We have learned so much since we received Jackson’s diagnosis of Fragile X Syndrome, he has full mutation. We will continue to learn more about Fragile X every day and what it means to us. Sara still needs to be tested; her father was tested and is a carrier. Fragile X is a big part of our lives, but it doesn’t define who we are. To me Fragile X in my house is seeing Jackson as one of the happiest toddlers I know. He is so full of life and love, has more energy and excitement than most, always smiling or laughing, super smart, and has a wonderful stinkerness about him. Jackson has the most beautiful blue eyes that make it so difficult to get upset with him. Jackson is very passionate and loves to do so many things. My favorite is how excited he is to give me kisses and loves when I leave and come home from work every day. My least favorite is how he loves me to push the vacuum around the house even when the floors don’t need to be cleaned. There have been a lot of developmental delays and reaching a milestone happens later than what is considered normal, but all those things have taught me to appreciate everything so much more. Melt downs occasionally happen when Jackson is extremely tired and is having trouble communicating what he needs. There are some restless and sleepless nights, but even with that there are more good days than bad. I am extremely lucky to have Sara and Jackson in my life and I am going to do my best to make sure we live healthy, fun, happy, loving, supportive, enjoyable lives as we all grow old together.
The National Fragile X Foundation defines it more technically than I can. This is from their website:
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
