For Families

Journey Through Diagnosis Guideguide

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.

Click here to download the Journey Through Diagnosis Guide

There is no standard definition of Care Coordination. In this video, Region 4 Midwest Genetics Collaborative shares their definition and demonstrates that parents play an important role in coordinating care for their child. Key concepts of care coordination are shared along with examples of why they are important.

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.

Partnering with your Doctor: The Medical Home Approach

Partnering with your Doctor: The Medical Home Approach is a guide to help families connect with their doctor, other medical professionals, and caregivers through a medical home. The guide is intended to be a user-friendly, hands-on tool to support families to move forward in obtaining and providing a medical home for their child. The guide provides definitions, examples, and tools to use when working with a doctor to develop a medical home and demonstrates how to seek culturally effective, compassionate care. It also provides a list of resources and links to organizations that support families and the medical home concept.

Now available in Spanish and Arabic. Please use the links below or contact us at to request hard copies of guide.

Transition Web Application

Transition is a process…not an event, and should involve the family as well as anyone else who provides support and assistance to the youth. Region 4 has created a web application to assist young adults, parents and caregivers and providers, with transitioning to adult care particularly as it pertains to youth with special health care need due to a genetic condition. The easily accessible videos, tools and resources are provided specifically for Youth, Parents or Caregivers, and Providers, as well as general resources for anyone interested in learning about the transition process.

Click on the state links below to find out more information about your state’s genetics programs: