although less common than the adult-onset Huntington’s disease, a juvenile form of the disease exists, and it is rather prevalent in many Latin American communities. Today, a person born with Huntington mutations will die from Huntington’s disease if she or he lives long enough. Latin America holds a special place in the scientific history of HD. In 1993 an international effort first identified the mutations causing Huntington’s disease in the large number of related, affected people living in the Maracaibo region of Venezuela. Our mission is to create the necessary conditions that build empowered, cared for, and self-sufficient families through alliances with their communities, local and international partners and organizations, both private and public.
Foundation to Fight H-ABC
The Foundation to Fight H-ABC was established in 2015 to spread awareness, improve quality of life, and work toward finding a cure for the degenerative children’s disease, H-ABC. Hypomyelination with Atrophy of the Basal ganglia and Cerebellum (H-ABC) is a progressive neurological condition at the most severe end of the TUBB4A-related leukodystrophy spectrum. Children affected by leukodystrophy slowly lose control of their motor skills, and ultimately cannot walk, talk, or sit on their own.
Watching your child deteriorate physically and mentally right before your eyes is a pain no parent should ever have to experience. Together we can make a difference in the lives of families across the globe by giving children with H-ABC, and other TUBB4A-related leukodystrophies, a fighting chance. A cure is within reach, help us get there. With support from generous people like you, the Foundation to Fight H-ABC aims to spread awareness about this rare genetic disorder and help the children who suffer from it. Our mission is to raise money for research on gene therapy treatments that could stop the degenerative effects of this disease.
We are a 501(c)(3) organization created by parents of children diagnosed with rare forms of Epilepsy and Autism as a result of a change in the SCN2A gene. Our vision is to find effective treatments and a cure for SCN2A related disorders. Our mission is to improve the lives of those affected by SCN2A related disorders through research, public awareness, family support and patient advocacy. To accomplish our vision and mission, we will: Coordinate and collaborate with the global scientific community to understand the function of the SCN2A gene in order to develop effective treatments and a cure for SCN2A disorders, increase medical community and public awareness of the complexity and potential severity of SCN2A disorders, provide educational and emotional support for those affected by SCN2A disorders, and Raise money to fund our goals.
Fighting for Kaiden Foundation
The Fighting for Kaiden Foundation is a non-profit organization committed to enhancing the lives of those struggling with Spinal Muscular Atrophy (SMA) on multiple fronts. Directly, we strive to raise awareness of the disease on the local, regional and national levels. Our foundation provides need-based financial support to affected families for equipment and supplies, travel, and educational equipment. We understand the value of peer support and organize support groups and information for SMA affected families in our area. We provide directed donations for medical research in addition to medical equipment and services for SMA patients across the country. Our goals are driven by our devotion to improving the lives and finding a cure for those with SMA.
GRIN2B Foundation was created by parents in 2017 to help foster research and provide family support for persons living with GRIN2B-Related Neurodevelopmental Disorder. This disorder, called “GRIN2B” for short, occurs when a genetic variation occurs in a person’s GRIN2B gene. The disorder causes global developmental delays. Common symptoms include hypotonia (low muscle tone), delayed speech, gross and fine motor coordination problems and sensory processing disorder. GRIN2B Foundation’s mission is to further research on the GRIN2B gene and provide support and education to the small, but growing community of individuals and families impacted by a GRIN2B diagnosis.
Asociación Puertorriqueña de Hemofilia
Asociación Puertorriqueña de Hemofilia y Condiciones de Sangrado (APH) is a non-profit entity founded 21 years ago. For almost a decade the organization served hemophilia patients and their families in Puerto Rico. Through the next years the organization evolved and opened their offerings and services to others bleeding disorders such as von Willebrand disease and other factor deficiencies. Since 2018, the organization had a fresh start with a new Board of Directors. With a new and young vision, the organization focused in two main goals. First, to honor the legacy and achievements of the past by continuing offerings to the patients and their families and second to reform the organization by building capacity to become a much more solid and reliable non-profit organization capable to fully support our local bleeding disorders community.
