Fragile X: The Leading Genetic Cause of Autism

07.09.2019 - By Patient Stories with Grey Genetics

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When Missy Zolecki learned that she had a family history of Fragile X syndrome (FXS), she sought out carrier testing, thinking that she and her fiancé would not have children if she learned she was at risk for having a child with FXS. Fast forward 21 years later, Missy and her husband have been married 21 years and have three children, the oldest of whom is 18 years old and has Fragile X syndrome. Missy discusses how her religious faith influenced her decision making process around the option of IVF and Preimplantation Genetic Diagnosis (PGD), available only under a research protocol in 2000. She shares how she moved from anger at medical errors to appreciating the people and the opportunities that her son’s diagnosis of FXS has brought into her life. Missy explains how an accurate diagnosis of Fragile X—the leading genetic cause of autism—can be incredibly helpful in providing optimal care and education for children with Fragile X. She also shares her passion for women being offered preconceptual carrier testing for Fragile X for women, giving them choices and allowing them to make informed decisions.

Links and Resources

National Fragile X Foundation (NFXF)

Connect with the National Fragile X Foundation on Social Media:

NFXF on Twitter: @nfxfoundation

NFXF on Instagram: @nfxfoundation

NFXF on Facebook
NFXF on YouTube

Other Related Resources
CDC recommendations and guidelines related to diagnosis and evaluation of ASD

The CDC on Fragile X

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