During Fragile X Awareness month in July, the National Fragile X Foundation has published a month's worth of facts :)
Although I have neglected to post daily, I have condensed the list for my blog... & slightly catered certain portions to our personal experience.
Please take a few minutes to read these incredibly interesting facts about fragile x!
Fragile X encompasses a group of conditions-- that's right, it is not just one!
- fragile X syndrome (FXS)
- fragile X-associated tremor/ataxia syndrome (FXTAS), usually present in male carriers
- fragile X-associated primary ovarian insufficiency (FXPOI), prevalent in female carriers
Everyone has the FMR1 gene on their X chromosome! But of course there is an interference with it, in people with Fragile X.
Fragile X is diagnosed through a DNA sample, most typically from blood, but amniotic fluid & other tissues can also be tested.
Hayden tested positive for fragile x syndrome when he was 17 months of age. His pediatrician at the time referred us to a pediatric neurologist, & the neurologist ordered a blood test.
The number is slightly less prevalent in females, with an estimated 1 in 4,000 - 6,000 having the full mutation of Fragile X.
Although Fragile X syndrome occurs in both males & females, & both can have a wide range of severity, the symptoms are generally milder in females. The reason is because they have a second X chromosome.
I am personally an example of such a case. After Hayden tested positive, I tested positive too. I am not a carrier of the gene but I do have the full mutation. I/ we never knew, because my other X chromosome compensated.
Approximately 2-6 percent of children with autism are diagnosed with fragile X syndrome. And approximately one third of people with FXS, also have autism.
However, so is his AWESOMELY delicious personality! He is an engaging, charismatic guy… he’s funny & fun to be around & gets genuinely excited to see some of his favorite people… he is a cool dressed dude, too—albeit opinionated about his outfits sometimes—but that’s fine by me! The kid cares about the way he looks & he looks good caring ;)
People with FXS generally have many strengths:
Hayden’s great grandfather, my maternal grandfather, had FXTAS but we did not know it at the time. My Poppy was a physician & he was a brilliant man, but there was not enough awareness at that time. The doctor’s all believed that his decline in motor function was caused by excess fluid on the brain, from natural aging. He passed away when I was about 5 months pregnant with Hayden.
Currently there is nothing specifically indicated for the treatment of Fragile X, however, there is a lot of exciting & promising research in the Fragile X field. Many studies are now in human trials, & the great majority of scientists & clinicians are optimistic that new drugs will prove safe & beneficial.
I am the Co-Leader for the New Jersey Fragile X Community Support Group. If you ever have any questions, I can be reached at CentralNJ@FragileX.org
Click here to support H's annual fundraising page, as part of the NFXF campaign! GO TEAM NJ!
The 2015 Virtual 5k Let 'Em Know Event!