Posted at July 8, 2013 | Categories : Awareness Day | 32 Comments

“Yes, You Can Share That!” 31 Fragile X Facts to Post on Social Media

One of the Fragile X Facts we've released on Facebook.

One of the Fragile X Facts the NFXF has released on Facebook.

One of the most common questions I am asked on Facebook about my posts is, “Can I share that?” It’s typically in reference to something about Fragile X: an article, a blog and most recently a “Fragile X Fact.” My answer is always the same, “Yes! Please do!”

Awareness and education is a crucial part of getting the word out beyond our Fragile X world. Without it, there is less understanding, less acceptance, less knowledge and fewer people who are (or could be) helped. As family members of individuals with a Fragile X-associated Disorder (FXD), we all know how it feels to be alone in our journey. We understand how it feels to search for a diagnosis, the overwhelming feeling of relief and disbelief when we get it, and how it feels to have people cross our paths who have never heard of Fragile X.

There are many aspects of living with Fragile X that pull our community together, including the many opportunities to unite as one voice. I’m happy to say that we as a community always embrace those occasions, which makes an impact on the audience that extends outside of the Fragile X community. We take our message, our excitement, and our passion and share it with anyone who will listen.

July is an extra special month for us. We have taken National Fragile X Awareness Day (July 22) and turned it into an entire month dedicated to raising awareness for Fragile X! While raising awareness is for many of us part of our everyday lives (there is no way to even begin counting how many times I’ve explained Fragile X while at the grocery store, movies, pool, park, and school!) the great thing about this month is we all do it together as one loud and unified voice.

For the past few years, I’ve pasted “Fragile X Facts” on my Facebook page each day throughout July. I share these, in addition to posts from the National Fragile X Foundation, blogs and articles by other families, throughout the month as a way to focus attention and raise awareness during this eXtra special month. A couple of days ago my friend Sonja asked if there is a list somewhere of the facts so she could share them too. While it’s simple to go through the NFXF website and come up with a new fact each day (as she and many others have been doing), it’s much easier to have a list ready to share.

So even though we are already a few days into July, I am sharing my list of “31 Fragile X Facts” with you! I encourage you to use them in any order or share your favorites, one day at a time. (Please note that No. 31 is specific to my family and me, so you’ll need to personalize it!) Sharing these facts is a great way to get a little bit of education and awareness out each day during Fragile X Awareness Month. (You can also look for opportunities to use or recycle certain ones at other times of the year.)

As you read through the list, I am going to make one request. On the last day of this month please make this promise for your loved one(s) with an FXD: Promise them that awareness and education won’t end on July 31 and get tucked away for another year, but will remain a part of your life as we work together to educate the world around us about all of the Fragile X-associated Disorders.

Happy Fragile X Awareness Month, everyone!

