Rare Disease Day is a day for those in the rare disease community to share their stories. There are over 7000 rare diseases and each person who has a rare disease, or who is working to find a treatment for a rare disease, has a unique story to tell.
CheckRare, an educational platform, has partnered with EveryLife Foundation to share some of those stories with you.
In 2008, the first Rare Disease Day event occurred on February 29th. That day was proclaimed Rare Disease Day in 18 countries. Since then, the last day of February has been proclaimed Rare Disease Day. Today, over 90 countries, including the United States, celebrate Rare Disease Day.
The day provides an opportunity for the rare disease community to educate others about their diagnostic odysseys, medical breakthroughs, cutting edge science, discriminatory health policies, and personal perseverance.
We will be updating this page on a regular basis with those inspirational stories. In the meantime, below are some video highlights from Rare Disease Day 2019
Rare Disease Day at NIH 2019
Rare Disease Legislative Day
NIH Director Francis Collins Talks About Rare Disease Day
At the Rare Disease Day 2019 symposium held at the National Institutes of Health (NIH), numerous speakers took the stage to share their knowledge about managing and/or advocating for rare disease patients. One of the highlights of the day however, was from a speaker with no slides and no data. He did however, provide plenty of inspiration and insights. Francis Collins, MD, PhD, head of the NIH spoke for about 15 minutes about rare disease day and provided an overview of some of the work being done for rare diseases at NIH, including a rare disease of particular interest to the NIH Director.
Dr. Collins began his talk by acknowledging that Rare Diseases are more relevant that ever with all of NIH’s 27 institutes and centers having some investment in rare disease research.
Dr. Collins also noted that rare diseases are often the way he introduces emerging treatment. “One that I talk about a lot right now is sickle cell disease. Sickle cell may not be as rare as many of the conditions that you all represent, but still, only 100,000 people in this country. You are going to see in the next few months increasing number of reports where genetic therapy applied to this molecular disease first described more than 100 years ago,” said Dr. Collins, added, “I’m really excited about that because the approach that was taken there is one of those which can fit other diseases as well. A genetic approach. When we see that happening for sickly cell disease, or for spinal atrophy, and maybe soon for muscular dystrophy. The excitement of having that kind of outcome cannot be overstated.”
Rare Disease Organizations
EveryLife Foundation for Rare Diseases
Focuses on educating and activating the patient community to ensure they are heard by policy makers in government and by industry developing the treatments.
A non-governmental patient-driven alliance of patient organizations representing 724 rare disease patient organizations in 64 countries.
National Organization for Rare Disorders
Provides a unified voice for the 30 million people who wake up every day to fight the battle with a rare disease, including parents and caregivers.
Rare Disease Legislative Advocates
A program of the EveryLife Foundation for Rare Diseases designed to support the advocacy of all rare disease patients and organizations.
A nonprofit health advocacy organization that engages individuals, families, and communities to transform health. They create ways to make it easier to find or build solutions in health services and research.
A rare disease patient advocacy organization that aims to build awareness, educate the global community and provide critical connections and resources that equip advocates to become activists for their disease.
Resources for Families and Caregivers
A unique social hub building communities for patients, families, and healthcare professionals affected by rare disorders.
Caregiver Action Network (CAN)
The nation’s leading 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. CAN (formerly the National Family Caregivers Association) is a nonprofit organization providing education, peer support, and resources to family caregivers across the United States free of charge.
Center for Parent Information & Resources
A central resource of information and products to the community of Parent Training Information Centers and the Community Parent Resource Centers so they can focus their efforts on serving families of children with disabilities.
Cyberbullying Research Center
Dedicated to providing up-to-date information about the nature, extent, causes, and consequences of cyberbullying, it is intended to be a resource for parents, educators, law enforcement officers, counselors, and others who work with youth. You will find facts, figures, and detailed stories from those who have been directly affected by online aggression. In addition, the site includes numerous resources to help you prevent and respond to cyberbullying incidents.
Family Caregiver Alliance (FCA)
A community-based nonprofit organization that that aims to illuminate the caregivers’ daily challenges to better the lives of caregivers nationally, provide them the assistance they need, and champion their cause through education, services, research and advocacy. FCA offers programs at national, state, and local levels to support and sustain caregivers.
Family Voices aims to achieve family-centered care for all children and youth with special health care needs and/or disabilities. Throughout their national grassroots network, they provide families resources and support to make informed decisions, advocate for improved public and private policies, build partnerships among families and professionals, and serve as a trusted resource on health care.
An email list of family of parents, caregivers and others who are working with children with physical and/or mental disabilities and delays.
Parent to Parent USA
Programs offering parent-to-parent support as a core resource for families with children who have a special health care need, disability, or mental health issue. Through a one-to-one “match,” experienced support parents provide emotional support to families and assist them in finding information and resources.
Sibling Support Project
A national program dedicated to the lifelong and ever-changing concerns of the millions of brothers and sisters of people with special health, developmental and mental health concerns.
A website providing information from various government agencies on what bullying is, what cyberbullying is, who is at risk, and how you can prevent and respond to bullying.
The Bully Project
Inspired by the award-winning film BULLY, this social action campaign includes tools for educators to spark meaningful conversations about bullying.
The Parent Advocacy Center for Educational Rights (PACER Center)
PACER Center is a parent training and information center for families of children and youth with all disabilities from birth to young adults. Parents can find publications, workshops, and other resources to help make decisions about education, vocational training, employment, and other services for their children with disabilities. PACER’s National Bullying Prevention Center provides resources designed to benefit all students, including those with disabilities.
The Washington State Fathers Network (WSFN)
The Washington State Fathers Network (WSFN) connects men with other dads, resources, information and education, plus opportunities for “all family” celebrations. Focus is on assisting fathers as they become more competent and compassionate caregivers for their children with special needs. WSFN is the only regional program in the US and Canada fully devoted to fathers of children with special health care needs and developmental disabilities. Since 1986 it has opened new doors of hope for thousands of men and their families, providing them with support and resources to be effective, nurturing dads.
General Health Resources
Agency for Healthcare & Research Quality (AHRQ)
Aims to provide evidence to make health care safer, higher quality, more accessible, equitable and affordable, and to work with the US Department of Health and Human Services and with other partners to ensure that the evidence is used and understood.
Health Hotlines (National Library of Medicine)
A community service to help the public locate health-related information.
Social Security Administration Compassionate Allowances Program
Provides a way of quickly identifying diseases and other medical conditions that may qualify for financial assistance.
Center on Technology & Disability
Designed to increase the capacity of families and providers to advocate for, acquire, and implement effective assistive and instructional technology practices, devices, and services for those who suffer from disabilities.
National Human Genome Research Institute
Developed with the goal of mapping the human genome, the group provides a list of resources for financial assistance with genetic testing.
National Library of Medicine
Provides guidance on how to find reliable information online regarding human genetics.
Patient Advocate Foundation
Provides professional case management services to individuals facing barriers to healthcare access for chronic and disabling disease, medical debt crisis, and employment-related issues at no cost.