National Fragile X Awareness Month & Day
July is National Fragile X Awareness Month and the 22nd of July is National Fragile X Awareness Day, which are times to honor those whose lives have been affected by Fragile X syndrome (FXS). During July and on July 22nd, there is also an emphasis on research aimed at developing effective treatments and possibly even a cure for the genetic disorder. During the month-long observance, organizations worldwide advocate for fundraising, educational programs, and other initiatives to better the lives of people affected by FXS. On July 22nd, many iconic landmarks across the globe will likely be lit up in teal blue, the awareness color for Fragile X syndrome.
What Is Fragile X Syndrome?
FXS is the most commonly known cause of inherited intellectual disability and the most commonly known single-gene cause of Autism Spectrum Disorder (ASD).1 FXS occurs due to the full mutation of the Fragile X Messenger Ribonucleoprotein
1 (FMR1) gene on the X chromosome, where the DNA segment “CGG triplet repeat” is expanded more than 200 times. Normally, this segment is only repeated about five to 40 times in those who aren’t affected by FXS. For those with full mutation of the FMR1 gene, the expanded CGG region inactivates the FMR1 gene and prevents it from producing the Fragile X RNA-binding protein (FMRP) needed for brain development, resulting in the signs and symptoms of FXS. Individuals with 55 to 200 CGG repeats are known to have an FMR1 gene permutation and are at an increased risk of developing other Fragile X-associated disorders, such as Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) or Fragile X-associated Primary Ovarian Insufficiency (FXPOI).2
FXS affects both males and females alike, although the symptoms are typically less severe in females.2 This is because males only have one X chromosome, whereas females have two, and the X chromosome that is not affected helps to compensate for the X chromosome that is affected.3 Symptoms of FXS generally include intellectual disability and behavioral challenges such as Attention Deficit Hyperactivity Disorder (ADHD), social anxiety, autistic behaviors, poor eye contact, sensory disorders, and an increased risk of aggression.4 Physical characteristics may include a large face, prominent ears, flat feet, high arched palate, hyperextensible joints, and large testicles in post-pubertal males.5 Individuals with FXS are also often co-diagnosed with medical conditions such as sinus and ear infections, dental problems, and heart murmurs indicative of a floppy heart valve and seizures.1
History Behind National Fragile X Awareness Day
In the 1990s, activist groups fought hard to gain legislative recognition of FXS. 6 Their efforts led to the enactment of the Children’s Health Act of 2000, which expanded research, prevention and treatment activities for FXS and other childhood conditions such as autism, juvenile arthritis, juvenile diabetes, and childhood asthma.6, 7 In response to the Act, the first Fragile X Centers were funded.8 The FRAXA Research Foundation and the National Fragile X Foundation have been the leading organizations in the fight to gain legal recognition of FXS.6 As a result of their efforts, and the efforts of many others, the U.S. Senate passed a resolution in 2000 declaring July 22 National Fragile X Awareness Day.9 The resolution explicitly recognized the importance of raising public awareness about the need for increased funding for research and early diagnosis and treatment for FXS.9 In 2010, the U.S. House of Representatives also passed a resolution expressing support for the goals and ideals of Fragile X Awareness Day and for related awareness and educating initiatives.10 Further, the House resolution supported funding for research into the causes, treatment, and a cure for FXS and recommended that the National Institutes of Health and related member institutes implement a research plan on FXS and associated disorders. 10
How to Observe National Fragile X Awareness Day?
Honor the individuals and families impacted by FXS. Also, take the time to learn more about FXS and then share what you’ve learned with your friends and family so that you may show your support for the greater Fragile X community.6
Other ways to participate include:11
- Attending webinars, seminars, or awareness campaigns on FXS
- Organizing a fundraiser
- Donating to support research
- Encouraging your local clinics to host a seminar
- Adding a frame to your social media profile
Why Is National Fragile X Awareness Month/Day Important?
There is currently no cure for FXS and getting diagnosed as early as possible is important in order for those affected to start receiving therapy and services. Families have access to a wide variety of behavioral and therapy programs, as well as support groups that can assist in various situations. During Fragile X Awareness Month, organizations hope to raise awareness of this condition and push for increased funding for research, support services, and treatments to assist those affected in gaining a higher quality of life. In addition, organizations seek to raise awareness and foster a sense of community among those whose lives have been affected by FXS. The greater our collective knowledge, the more harmonious our lives will be.
- Hagerman RJ. UC Davis Health. Fragile X is a common cause of autism and intellectual disability. Retrieved Nov 8, 2022, from https://health.ucdavis.edu/news/health-wellness/fragile-x-is-a-common-cause-of-autism-and-intellectual-disability/2020/10
- National Human Genome Research Institute, National Institutes of Health. About Fragile X Syndrome. Retrieved Nov 28, 2022, from https://www.genome.gov/Genetic-Disorders/Fragile-X-Syndrome
- National Fragile X Foundation, Prevalence. Retrieved Nov 28, 2022, from https://fragilex.org/understanding-fragile-x/fragile-x-101/prevalence/
- National Fragile X Foundation, Signs and Symptoms. Retrieved Nov 30, 2022, from https://fragilex.org/understanding-fragile-x/fragile-x-101/signs-symptoms/
- FRAXA Research Foundation, What Is Fragile X Syndrome? Retrieved Nov 28, 2022, from https://www.fraxa.org/fragile-x-syndrome/
- National Today, NATIONAL FRAGILE X AWARENESS DAY – JULY 22, 2023. Retrieved Nov 29, 2022, from https://nationaltoday.com/national-fragile-x-awareness-day/#:~:text=National%20Fragile%20X%20Awareness%20Day%20is%20observed%20on%20July%2022,has%20no%20cure%20at%20present.
- Children’s Health Act of 2000, Pub. L. No. 106-310, 114 Stat. 1101. https://www.congress.gov/106/plaws/publ310/PLAW-106publ310.pdf.
- Eunice Kennedy Shriver National Institute of Child Health and Human Development. Centers for Collaborative Research in Fragile X and FMR1-Associated Conditions. Retrieved December 16, 2020, from https://www.nichd.nih.gov/research/supported/ccrfx.
- Congress.gov. “Titles – S.Res.268 – 106th Congress (1999-2000): Designating July 22, 2000 as “National Fragile X Awareness Day”.” July 12, 2000. https://www.congress.gov/bill/106th-congress/senate-resolution/268/text.
- Congress.gov. “H.Res.611 – 111th Congress (2009-2010): Supporting the goals and ideals of “Fragile X Awareness Day”.” July 21, 2010. https://www.congress.gov/bill/111th-congress/house-resolution/611.
- National Day Calendar, NATIONAL FRAGILE X AWARENESS DAY | July 22. Retrieved Nov 29, 2022, from https://nationaldaycalendar.com/national-fragile-x-awareness-day-july-22/