Fragile X Facts

  1. Fragile X Fact: Fragile X syndrome is the leading known cause of intellectual disability.
  2. Fragile X Fact: Fragile X syndrome is the leading known genetic cause of autism.
  3. Fragile X Fact: Fragile X syndrome occurs in both males and females. Females generally have less severe symptoms.
  4. Fragile X Fact: Fragile X syndrome can cause developmental and language delays, learning impairment, and behavioral and mental health issues.
  5. Fragile X Fact: Fragile X-associated disorders (FXDs) are a group of related genetic conditions that can affect family members in different ways.
    FXDs include:
    fragile X syndrome (FXS)
    fragile X-associated primary ovarian insufficiency (FXPOI)
    fragile X-associated tremor/ataxia syndrome (FXTAS)
  6. Fragile X Fact: 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. (These women are also called “carriers” of the Fragile X gene.
  7. Fragile X Fact: 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).
  8. Fragile X Fact: As many as 1 in every 250 women are carriers of the Fragile X gene.
  9. Fragile X Fact: All Fragile X conditions are genetic, passed through generations (often unknowingly). You cannot catch a Fragile X Disorder by being friends with someone who has one. (People with Fragile X make awesome friends!)
  10. Fragile X Fact: 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 chroomosome.
  11. Fragile X Fact: 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.
  12. Fragile X Fact: Common features of fragile X syndrome include:
    Physical: Large ears, long, narrow face, prominent forehead or chin, high palate (roof of mouth), flat feet, seizures, crossed/lazy eyes, tendency for ear infections, hyperflexible joints.
    Behavioral: Developmental delay, learning and intellectual disabilities, ADHD, hand-flapping and/or biting, poor eye contact, shyness, anxiety, behavior issues, speech/language delay, rapid, repetitive speech, increased sensitivity to sounds, touch, crowds and texture.
  13. Fragile X Fact: 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. Fragile X Fact: 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.
  15. Fragile X Fact: 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.
  16. Fragile X Fact: 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.
  17. Fragile X Fact: 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.
  18. Fragile X Fact: Fragile X is diagnosed through a DNA sample, most typically from blood but other tissues and amniotic fluid as well!
  19. Fragile X Fact: Fragile X testing will determine the “CGG repeat pattern” an individual has.
    “Normal” is 5-44 CGG repeats.
    “Gray Zone” is 45-54 CGG repeats.
    “Premutation” (or carrier) is 55-200 CGG repeats.
    “Full mutation” is more than 200 CGG repeats.
  20. Fragile X Fact: The full mutation (over 200 CGG repeats) causes the FMR1 gene to “turn off” and not work properly, a process called methylation. When this happens the gene does not produce any or enough FMRP, which is believed to be necessary for normal brain development
  21.  Fragile X Fact: Testing for fragile X syndrome should be provided to anyone who has:
    • Clinical symptoms that suggest FXS, FXTAS, or FXPOI.
    • A family history of FXS, FXTAS, intellectual or learning difficulties or autism of unknown cause or infertility.
    • A family or personal history of an FXD.
    • A family member with intellectual disabilities, developmental delay, speech and language delay, autism or learning disabilities of unknown cause.
    • Female infertility issues, including elevated FSH levels, premature ovarian failure, primary ovarian insufficiency or irregular menses.
    • Features of FXTAS, including being over the age of 50, intention tremors, ataxia, memory loss, cognitive decline, personality change, especially in combination with a positive family history of Fragile X.
    • Expressed an interest in or requests Fragile X carrier testing, including women who are pregnant or thinking of becoming pregnant…all these should be tested.
  22. Fragile X Fact: Approximately 1million 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.
  23. Fragile X Fact: 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.
  24. Fragile X Fact: There is a lot of exciting research in the Fragile X field. Many studies are now in human trials, and the great majority of scientists and clinicians are optimistic that new drugs will prove safe and beneficial. While no one considers the current drugs being studied to be a cure, families with children who have fragile X syndrome can be hopeful that significant improvements in learning, communication and behavior will be possible in the next 2-5 years.
  25. Fragile X Fact: Fragile X-associated Disorders (FXDs) can be passed on by carriers of the FMR1 gene mutation who have no apparent signs of an FXD. In some families a number of individuals may be affected, while in other families a diagnosed individual may be the only known family member to exhibit symptoms. Also, in some families, only carriers are identified, with no other apparently affected family members.
  26. Fragile X Fact: Approximately 2-6 percent of children with autism are diagnosed with fragile X syndrome. Given the possibility of a link, it is recommended that all children with autism, both male and female, be referred for genetic evaluation and testing for FXS and any other genetic cause of autism.
  27. Fragile X Fact: 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.
  28. Fragile X Fact: 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.
  29. Fragile X Fact: Individuals with fragile X syndrome are easily anxious and overwhelmed, including during routine transitions, out on a walk, at the store, school or home. This can lead to aggressive behaviors targeted at the parent, running away, or refusal to comply. These behaviors are typically not volitional or willful. Instead, they stem from the serious anxiety and arousal issues inherent to this condition. When hyperaroused, individuals with FXS find it difficult to communicate their feelings and needs of the moment.
  30. Fragile X Fact: You are not alone!  There are many families living with an FXD all over the world, and there are many resources at your fingertips! The National Fragile X Foundation has a comprehensive website, plus staff available to take your calls and LINKS support groups all over the U.S. See www.fragilex.org to get started!
  31. Fragile X Fact: (READERS: PLEASE PERSONALIZE THIS ONE TO YOUR OWN LIVES!) There are three amazingly beautiful young people who changed my life, whom I love with my whole heart. I will continue to learn more from them while helping to raise awareness on their behalf. Parker, Allison and Brad all have fragile X syndrome. My sisters, father and I are all carriers. Ten years ago our lives were changed by this diagnosis.  While today officially “ends” Fragile X awareness month, I promise to them—and to you—to keep learning more, sharing the latest news, connecting families, advocating and doing what I can to be sure one day the question “Fragile what?” can be answered by everyone—every day it is asked.
Author

Holly Usrey-RoosHolly Usrey-Roos
is the LINKS Program Coordinator for the NFXF and founder of the .