July 21, 2011
Fragile X Awareness
For many people, July 22nd is just another Friday on the calendar but for one Colorado family, July 22nd has significantly more meaning. July 22nd has been designated as National Fragile X Awareness Day and for Ben and Lisa Hinnen, it’s one more opportunity to tell people about the Syndrome that affects their son, Pierce.
Pierce was diagnosed with Fragile X Syndrome in October 2006. "I don’t know how to describe in words how I felt when I heard the diagnosis. Devastated. Sad. Guilt. Anger. Mourning for our son’s future and even mourning for Ben’s and my life that had suddenly changed," says Lisa. After a few weeks and even months, the Hinnen's did their best to accept what life had dealt them.
Once life "normalized," the Hinnen’s with the help of some friends and the University of Denver, decided to start a local chapter of the National Fragile X Foundation, what is now known as Colorado Fragile X. Colorado Fragile X is committed to supporting and funding increased awareness, improving education of professional caregivers, and communicating to the local Fragile X community on progress of these efforts.
Today, Lisa says, "We see Pierce as a special gift to our family. There are exciting new treatments for Fragile X and we know that his future is bright. We are thankful that we can give him a loving home as there are many children with disabilities that go untreated and often undiagnosed their whole lives."
What is Fragile X?
Fragile X Syndrome is the leading cause of inherited mental impairment and the leading known cause of autism. The impairment can range from learning disabilities to more sever cognitive or intellectual disabilities. The full mutation of the syndrome occurs in about 1 in 3,600 males and 1 in 4,000-6,000 females equaling over 100,000 Americans living with Fragile X Syndrome like Parker and Allison. Ongoing studies show that as many as 1 in every 129 women and 1 in every 350 men are carriers of the gene, in most cases unknowingly.
Fragile X is caused by a change or mutation in a gene on the X chromosome. The single-gene gene responsible for fragile X syndrome is called the FMR-1 gene. The mutation is in the DNA of the X chromosome. The gene appears in four forms: normal, premutation (or carrier), mosaic, and full mutation. In carriers there is an unstable mutation that can expand in future generations to the full mutation that is fragile X syndrome.
Physical features such as a long face and prominent ears are sometimes seen in individuals with fragile X syndrome, often times becoming more pronounced after puberty. Other symptoms include speech delay, anxiety, being distractible and impulsive, with symptoms of attention deficit hyperactivity disorder or attention deficit disorder and aggression. Other stereotypical behaviors such as hand flapping and chewing on clothing or objects may be connected to sensory processing problems or anxiety.
Girls with the full mutation, who are typically less affected, can have behavioral and emotional difficulties, shyness, anxiety, depression and difficulties with social interaction.
Fragile X-associated Disorders
Over one-million Americans carry the Fragile X mutation and have or at risk for developing a Fragile X-associated Disorder.
Fragile X-associated Disorders are:
- Fragile X Syndrome (FXS)
The most common cause of inherited mental impairment and the leading known cause of autism, which occurs in both males and females with males tending to have more severe symptoms. FXS causes behavioral, developmental and language disabilities.
- Fragile X Associated Tremor/Ataxia Syndrome (FXTAS)
an adult onset (over age 50) progressive neurological condition causing tremors, balance and memory problems, primarily in male carriers which can lead, in some instances to a shortened life expectancy. FXTAS is sometimes misdiagnosed as Parkinson's or Alzheimer's disease.
- Aragile X-Associated Primary Ovarian Insufficiency (FXPOI)
a cause of infertility, early menopause and other ovarian problems with women who are carriers.
The Relationship Between Fragile X and Other Conditions:
Fragile X syndrome provides a unique window into understanding autism, including the role that genes play in autism because it is the most common known single gene cause of autism. Up to one-half of all children with fragile x syndrome also have autism or an autism spectrum disorder.
Research into Fragile X-associated Disorders may also help shed light on other medical conditions such as Alzheimer's, Parkinson's, reproductive problems in women and other medical conditions that may have a genetic basis.
The Future is Bright
For the Hinnen family, Fragile X is a part of their daily life. While every day has its ups and downs, they look to the future with hope. “All of our children, and especially Pierce, have taught us so much about life, understanding, compassion and unconditional love.” Says Ben, "Our goals for the future are the same as every other parent, we want our children to be a happy and productive member of society, in a community that supports them. And this, I know, will happen.”
Ben is running the Wild West Relay, a 200 mile relay race, with 21 other team members through the Colorado mountains in August to raise awareness and funds for Fragile X. You can support him and Team Fragile X by donating at www.firstgiving.com/NFXF. You can also learn more about Colorado Fragile X at www.facebook.com/coloradofragilex.