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Resources
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Resources for Families
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Newborn Screening Brochures in Multiple Languages
The following brochures developed by New England Public Health Genetics Education Collaborative (NEPHGEC), give the reader an overview of the newborn screening process and the genetic conditions for which the panel screens, available in multiple languages. Click on the links below to download the PDFs.
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Newborn Screening Brochures by state
For more information about your state’s newborn screening program, including state-specific brochures, lists of current conditions for which there is testing (there are differences from state to state), and contact information, please click on a state below:
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Newborn Screening Clearinghouse
link This website, in development by the Genetic Alliance with the help of the Regional Collaboratives, aims to be a "one stop shop" for information related to newborn screening.
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Find a Geneticist
The GeneTests web site is a publicly funded medical genetics information resource. Their Clinic Directory, a voluntary listing of US and international genetics clinics providing genetic evaluation and genetic counseling, identifies for families the most conveniently located genetics clinics providing the services that they need.
ACMG's Genetics Clinics Database is a service for individuals who wish to locate a genetics center. The Database contains the locations of genetics clinics that have requested to be listed.
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General Genetic and Genomic Information
- Know Your Genes, a web site developed by the Genetic Disease Foundation, includes information about planning a pregnancy, genetic testing, finding a genetic counselor, GINA, and more.
- Pediatric Genetics, web site developed by the CDC in January 2011, contains easy-to-read information on genetic disorders, family health history, genetic counseling, and newborn screening.
- Wikigenetics provides credible and up-to-date information on human genetics. It is a web-based encyclopedia on human genetics for the public.
- Talking Glossary of Genetic Terms is designed to help lerners at any level better understand genetic terms; produced by the National Human Genome Institute, a division of NIH (Oct 09).
- National Human Genomics Research Institute (NHGRI) Health section
This new section of the website features genetics and genomics for patients and the public, as well as for professionals. It covers information about genetic disorders and genomic science, plus pharmacogenomics, tools to create your own family health history and a list of online health resources. - Understanding Genetics Guide for Patients and Professionals - A New England Guide for Patients and Health Care Professionals (PDF)
- Genetic Information Nondiscrimination Act (GINA) and Connecticut Protections and Direct-to-Consumer Personal Genomics Services: Information to Consider were released to the public by the Connecticut Department of Public Health Genomics Office in December 2009.
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Prenatal
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Child and Family
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Genetic Education Materials for School Success (GEMSS) This unique website was created for teachers, therapists, counselors, parents and schools so they can best support students with genetic conditions. The aim is to make school a successful and positive experience for all students who have genetic conditions. The website includes information on supporting students with 22q, Down syndrome, Fraile X, MCAD, PKU, sickle cell disease, VLCAD, and Williams syndrome, but more conditions will be added over time. -
An Educator's Guide to MCADD is a helpful resource parents may want to share with schools. It was developed under the supervision of Susan Waisbren at Children’s Hospital Boston, with help from elementary school teachers, parents of children with MCADD, and the FOD Family Support Group. - CDC's new Fragile X Syndrome Website (July 2011) includes easy to read information, important data and publications, overview of CDC's work regarding Fragile X, and statistics.
- Effective Healthcare Program at the Agency for Healthcare Research and Quality (AHRQ), recently released a plain-language guide for parents of children with Cystic Fibrosis regarding human growth hormone (see Guides for Patients and Consumers).
- Preserving The Future of Newborn Screening is a coalition of parents, health care workers and others working towards better education about newborn screening, and about its benefits to society and the health of our children.
- SibLink at Hasbro Children's Hospital/Rhode Island Hospital addresses special needs of brothers and sisters of children with medical, developemental and psychiatric problems. Enrolling now for winter & spring 2011.
