Earlier this year, Rabbi Ilana Garber found out her 1-year-old son has a genetic disorder known as Fragile X Syndrome. She was kind enough to share about this difficult experience with us, from the day of his diagnosis to her current fight to improve prenatal testing questions.
I understand that your 18-month-old son was recently diagnosed with Fragile X syndrome. What does that diagnosis mean? How are your son’s behaviors different from other children?
Fragile X Syndrome is a genetic disorder. Unlike most genetic diseases (like Tay Sachs, for instance), with Fragile X, it’s not about two parents being carriers of a disease; instead it’s about one parent having a mutation on the X chromosome. I am a carrier of a pre-mutation of the gene (which has certain health implications for me down the road) and my son has over 200 repeats of the mutation, so he has Fragile X Syndrome (FXS). Read the rest of this entry →