Friday, July 4, 2014

Fragile X Syndrome

      Several years ago a friend's father was exibiting signs of Parkinson's so she began researching symptoms and treatment on the Internet.  She discovered those same symptoms were also related to Fragile X Syndrome which she had never heard of.  As she read more about Fragile X and how it affects families she realized that her extended family had many symptoms of Fragile X including autistic children. The result of her 'stumbling upon' this information caused her to seek testing for herself and her children.  When some tested positive as Fragile X carriers most of her siblings elected to be tested, also.  It was a life-changing discovery.  She sent me a link to this article which I am passing on with the hope it will help others to become familiar with this syndrome.

31 Shareable Fragile X Facts

July is an extra special month for us. Over a decade ago, we announced National Fragile X Awareness Day (July 22). But in the past few years, we realized a single day wasn’t enough, and turned July into an entire month dedicated to raising awareness for Fragile X!
While raising awareness is part of our everyday lives (there is no way to even begin counting the number of times I’ve explained Fragile X while at the grocery store, movies, pool, park, and school!), the great thing about Awareness Month is that we do it together as one loud, unified voice.
31 Fragile X Facts-02There are plenty of ways to join in on the activities. One way is to share “Fragile X Facts” with your friends and family on Facebook, Twitter and other social media accounts.
I’ve made it easy for you by putting together a list of up-to-date facts that you can share throughout the month!
As you read through the list, I am going to make one request. On the last day of this month, please make a promise to your loved one(s): Promise that awareness and education won’t end on July 31. Instead, make it a part of your daily life as we work together to educate the world about Fragile X.
Happy Fragile X Awareness Month, everyone!
  1. Fragile X syndrome is the leading known inherited cause of intellectual disability, and leading known genetic cause of autism.

  2. Fragile X syndrome occurs in both males and females. Females generally have less severe symptoms.

  3. Fragile X syndrome can cause developmental and language delays, learning impairment, and behavioral and mental health issues.

  4. Fragile X is responsible for not just one, but multiple disorders: fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI).

  5. Fragile X-associated primary ovarian insufficiency (FXPOI) is a cause of infertility, early menopause and other ovarian problems in women who have the Fragile X premutation.

  6. Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult onset neurological condition that can cause balance and memory problems, tremors and other neurological and psychiatric symptoms in both male and female Fragile X carriers (though it is more common in males).

  7. As many as 1 in every 250 women are carriers of the Fragile X gene.

  8. All Fragile X conditions are genetic, passed through generations. Often unknowingly.
  9. 31 Fragile X Facts-01
  10. You cannot catch a Fragile X-associated Disorder by being friends with someone who has one. (People with Fragile X make awesome friends!)

  11. Fragile X occurs when there is a change (or mutation) in the FMR1 gene.  Everyone is born with the FMR1 gene, which is on the X chromosome.

  12. The FMR1 gene was identified in 1991. The “job” of the FMR1 gene is to make protein (FMRP) that is important in brain development.  Individuals with fragile X syndrome have a deficiency of this protein.

  13. Females who are carriers of the Fragile X gene mutation have a 50/50 chance of passing the gene mutation to each of their children (they will pass along one of their X chromosomes, either the one with the Fragile X gene mutation or the one without). Males who are carriers of the Fragile X gene mutation will pass the gene to all of their daughters (giving them his X chromosome) but none of his sons (they get his Y chromosome).

  14. FXPOI (fragile X-associated primary ovarian insufficiency) occurs in approximately 22 percent of females with the premutation (carriers). It can cause irregular or absent periods, reduced fertility or infertility and premature (early) menopause.

  15. FXTAS (fragile X-associated tremor/ataxia syndrome) occurs more commonly in male carriers than female carriers. FXTAS is often initially misdiagnosed as Parkinson’s disease, Alzheimer’s or a stroke.

  16. Features of FXTAS (fragile X-associated tremor/ataxia syndrome) include balance problems (ataxia), intention tremors (shaking when reaching for something but not while resting), memory loss, mood instability or irritability, neuropathy (numbness of extremities), and cognitive decline. Females with FXTAS may also have a predisposition to develop autoimmune disorders such as abnormal thyroid function.

  17. Fragile X is diagnosed through a DNA sample, most typically from blood but other tissues and amniotic fluid as well!

  18. More than one million Americans carry the Fragile X mutation, including approximately 100,000 with fragile X syndrome, and are at risk for developing a Fragile X-associated Disorder (FXD).
  19. Common strengths associated with fragile X syndrome are a good visual memory, sense of humor, desire to be helpful, empathic nature, and gift for mimicry. They do well when given visual cues, often love to help and learn from peer modeling.

  20. Approximately 2-6 percent of children with autism are diagnosed with fragile X syndrome.
  21. 31 Fragile X Facts-03
  22. Approximately 1 in 3,600 to 4,000 males and approximately 1 in 4,000 to 6,000 females have the full mutation of Fragile X.

  23. While there is currently no cure for fragile X syndrome (FXS), there are many areas of treatment and intervention that can improve the lives of affected individuals and their families. Given the proper education, therapy, and support, all persons with FXS can make progress.

  24. You are not alone!  There are many families living with an FXD all over the world, and there are many resources at your fingertips!
  25. Interacting with typically developing peers, who exhibit positive behaviors and strong language skills, aides in maximizing the development of those with fragile X syndrome.

  26. Individuals with fragile X syndrome exhibit strong imitation skills. Unaffected siblings make great role models for individuals affected by fragile X syndrome.

  27. Individuals with fragile X syndrome often perform much better than their test scores indicate.

  28. Fragile X affects people of all races and ethnic groups worldwide. At this time there is no cure for Fragile X.

  29. It is estimated that more than 80 percent of those with fragile X syndrome have not been properly diagnosed.

  30. Gross motor development is often better than fine motor development in boys with fragile X syndrome.

  31. Females with Fragile X can have a range of symptoms, from minimal to significant developmental delays and intellectual deficits. They tend to have difficulty with math, reading maps and graphs, picking up on “social cues,” social anxiety, depression and other mental health issues.

  32. About 90 percent of boys with fragile X syndrome are reported to have some type of sensory defensiveness.

  33. Fragile X Fact: (READERS: PLEASE PERSONALIZE THIS ONE TO YOUR OWN LIVES!)  “While today is the last day of Fragile X Awareness month, the fact remains that Fragile X and awareness is part of our daily lives.  I make this promise to my children – Parker and Allison, my nephew – Brad, to my sisters and dad who are carriers and to myself to not stop as this month comes to an end but instead to continue to raise awareness and provide education about Fragile X-associated Disorders every day.”


Holly Usrey-RoosHolly Usrey-Roos
is the Community Support Network (CSN) Program Coordinator has been working with the CSN for the National Fragile X Foundation since 2010. She has two children, a son, Parker and a daughter, Allison, with fragile X syndrome. In 2006 she founded Central Illinois Fragile X, where she currently serves as co-leader of the group. Holly has been a speaker at several conferences, including the NFXF’s international conferences, on topics such as “Working with Your School,” “Media Relations,” “Fundraising,” and “How to Talk to Your Child’s Classmates About Fragile X.”
- See more at:

No comments: