The Journey Through Diagnosis

Our unique family-written guide for families with a genetic condition offers advice and tips from those who have gone through it themselves. We share our experiences to help you navigate the challenges and uncertainties that come with a new diagnosis, and offer support and insights to guide you on your journey.

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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. You will hear their voices in the following pages. They share what they have learned and want to pass on to others from their experience.

Acknowledgements

Where Are You On Your Journey?

This guide is intended to empower families. It may not answer all your questions, but it can get you started. There is no right or wrong way to use the information. You can read start to finish, or just the parts of interest. There’s a lot of information, and some of it may not apply to you in the moment. You can come back and revisit sections as needed. You can also download a copy by clicking on the download icon in the top right of the website address bar. The families who created this guide hope you find it useful, making the “journey through diagnosis” a little easier.

Emotions & Relationships

If you are reading this, your child or someone you know has been diagnosed with a genetic condition. Life may be taking a different path than you imagined....

Emotions & Relationships

Finding Support & Information

You may find yourself overwhelmed by the constant flow of health information from many sources, both reliable and unreliable. You need to filter out the ir...

Finding Support & Information

Understanding Medical Care

Your child may require a lot of medical care. You may not have prepared for this before your child’s birth. It can be hard to work with different doctors. ...

Understanding Medical Care

Getting Medical Insurance

You may find that having a child with a genetic condition will suddenly require you to become an “insurance expert.” This can be difficult. Insurance cover...

Getting Medical Insurance

Looking Ahead

Many families have shared that they feel isolated at the time of diagnosis. Looking ahead may be difficult. You may feel fear or uncertainty. It can make m...

Looking Ahead

Tools & Resources

Visit our Resources page to view helpful links and resources or our Glossary page where you can find common terms and their definitions.

View Tools & Resources