A Genetic Diagnosis

A Genetic Diagnosis

An Overview

Families may feel a range of emotions after the diagnosis of a genetic condition. You may feel afraid of what is going to happen next. You may also be relieved to learn what the cause of a medical problem is.

Navigating The Diagnosis

What You Need to Know

If you have received a genetic diagnosis for yourself or a loved one, you may be filled with many emotions. Those thoughts, questions and feelings are a normal part of what is sometimes called D-day for many families. The D standing for diagnosis and the day as one that will be cemented in your mind for a lifetime.

First, take some time to process the information and feelings they elicit. When you are ready, and there is no set time line for this part, here are some resources that can help you learn more about the genetic diagnosis you are living with. 

Have hope, you are not alone. Even if you are the only one in the world with the rarest of the rare genetic diagnosis, you can find community, support and encouragement.

Find Information

Information about the diagnosis can help you prepare for the future. Check out these websites for more information about a genetic condition.

  • Disease InfoSearch is a database of information on genetic conditions. Organizations focused on specific diseases provide and approve the information in the database.
  • Family Voices aims to achieve family-centered care for all children and youth with special health care needs and/or disabilities. They can help you find specific resources in your state for everything from the right medical care to support groups and more.
  • The Genetic and Rare Disease Information Center (GARD) helps people find information about genetic and rare diseases.
  • The National Organization for Rare Disorders (NORD) has a database of rare diseases and the organizations that support them.

 

Find Support

Support groups can connect you with people that understand how you are feeling. You can search the following websites to find a support group for a genetic condition.

  • Parent to Parent USA can help you find emotional support and information close to home! Use their program finder to get find resources and get matched with a parent mentor in your state.
  • On Disease InfoSearch, support organizations serving a specific condition as well as general advocacy and support organizations are listed on the condition page. Detailed information is provided for each organization, including contact information and a direct web link to organization’s website.
  • Looking for others who share your experiences around genetic conditions or rare diseases? The Genetic Alliance Rare Disease and Genetic Conditions Support Community through Inspire is a free, online peer support community designed for individuals with rare diseases and genetic conditions, and their families, friends and caregivers. Simply create a profile (it's free!) and join to find support and inspiration along your journey.
  • PatientsLikeMe allows you to share your experiences, learn from others, and contribute to research at the same time.
  • Read the Genetic Testing Stories Monograph from Genetic Alliance for real stories and personal experiences with different kinds of genetic testing and the process of the diagnostic odyssey

     

Remember, that you’re not alone.

Listen to the stories of these families.

Learn More

Here’s a list of trusted resources that you can use to help you plan for your genetics appointment.

  • Find a Genetics Clinic through ACMG.
  • Learn more about insurance coverage and reimbursement for genetic services at MedlinePlus.
  • Get more information about getting a genetic consultation at MedlinePlus.
Remember, that you’re not alone.

Read family stories at Baby’s First Test.

babysfirsttest.org
Your Genetics Journey

Family History

Family members share genes, habits, lifestyles, and surroundings.

A Genetics Referral

The term "referral" can mean both the act of sending you to another doctor or therapist, and to the actual paperwork authorizing your visit.

Screening

A screening test is performed as a preventative measure – to detect a potential health problem or disease in someone that doesn’t yet have signs or symptoms.

A Genetic Diagnosis

Families may feel a range of emotions after the diagnosis of a genetic condition. You may feel afraid of what is going to happen next. Or, you may have a sense of relief from learning what the cause of a medical problem is.

Contact Info

4301 Connecticut Ave NW Suite 404 Washington, DC 20008-2369

[email protected]

Understand Genes and Genetics

This project is supported by the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services (HHS) as part of an award totaling $400,000 with 0 percent financed with nongovernmental sources. The contents are those of the author(s) and do not necessarily represent the official views of, nor an endorsement, by HRSA, HHS, or the U.S. Government. For more information, please visit HRSA.gov.

About

The National Genetics Education and Family Support Center (Family Center) provides tools and resources to support family engagement and genetic services.

Contact info

4301 Connecticut Ave NW Suite 404 Washington, DC 20008-2369

[email protected]