Getting a Diagnosisjwahila2021-04-02T19:15:24+00:00
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 Receiving A Diagnosis: The Journey from Cope to Hope from the Midwest Regional Genetics Network
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. https://youtu.be/pup6fB3gyMg
Resources for those with Undiagnosed Conditions
Undiagnosed Disease Network (UDN) (Funded by the NIH) About the UDN