July is National Fragile X Awareness Month. As we head into the last full week of this month, we dedicate this post to educating readers about Fragile X Syndrome.
According to the National Fragile X Foundation:
Fragile X is a group of genetic disorders caused by a mutation in a single gene on the X chromosome.
Fragile X syndrome is the most common inherited cause of intellectual disability and autism and can range from mild to profound impairment.
People can be carriers of the FMRI gene that causes Fragile X without having any symptoms of the disorder
Those with Fragile X are at risk for developing:
Fragile X-associated Tremor/Ataxia Syndrome(FXTAS), a nervous system disorder that causes tremors, ambulatory difficulties, and trouble with balance, memory, and behaviors especially among older males. Fragile X-associated Primary Ovarian Insufficiency(FXPOI), a malfunction of the ovaries that can cause early menopause and even infertility.
Fragile X and Autism Spectrum Disorders present similarly in some cases.
Similarities include:
hand flapping
social anxiety
poor eye contact
sensory challenges
About 2-3 percent of children with autism spectrum disorders also carry a diagnosis of Fragile X. Fragile X is the most common genetic cause of autism. Both disorders are more commonly diagnosed in boys than in girls. Boys with Fragile X are typically more severely affected than girls.
Differences include:
Their genesis: Fragile X is a genetic disorder with a known cause and can be diagnosed with a blood test. Autism is a behavioral diagnosis, and in most cases, its cause is unknown.
Boys with Fragile X sometimes exhibit distinctive physical characteristics such as “large ears, long face, soft skin and (post puberty), large testicles. Connective tissue problems may include ear infections, flat feet, high arched palate, double-jointed fingers and hyper-flexible joints,” says the National Fragile X Foundation. These physical characteristics are not seen in boys with autism who do not have Fragile X. People with Fragile X are generally more intellectually impaired than people with autism who don’t have Fragile X.
Hope for individuals with Fragile X Syndrome
Although Fragile X Syndrome can be extremely debilitating, the outlook for people with Fragile X and their families has become a good deal brighter since the completion of the Human Genome Project in 2003.
According to a 2016 N.Y. Times article by Gardiner Harris, back in the 1980s, scientists were aware of only a “handful” of genetic diseases. Yet, in the years since the Human Genome Project, they have identified “roughly 5,800” genetic diseases. In response to their discoveries, thousands of charities have been established with the goals of researching and curing these diseases. Many of these charities were founded by parents and family members of affected children.
More than 20 years ago, after her son Andy was diagnosed with Fragile X, Katie Clapp founded a venture philanthropy that raises millions to seek a cure for the syndrome that affects her son and so many others. As Gardiner points out, Clapp and families of people with other genetically-based conditions are no longer content to simply raise awareness or find ways of coping with their loved one’s disabilities.
“Driven in part by the sequencing of the human genome…thousands of foundations are springing up and trying to [find cures]. The larger and more established ones, such as the Alzheimer’s Association, Michael J. Fox Foundation and the Spinal Muscular Atrophy Foundation, are investing millions not only in the search for specific cures but also for the biological tools and biomarkers any researcher or company could use.”
Though Clapp’s foundation, the “Fraxa Research Foundation is smaller, it’s having an impact.
According to the philanthropy’s website, FRAXA has funded more than $25 million in biomedical research, yielding discoveries that are changing the lives of families coping with fragile X.” Along with funding research, FRAXA runs scientific meetings, advises pharmaceutical companies large and small, and provides education on college campuses, community settings, and international conferences.”
What’s more, research into FXS may also yield important information about other disorders such as autism and Alzheimer’s Syndrome and other developmental disabilities.
