A Short Life with Tay Sachs & Advocating for Preconceptual Carrier Screening

Shannon’s son James was a little slower than most babies to meet his developmental milestones, but it wasn’t until after he had his first seizures that he was finally diagnosed with Tay-Sachs, a rare, inherited, autosomal recessive condition that progressively destroys nerve cells in the brain and spinal cord. Shannon and her husband had a total of just 27 months with James. Shannon shares how after receiving the diagnosis, she learned to live in the moment and appreciate the time she had with him. Her experience has also made her an advocate for offering patients expanded carrier screening—ideally before pregnancy!

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Links and Resources

National Tay Sachs and Allied Diseases Association

Cure Tay-Sachs Foundation

Connect with Shannon on Instagram: @shannonmiller9

Book recommendation: It’s OK that you’re not OK: Meeting Grief and Loss in a Culture That Doesn't Understand, by Megan Devine

More from parents of children with Tay Sachs

Carla Steckman’s Blog

Interview with Carla on the Call Your Mother podcast: ”A Mother, Not a Hero”

Three Short Years: Life Lessons in the Death of My Child, by Becky Benson

The Still Point of the Turning World, by Emily Rapp

Are you pregnant or planning a pregnancy and wanting to speak with a genetic counselor?

Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. You can browse our Network of genetic counselors or go straight to our scheduling page to book an appointment. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

More resources from Grey Genetics

Grey Genetics News Corner blog post: Expanded Carrier Screening & Frequently Asked Questions

Prenatal Genetics Resources Page

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Read other Patient Stories on the Grey Genetics Patient Stories Page

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Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Schedule a genetic counseling appointment with a genetic counselor specialized in your area of concern.

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