- Catalyst Center: Improving Financing of Care for Children and Youth with Special Health Needs
- Children with Down Syndrome: Families are more likely to receive resouces at time of diagnosis than in early childhood; report from the Government Accountability Office (Oct 2010)
- "Direct-to-Consumer Personal Genomics Services: Information to Consider developed by the CT DPH Genomics Office
- Centers for Disease Control special feature: Ten Things You Need to Know About Birth Defects
- Family Health History Awareness- slide presentation developed by the NEGC Dissemination, Education and Marketing (DEM) Work Group. This includes a comprehensive slide library and training/public awareness modules to meet the needs of varied target audiences (e.g. general public, nurses, social workers, public health professionals, students). The new modules were field-tested and were made available in April 2009.
- My Family Health Portrait - an online tool from the Surgeon General to help you organize your health information into a family tree, is available through the Brigham & Women's Hospital website in multiple languages.
- Understanding PKU and Treatment Options- Dr. Susan Waisbren, Children's Hospital Boston, was featured in this webcast for "Patient Power" (interviews with medical experts hosted by Andrew Schorr), on May 8, 2008.
- Understanding the Genetics of Deafness, A Guide for Patients and Families - Harvard Medical School, Center for Hereditary Deafness; for the Spanish translation of this guide, click on Comprendiendo la Gene'tica de la Sordera, Una Gui'a para los Pacientes y sus Familias.
- Genetic Testing for Hereditary Breast & Ovarian Cancer: What You Should Know - Connecticut Department of Public Health; this site contains information about how to find genetic counselors in New England, and discussions about when genetic testing is appropriate.
- Genetic Alliance Monograph Series: on-line publications designed to give access to the incredible work of disease-specific advocacy organizations.
- Link "Connecting the Dots: A guide to finding services for people with disabilities in RI." A publication of Family Voices and Rhode Island Parent Information Network.
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Medical Home
- Family Care Plan
In 2009-2010, the Medical Home group piloted a communication tool designed to improve shared care between families, primary physicians, and specialists. Unfortunately they weren't able to test it out as much as hoped, so this year they are continuing to pilot it at Children's Hospital Boston with Susan Waisbren, PhD. They are looking for additional informal feedback. Could you help? If your child has a primary doctor and specialist(s), you may be able to introduce the use of this form to them! Families may, in fact, be more likely to drive the use of this tool more than anyone else. Please contact Karen Smith for additional information. Download the Family Care Plan Now - Build You Own Care Notebook - The National Center of Medical Home Initiatives for Children with Special Needs developed this tool to help families keep an ongoing record of their child's services, providers and notes. Parents are encouraged to be the experts on their child's care.
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Transition from Pediatric to Adult Care
- Got Transition? The National Health Care Transition Center is a HRSA funded initiative of the Center for Medical Home Improvement (CMHI), Concord, NH. Their updated web site was launched in March, 2010 and will soon have tips and tools to help...
- youth navigate towards the care and services needed in adulthood!
- families anticipate and plan to support their youth’s independence!
- pediatric and adult primary care and specialty care teams support a seamless transfer!
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Transition Tookit was developed to help teenagers and young adults prepare for transitioning to the adult health care system. Visit the New England Consortium of Metabolic Programs website at Children's Hospital Boston, where the toolkit was developed with Innovative Project award funding from the NEGC, to see the tools. -
The PKU Toolkit for Transition to Adult Care - Children's Hospital Boston, Applied Nutrition & The New England Consortium of Metabolic Programs; this interesting and user-friendly site offers a complete guide for PKU and its treatment, and can help you with a "diet for life"! - Transition: Psychosocial Considerations- power point presentation (PDF) by Dr. Susan Waisbren, Children's Hospital Boston; Transition Work Group Chair; this easy-to-grasp and upbeat overview of issues related to transitioning to adult care would be valuable for teens and parents alike.
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Leadership
- New Hampshire Leadership Series - goal is to support self-advocacy and leadership skills for individuals with disabilities and their family members who wish to affect change at a personal, community, and statewide level to support the full inclusion of individuals with disabilities in their schools and communities.
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National Centers
http://www.medicalhomeinfo.org/ This resource is for health professionals, families, and anyone interested in creating a medical home for all children and youth. http://www.gottransition.org/ Assisting youth and families with health care transition. http://www.fv-ncfpp.org/ Providing leadership in helping families of children and youth with special health care needs / disabilities and professionals partner to improve care.
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