Hemophilia Foundation of Southern California
The Hemophilia Foundation of Southern California is the leading resource for those affected by bleeding disorders in Southern California. We serve 9 counties: Kern, Los Angeles, Ventura, Santa Barbara, San Luis Obispo, Orange, Riverside, San Bernardino and Inyo. Hemophilia Foundation of Southern California (HFSC) is a 501(c)(3) organization in Southern California that works to improve and enrich the lives of our bleeding disorder community members for over 60 years. We work closely with 4 Hemophilia Treatment centers in Southern California as well as with National Hemophilia Foundation (NHF) and Hemophilia Federation of America (HFA) to provide fun, exciting, engaging, and educational programs to the bleeding disorders community.
Illinois Spina Bifida Association
The Illinois Spina Bifida Association (ISBA) is a 501(c)(3) nonprofit organization founded in 1969 by a group of dedicated parents. Our programs are designed to work in partnership with families, service providers, volunteers, researchers, and funders throughout the state and country. The organization formerly used “Spina Bifida Association of Illinois” as an alternate name. ISBA’s office is located at Shriners Hospitals for Children – Chicago. The Illinois Spina Bifida Association works to improve the quality of life of children, adults, and families living with spina bifida. Spina bifida is a lifelong neurological condition that affects the spine and is usually apparent at birth. Spina bifida can cause physical and developmental disabilities that range from mild to severe. Spina bifida is a complex condition that, for many, requires specialized medical care and daily attention to health and wellness.
Life and Family Foundation
The Life and Family Foundation of Virginia is a community-based organizational (CBO) hub for the State of Virginia providing Advocacy, Education, Empowerment and Partnerships. The hub is for individuals, families, medical practitioners, and care givers of those with health care problems related to Sickle Cell Disease, a chronic disease with acute, painful debilitating systemic syndrome characterized by chronic anemia, acute painful episodes, organ infraction and chronic organ damage often resulting in shorter life expectancy.
Miles for Cystic Fibrosis
CF is a genetic condition that affects over 30,000 people in the United States. People with CF battle many serious symptoms, including difficulty with breathing and digesting food. Lifelong treatment with medications, breathing treatments, nutritional supplements, and exercise improve quality of life, but there is no cure. At M4CF, we support individuals and families living with CF in a variety of ways. We offer programs to promote regular exercise, provide financial support to individuals and organizations in the CF community, create opportunities for action and service, provide education, and raise awareness.
Mitchell Thorp Foundation
The Mitchell Thorp Foundation aims to give families hope and support when they need it most. We foster a variety of sponsored events, benefits and fundraisers to help families through times of struggle. Our mission is to support families whose children suffer from life-threatening illnesses, diseases and disorders, by providing financial, emotional and resource support to their desperate situation. Our purpose is to make a difference today for a child who is fighting for their tomorrow, while bringing hope, relief, and transforming lives in the process. A public 501 (c)(3) nonprofit organization that provides support throughout California. Our focus is to provide individualized aid to meet the needs of the child and family through our Medical and Home Assistance Programs, Healing and Wellness Programs and Conversion Van Program
Originally called Angel Plane, we started out flying regionally on private charters. Over the years, we became an engaged member of the Las Vegas community, staging a series of popular air shows to raise funds as we grew our network of pilots, started flying coast to coast and helped an ever-increasing number of children in need of specialty care that was only available far from home. In 1996 we became Miracle Flights for Kids and began to earn national recognition for our work, including President George H.W. Bush’s Daily Points of Light Award in 2001. By 2005, we were coordinating hundreds of flights every month. We began flying our families exclusively on commercial airlines – where flights were more economical and convenient for our flyers. Demand continued to increase, and in 2010 we coordinated our 50,000th flight.
For over 15 years, MitoAction
has transformed the lives of families affected by mitochondrial disease. Our mission is to improve the quality of life for children, adults and families living with mitochondrial disease through support, education, outreach, advocacy and clinical research initiatives and granting wishes to children affected by this rare disease. Our programs include the Mito411 Helpline, weekly support groups, live education events, Matthew Harty Camper and Scholarship Fund, Marcel’s Way Family Fund which provides support to ease the financial burden of living with the disease, Monthly Expert Series presentations, our website and new MitoAction Mobile platform which provides a tool for families to manage their disease and communicate and coordinate with their care team, while helping us to learn more about the natural history of this disease.
