Rare Disease Parent Bootcamp

American Gene Technologies

When you have a child, you want the best for that child in every way. For parents of children born with a genetic disorder, a correct diagnosis is the first step to receiving proper care. Unfortunately, there are many logistical and financial complications that make the diagnostic odyssey challenging for rare disease parents. Amber Freed and Brittany Stineman are rare disease moms who have gone through incredible lengths to pursue cures for their sons battling rare diseases. Hear their stories & how they navigated the diagnostic odyssey now!

Episodes

  1. The Diagnostic Odyssey - Rare Disease Parent Bootcamp 1

    08/26/2021

    The Diagnostic Odyssey - Rare Disease Parent Bootcamp 1

    When you have a child, you want the best for that child in every way. For parents of children born with a genetic disorder, a correct diagnosis is the first step to receiving proper care. Unfortunately, there are many logistical and financial complications that make the diagnostic odyssey challenging for rare disease parents.  Amber Freed and Brittany Stineman are rare disease moms who have gone through incredible lengths to pursue cures for their sons battling rare diseases. Amber has single-handedly driven multiple translational treatments forward in an effort to cure SLC6A1, and Brittany has raised over $2 million to fund the development of a genetic therapy that could save the lives of SMARD patients. Amber and Brittany’s unending optimism and perseverance for finding cures comes alive in this bootcamp session as they share inspiring stories of how they navigated the diagnostic odyssey for their children and answer questions from parents looking to start their own journey within the rare disease community.    Holly Snyder is a genetic counselor from Illumina, a leading genomics company applying innovative technologies to the analysis of genetic variation and function. In this session, Holly shares resources and valuable information on genetic testing, genetic testing options, and where to find the right test for you and your family.

    1h 29m
  • 1 Episode

About

When you have a child, you want the best for that child in every way. For parents of children born with a genetic disorder, a correct diagnosis is the first step to receiving proper care. Unfortunately, there are many logistical and financial complications that make the diagnostic odyssey challenging for rare disease parents. Amber Freed and Brittany Stineman are rare disease moms who have gone through incredible lengths to pursue cures for their sons battling rare diseases. Hear their stories & how they navigated the diagnostic odyssey now!

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