A year ago, I had never heard of Fragile X Syndrome. Last August, my grandson, Austin, was diagnosed with a full mutation. We later discovered that he inherited it from Jennifer, who got it from Peggy, who got it from her mom, and we don't know any further than that. Needless to say, it has impacted all our lives. Peggy, Jennifer and I just attended a Fragile X workshop last weekend in Asheville. We learned lots and networked with a bunch of people who are also affected. But mainly, we learned how special Austin and others with this genetic disorder are. For the most part, they are delightful people to know and be around, even though they have difficulty with certain concepts, like math for instance. Now you know, will you please share this info with someone else?
What is Fragile X?
Fragile X is a family of genetic conditions, which can impact individuals and families in various ways. These genetic conditions are related in that they are all caused by gene changes in the same gene, called the FMR1 gene.
Fragile X includes:
fragile X syndrome (FXS), the most common cause of inherited
mental impairment. This impairment can range from learning disabilities
to more severe cognitive or intellectual disabilities. (Sometimes
referred to as mental retardation.) FXS is the most common known
cause of autism or "autistic-like" behaviors. Symptoms also can include
characteristic physical and behavioral features and delays in speech
and language development.
fragile X-associated tremor/ataxia syndrome (FXTAS), a condition which affects balance, tremor and memory in some older male gene carriers.
fragile X-associated primary ovarian insufficiency (FXPOI), a problem with ovarian function which can lead to infertility and early menopause in some female gene carriers.
Some gene carriers do not exhibit any of these features. To learn more about carriers click here.
Fragile X can be passed on in a family by individuals who have no apparent signs of this genetic condition. In some families a number of family members appear to be affected, whereas in other families a newly diagnosed individual may be the first family member to exhibit symptoms.
Since 1984, The National Fragile X Foundation (NFXF) has been helping individuals with Fragile X, their families, and the professionals who work with them. As research into Fragile X continues, our understanding of who it affects and how it affects them will grow. The NFXF is committed to: 1) supporting and funding all efforts that will increase awareness, 2) improving education, 3) advancing research toward improved treatments and an ultimate cure, and 4) keeping the Fragile X community always well-informed about the progress of these efforts.