National PKU News
National PKU News provides support and resources for individuals and clinicians managing a diagnosis of Phenylketonuria or PKU, or similar inborn errors of metabolism that require a low-protein diet. Our primary focus is on improving the daily lives of people with inborn errors of metabolism by making diet management easier, tastier, and less expensive. Our programs include How Much Phe, an online diet-management system; Cook for Love, a low-protein recipe site (CookForLove.org) and online community; GO LOW PRO, a low-protein grocery and restaurant locator; printed resources including our How Much Phe: The Baby Book, which is provided free of charge to all newborns with PKU in the US and Canada; and advocacy efforts to support medical nutrition coverage and other issues important to our community and the rare disease community at large.
The PMG Awareness Organization
The PMG Awareness Organization is a 501(c)3 nonprofit organization of families, caregivers and medical professionals who care about those with Polymicrogyria. We are committed to bringing awareness of Polymicrogyria (PMG) and to be a guiding light for those who have lost their way after being diagnosed. Our goal is to provide a comprehensive overview of Polymicrogyria by: offering support to all individuals and families who are affected by Polymicrogyria, educating families who are newly diagnosed as well as continuing to educate those already diagnosed by keeping them abreast of the latest medical information, treatments, therapies, medications, potential procedures, financial resources and research available, maintaining a current and up to date list of available resources and links to pertinent information having to do with Polymicrogyria, advocating to raise awareness and increase the public’s knowledge of Polymicrogyria, to create change by encouraging people speak up about Polymicrogyria and lead our families as well as the public to improvements in policies, legislation and service development, offer support and encouragement to families and individuals affected by Polymicrogyria through different organizational programs such as Contact A Family, Birthday Program, Traveling Awareness Bears, Support Groups, Meet-Ups, Conferences etc. We at the PMG Awareness Organization are COMMITTED to learning everything that we can about PMG, so that we can share the information with you. This organization was founded because of the direct impact PMG has on our families. We found so little information and even less support. The more information and support we have, the better we can serve our loved ones. And so, we are in this together!
SATB2 Gene Foundation
The SATB2 Gene Foundation, Inc. was established to enrich the lives of individuals with SATB2-associated syndrome, including those diagnosed with the condition and their families, through support, research and education. Our mission will be met by providing support to families, supporting research in a wide range of issues related to SATB2-associated syndrome, raising awareness about the characteristics of SATB2-associated syndrome.
South Central PA Sickle Cell Council
What we do at the South Central PA Sickle Cell Council each day impacts the lives of people who live with this painful disease in the 26 PA Counties that we support. Various people contact the Sickle Cell Council (SCC) to ask for help for themselves, and/or, loved ones. After identifying people who are suffering silently, without the benefits of our services, we encourage them to start using our programs and services to make their lives easier. SCD affects thousands of people living in Pennsylvania, and affects 100,000+ people in the United States alone. There are over 300,000 infants born each year, worldwide with SCD. SC Disease and SC Trait are common in many ethnic groups including: African, Arab, Asian, Black, Caucasian, Greek, Indian, Italian, and Latino. Trait Facts: 1 to 3 Million Blacks in the USA have the Trait; 100 Million Blacks Worldwide have the Trait.
Sickle Cell Disease Association of America, Philadelphia/Delaware Valley Chapter
We are a non-profit 501(c)(3) psychosocial, social service and advocacy agency established in 1982. SCDAA/PDVC provides resources and assistance to children, adolescents, and families affected by sickle cell disease and sickle cell trait in Philadelphia, Berks, Bucks, Carbon, Chester, Delaware, Lackawanna, Lancaster, Lehigh, Luzerne, Monroe, Montgomery, Northhampton, Pike, Schuylkill, Susquehanna, Wayne and Wyoming counties.
The mission of SCDAA/PDVC is to serve as a vehicle and resource center for the psychosocial and social service needs of children, adolescents, adults and families affected by sickle cell disease. SCDAA/PDVC seeks to develop, manage and allocate resources in partnership with hospitals, charitable organizations community based organizations and social service agencies.
