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
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
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.
Danny’s Dose
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.
