- Journey Through Diagnosis Guide
The Purpose of This Guide: The purpose of this guide is to provide information and support to families whose child has been identified with a genetic condition. This guide is written from the family perspective and includes information Region 4 Midwest families felt was important when facing a new diagnosis. The material includes advice and tips to help “guide” families on their journey.Who Created This Guide? Multiple families who have a child (or children) with a genetic condition wrote this guide. Some of those families learned of their child’s diagnosis prenatally, some through newborn screening, while others waited months or even years. Their children are affected by a wide variety of conditions including spinal muscular atrophy, cystic fibrosis, PMM2 congenital disorder of glycosylation, sickle cell disease, Pelizaeus-Merzbacher disease (PMD), MECP2 duplication syndrome, metachromatic leukodystrophy, Rett syndrome, phenylketonuria (PKU), Down syndrome, trisomy 18, chromosome 2p deletion, DYRK1A syndrome, and others. They share what they have learned and want to pass on to others from their experience. - VIDEO on Your Genetics Appointment https://youtu.be/z7-Yo-QsTPk When you or your doctors decide that a genetics appointment may be useful for your family, you may have questions about what will happen at the appointment and how going to the appointment could help your family. In this video, several families from our region talk about their experiences with genetics appointments and why they are glad they went to the appointment. You’ll also hear from some of the genetics providers from the region about what they hope that families gain from coming to their genetics visits.
- VIDEO on Receiving A Diagnosis: The Journey from Cope to Hope from the Midwest Regional Genetics Network https://youtube.be/pup6fB3gyMg
Parents often feel a range of emotions when they first find out their child has a genetic condition/disability. This video will show how they were able to move from initial feelings of frustration, fear and helplessness to moving forward to a place of action. A special thank you to the Region 4 Midwest Genetics Collaborative family representatives who agreed to be filmed and share their stories. - Gene-Based Diagnosis 101: How to Successfully Navigate the Diagnostic Journey https://resource-hub.globalgenes.org/kb/article/298-gene-based-diagnosis-101/
- CDC’s Learn the Signs. Act Early. (LTSAE) program has collaborated with the American Academy of Pediatrics (AAP) to develop two new free resources – a Family Friendly Referral Guide and a Clinician Guide to support developmental surveillance. The Family Friendly Referral Guide is a fillable PDF that focuses on supporting families and caregivers whose child has a developmental concern and illustrates the importance of following through with developmental referrals. Pediatric practices can customize this guide with information about local referral resources and use the guide to support families and caregivers in understanding what to do if a developmental concern has been identified. The Clinician Guide highlights the developmental surveillance component of identifying strengths, risks, and protective factors. Only 30% of families/caregivers with children under 5 years report being asked by a health care provider if they had any concerns about their child’s learning, development, or behavior according to data from the 2016 National Survey of Children’s Health. This resource will help pediatricians recognize the value of established patient relationships before, during and after the development process. For more resources, visit AAP’s Developmental Surveillance and Screening page.
- Resources for those with Undiagnosed Conditions
- Undiagnosed Disease Network (UDN) (Funded by the NIH)
About the UDN - The Genetics and Rare Disease Information Center (GARD)
Tips for the Undiagnosed - Family Support Organizations:
Syndromes Without A Name (SWAN)
Rare and Undiagnosed (RUN)
- Undiagnosed Disease Network (UDN) (Funded by the NIH)