Learn more here!
Our mission is to provide information and support services to families worldwide affected by Dyskeratosis Congenita and Telomere Biology Disorders, to encourage the medical community’s research in finding causes and effective treatments, and to facilitate improved diagnosis by educating medical providers.
U.R. Our Hope
U.R. Our Hope is a registered 501 (c)(3) non-profit organization that assists individuals and their families on their journey to diagnosis,or helps them navigate the healthcare system with a rare diagnosis. Our mission is to serve individuals with undiagnosed and rare disorders through education, advocacy, and support in order to bring hope through knowledge, empowerment, and healing. We assist families in the Austin area, and throughout Texas, the United States and beyond.
With the medical advancements and technology available to us today, it is hard to believe that anyone could live without a diagnosis, but this is a reality faced by many of our families and countless others across the world. There are currently over 7,000 rare disease and the average journey to diagnosis is SEVEN YEARS!! Many of these disease are rapidly progressing and some individuals cannot afford to wait seven years. Sadly, many children do not live to see their 5th birthday and their families are left struggling for answers and fear of the future for other children. It is imperative that we help these families find answers quickly and efficiently.
White Sutton Syndrome Foundation
The White Sutton Syndrome Foundation was established in the spring of 2018, by two couples that both had young sons who had been diagnosed with White Sutton Syndrome (WHSUS). When they started the foundation, WHSUS was very rare and it was difficult for the parents and loved ones of those with WHSUS to find each other. There was also an information vacuum about WHSUS, unless one was committed enough to hunt down and read jargon-heavy articles in medical journals. The founders saw an opportunity to step into this gap and provide some of the answers, clarity and community that many were searching for. Having faced the long road to a diagnosis themselves, they understood how lonely that road could be and how desperately many longed for answers. They empathized with many who were aching for a clear, concise explanation of what their loved one’s diagnosis entailed, and what they could expect for them in the future. Many questions about WHSUS remain. The founders understood this, and one of the White Sutton Syndrome Foundation’s primary goals is to seek out more and better answers by supporting medical research. They also strive to serve those with WHSUS and their loved ones and to improve their quality of life. Lastly, understanding that awareness is one of the most effective ways to motivate people and cultivate change, they have dedicated themselves to educating others about WHSUS and its possible management and treatment strategies.
The William E. Proudford Sickle Cell Fund, Inc.
The William E. Proudford Sickle Cell Fund, Inc., a 501(c)(3) non-profit organization, has been operating in the Mid-Atlantic region since its founding in 2005. The Fund’s vision is “a world without sickle cell disease,” and its mission is to support sickle cell awareness, education, state-of-the-art treatment and research. By pursuing its mission, the Fund strives to bring hope to families affected by this debilitating disease. The Fund supports comprehensive, multi-disciplinary care for patients and families through targeted giving to established institutions. The Fund also raises awareness, recognizes “Unsung Heroes” who have advanced sickle cell efforts, and holds artSPEAKS sessions for patients and families. The Fund is the Lead Community-Based Organization (CBO) for SiNERGe (Sickle Cell Improvement in the Northeast Region through Education), coordinating the efforts of CBOs in 13 states, 2 territories and the District of Columbia.
The XLH Network, Inc.
In 1996 a college student in Minnesota connected online with a man in England whose wife and children have XLH, and with a man in British Columbia whose son had a spontaneous case. All of them were looking for help on the internet, and from this connection The XLH Network was founded in November, 1996 as an international volunteer group of people affected by or interested in XLH, or X-Linked Hypophosphatemia. Today we’re incorporated as a 501(c)(3) tax-exempt charity – making all donations tax deductible to the fullest extent allowed by law. We are the first organization in the world specifically dedicated to XLH.
The XLH Network is helping thousands of people around the world who are affected by or interested in XLH and related disorders of phosphate wasting. Our website provides information to people around the world with up-to-date information on diagnosis, treatment and the very latest research. XLH Network Inc membership is growing daily, and members have available to them a variety of tools that help connect patients with each other, and with clinicians and researchers as well.