~ 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.
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.
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
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.
Healx RareOmics publication search engine: https://rareomics.healx.io/
The following charts come from Shvartsman Lab’s publication, which can be found here: http://www.ncbi.nlm.nih.gov/pubmed/26203125 Many thanks to Dr. Shvartsman for sharing this information!
For information about his lab, go to http://shvartsmanlab.com/
The Ras-MAPK signaling pathway and associated mutations:
Venn diagram for RASopathies phenotypes:
Venn diagram of phenotypes in animal models:
Timeline of major developments in animal models for the RASopathies: