The Fragilest X-planation of the Journey

Many people have asked what challenges my brother, Bobby (who lives with us), has, and they always try to guess. Some say down-syndrome, others say weird things I've never heard of...but no-one ever says Fragile X, and when I say Fragile X, they look at me like I am NUTS. Guess what people, I'm not nuts, its a real condition. Lets talk about it!

Bobby was diagnosed in I believe 1988-1989. However at that time he was just "classified" (yes people, that's the term on the paperwork) as Mentally *incapable* (because I refuse to write the actual word here). My mom sadly did not know much about it, and doctors were still learning. Although Bobby was seen by some of the best, and was taken care of by a children's hospital-they did not give him a great outlook on life. Mom decided she was not letting them decide his future, he would decide it. She pushed the schools hard, she forced the therapists hands, and she challenged them all. Bobby was well into middle school when more genetic testing showed Fragile X and then my mom went for testing, although I do not know her results, I know she is the "Carrier". She didn't know about all the resources that were available, people to talk to, people to relate with, and amazing support groups there are. But, Bobby did graduate high school with his special education degree, and he does live every day to the fullest! Bobby came to live with us on August 26, 2010 (the day after our mother's tragic death). Having him move in was, eye-opening. Mom always said our middle son, Brenton, had a LOT of traits Bobby had. I always told her to shut the heck up (not nice I know-but seriously-who wants to be told that). We started to see things ALL 3 of our boys have in common with Fragile X. The thing with Fragile X is, some are severely affected, and some are mild, some are barely. And all our boys show differential signs, but...yes-they do show signs. It took the better part of a year and half to admit this to ourselves, and then find doctors who have knowledge to test. Our boys are now undergoing the screening and we will know in the near future if they or I am affected. It is good to know, either way, for the whole family and or others futures!

                                                           
                                      








Lets talk about Fragile X now.

ALL of the information below comes DIRECT from www.fragilex.org.
A great site for information!!!!

I am ONLY posting about Fragile X Syndrome today, however in the future I might highlight some of the other things that happen or correlate to Fragile X such as:

• Fragile X-associated Tremor/Ataxia Syndrome (FXTAS)
• Fragile X-associated Primary Ovarian Insufficiency (FXPOI)

  

Fragile X Syndrome

Fragile X syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges and various physical characteristics. Though FXS occurs in both genders, males are more frequently affected than females, and generally with greater severity.

Features of Fragile X Syndrome in Males

• The majority of males with fragile X syndrome demonstrate significant intellectual disability (formerly referred to as “mental retardation”). Disabilities in FXS include a range from moderate learning disabilities to more severe intellectual disabilities.
• Physical features may include large ears, long face, soft skin and large testicles (called “macroorchidism”) in post-pubertal males. Connective tissue problems may include ear infections, flat feet, high arched palate, double-jointed fingers and hyper-flexible joints.
• Behavioral characteristics can include ADD, ADHD, autism and autistic behaviors, social anxiety, hand-biting and/or flapping, poor eye contact, sensory disorders and increased risk for aggression.
• No one individual will have all the features of FXS, and some features, such as a long face and macroorchidism, are more common after puberty.

Features of Fragile X Syndrome in Females

• The characteristics seen in males can also be seen in females, though females often have milder intellectual disability and a milder presentation of the syndrome’s behavioral and physical features.
• About one-third of females with FXS have a significant intellectual disability.
• Others may have moderate or mild learning disabilities, emotional/mental health issues, general anxiety and/or social anxiety.
• A small percentage of females who have the full mutation of the FMR1 Gene that causes FXS will have no apparent signs of the condition—intellectual, behavioral or physical. These females are often identified only after another family member has been diagnosed.

Moving Forward

While individuals with FXS will experience a number of challenges in their lives, given effective interventions and support they can be engaging and productive members of their families, schools, workplaces and communities.

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There is plently more to be read, and lots more to learn, but what I can say is...The Fragile X community of friends, networking, and education have been phenomenal. If my children test negative, I will still have educated myself on my brother-who has full mutation of the genetic condition-and learned many great things for my future ahead. I also will have meet some of the greatest friends, smartest people, and strongest families you could ever know! Learning about Fragile X has made our family dynamic stronger, and our appreciation of life greater! I hope it can do the same for you! Please check out the link to learn more...
                                  www.fragilex.org  or www.fraxa.org