Once Upon a Gene Podcast
When Effie’s son, Ford, was born with an extremely rare genetic condition called CTNNB1 syndrome she dove headfirst into the world of advocacy. To help herself and others cope with and manage raising a child with a disability or rare genetic condition, Effie started the Once Upon a Gene podcast. In this podcast, she shares her personal stories and interviews other people impacted by rare conditions as well as, parents, advocates, doctors, scientists, and more.
Orphanet is a unique resource, gathering and improving knowledge on rare diseases to improve the diagnosis, care and treatment of patients with rare diseases. Orphanet aims to provide high-quality information on rare diseases, and ensure equal access to knowledge for all stakeholders.
Global Genes is a leading rare disease advocacy organization. Its mission is to build awareness, educate the global community, and provide critical connections and resources that empower advocates to become activists for their disease.
Rare in Common Podcast
The 2017 Emmy-nominated Rare in Common documentary gave people from the rare disease community an opportunity to tell their stories. Today, the storytelling has expanded to the world of audio with the Rare in Common podcast. Whether you watch or listen, prepare to be moved and inspired by those touched by rare disease.
National Organization for Rare Disorders (NORD)
NORD is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. NORD, along with its more than 300 patient organization members, is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services.
Canadian Organization for Rare Disorders (CORD)
CORD is Canada’s national network for organizations representing all those with rare disorders. CORD provides a strong common voice to advocate for health policy and a healthcare system that works for those with rare disorders. CORD works with governments, researchers, clinicians and industry to promote research, diagnosis, treatment and services for all rare disorders in Canada.
Caregiver Action Network
The Caregiver Action Network is a family caregiver organization working to improve the quality of life for the more than 90 million Americans who care for loved ones with chronic conditions, disabilities, disease, or the frailties of old age. It supports family care partners through education, information, referral services, and advocacy.
EveryLife Foundation for Rare Diseases
The EveryLife Foundation for Rare Diseases is dedicated to advancing the development of treatment and diagnostic opportunities for rare disease patients through science-driven public policy. The Foundation does not speak for patients, but instead provides the training, education, resources, and opportunities to make patient voices heard.
Rare New England (RNE)
Rare New England’s mission is to bring together New England patients, families and providers touched by rare and complex disorders. The organization offers educational opportunities, creates awareness of available resources, and builds foundations for support to improve patient quality of life.
The mission of Danny’s Dose is to raise awareness about the current gap in emergency treatment for those with special medical needs, change the current protocols, help educate emergency service personnel, and educate affected families in proper emergency planning and protection.
Parent to Parent USA
Parent to Parent USA provides emotional & informational support for families of children who have special needs.
Remember the Girls
Remember the Girls’ mission is to raise awareness of the many issues facing female carriers of x-linked recessive genetic disorders; to provide a forum for x-linked females to share their stories, ask questions, provide and receive emotional support, and develop friendships; and to advocate for increased attention of the medical community to the physical and emotional issues of females who carry x-linked disorders.
Siblings with a Mission
Siblings with a Mission serves and supports siblings and families of individuals with complex health conditions and developmental disabilities.
The International Pain Foundation (iPain)
iPain is devoted to advancing access and quality care in order to help people suffering from a variety of muscular skeletal, inflammatory, neurological, emotional, degenerative and often rare conditions that involve chronic pain through education, awareness, and access to care projects.
ANGEL AID sources research, relief, and inspiration for mothers of children with rare diseases. Join their community to connect with other Rare Mothers, learn the tools of self-care, and be listened to without judgement.
Child Neurology Foundation
The Child Neurology Foundation (CNF) connects partners from all areas of the child neurology community so those navigating diagnosis, management, and care have ongoing support from those dedicated to finding treatments and cures. Parents, care partners, families, and people living with neurological conditions can find information, education, and one-on-one peer support when it’s needed most.
The Rare Disease Diversity Coalition
The Black Women’s Health Imperative launched the Rare Disease Diversity Coalition to address the extraordinary challenges faced by rare disease patients of color. The Coalition brings together rare disease experts, health, and diversity advocates, and industry leaders to identify and advocate for evidenced-based solutions to alleviate the disproportionate burden of rare diseases on communities of color.
FasterCures: Patients Count
For too long, patients’ unmet medical needs have been an afterthought, rather than a starting point, for developing medical products that address their priorities and deliver value to the health-care system. FasterCures aims to improve health by driving adoption of methods by which patients’ perspectives shape processes for discovering, developing and delivering medical products and services.
Our Odyssey connects young adults impacted by a rare or chronic condition with social and emotional support in the hope of improving their quality of life.
The Mighty is a digital health community created to empower and connect people facing health challenges and disabilities.
Chronically Capable is an employment platform that connects chronically ill professionals to companies looking to hire a digital workforce and meet the 7% utilization goal required under Section 503 of the Rehabilitation Act.
Disease-Specific Advocacy Groups
- Angelman Syndrome (AS)
- CDKL5 Deficiency Disorder (CDD)
- Creatine Transporter Deficiency (CTD)
- Duchenne Muscular Dystrophy (DMD)
- Glycogen Storage Disease Type Ia (GSDIa)
- Glycogen Storage Disease Type III (GSDIII)
- Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)
- Mucopolysaccharidosis Type VII (MPS VII)
- Ornithine Transcarbamylase (OTC) Deficiency
- Osteogenesis Imperfecta (OI)
- Tumor-Induced Osteomalacia (TIO)
- Wilson Disease (WD)
- X-linked Hypophosphatemia (XLH)