RESOURCES
~ LINKS TO EXTERNAL SITES~
For Families and Advocates
Courageous Calla and the Clinical Trial – Inspiring and accessible writing for children and their parents as they face the challenges of severe illness and clinical trials.” – Howard Forman, Professor of Public Health at Yale University“
Courageous Parents Network – Framework for Sharing Decision-Making with Your Child’s Clinicians – y en Espanol
Next Step in Care: Family Caregivers and Health Care Professionals Working Together – a wealth of resources for caregivers and health care professionals manage a medically fragile person. Information in English, Español, 中文, and русский.
Caregiver Action Network – a Guide for Family Caregivers of Loved Ones with Rare Diseases. Site has been translated into Français, Deutsche & Español.
Family Voices – a national, nonprofit, family-led organization promoting quality health care for all children and youth, particularly those with special health care needs.
Global Genes RARE Toolkits – usable information on a variety of topics related to living with and/or advocating for rare disease patients.
Got Transition – Got Transition/Center for Health Care Transition is a cooperative agreement between the federal Maternal and Child Health Bureau and The National Alliance to Advance Adolescent Health. [Their] aim is to improve transition from pediatric to adult health care through the use of new and innovative strategies for health professionals and youth and families.
Special Needs Alliance – a national nonprofit comprised of attorneys who have guided thousands of families through the process of planning for a loved one’s long-term well-being. Many SNA members have children or siblings with disabilities, adding a personal perspective to their legal insights.
Children’s Cardiomyopathy Foundation – All of the RASopathies have an increased risk of developing cardiomyopathy. This site can help families learn about and find support for issues related to cardiomyopathy.
Epilepsy Foundation for families with children who have seizures.
Centers for Medicare & Medicaid Services Partnership for Patients
The Office of Special Education and Rehabilitative Services (OSERS) is seeking input from users of the IDEA.ed.gov website as part of their effort to provide updated, easy-to-navigate IDEA resources to children with disabilities and their families, teachers, administrators, advocates, and other stakeholders. OSERS has posted a blog for you to provide comments.
Child Mind Institute – The leading independent nonprofit in children’s mental health providing gold-standard evidence-based care, delivering educational resources to millions of families each year, training educators in underserved communities, and developing tomorrow’s breakthrough treatments.
For Clinicians and Researchers
SimulConsult – Diagnostic Decision Support
Noonan Syndrome Guidelines by DYSCERNE
Next Step in Care: Family Caregivers and Health Care Professionals Working Together – a wealth of resources for health care professionals support caregivers to manage a medically fragile person
The Undiagnosed Disease Network – Solving medical mysteries through team science
Varsome – The Human Genetics Community
ClinVar – Information about genomic variation
ClinGen – Clinical genome resource
Gabriella Miller Kids First Pediatric Research Program -uncover new insights into the biology of childhood cancer and structural birth defects, including the discovery of shared genetic pathways between these disorders
Kids First Data Resource Center -provides robust genetic and clinical data for pediatric cancer and congenital disorders. Kids First data is accessible to researchers worldwide, free of charge
For Advocates and Clinicians
Genetic Alliance – a nonprofit health advocacy organization committed to transforming health through genetics and promoting an environment of openness centered on the health of individuals, families, and communities.
Global Genes – a rare and genetic disease patient advocacy organization that promotes the needs of the rare and genetic disease community.
NORD – National Organization for Rare Disorders
PCORI – Patient-Centered Outcomes Research Institute
Positive Exposure – The Spirit of Difference, photography by Rick Guidotti
* Costello syndrome
* Noonan syndrome
Partnerships for Patients – Physicians, nurses, hospitals, employers, patients and their advocates, and the federal and State governments have joined together to form the Partnership for Patients to engage 100 percent of the nation’s acute care medical centers participating in making hospital care safer, more reliable, and less costly through the achievement of making care safer and improving care transitions. A federal government website managed by the Centers for Medicare & Medicaid Services.
