My greatest reward from my journey with 2 boys (Matthew is 15 and Benjamin is 9) with Fragile X is that my mantra has become “There’s nothing we can’t do!”
Since Matthew’s diagnosis in 1999 at age 2.5, we have been able to trace it through 3 generations of Fragile X…puzzle pieces that finally all made sense. We have a slew of affected relatives, some carriers, some affected, some affected with FX and Autism…we have young children and older adults with it in our extended family.
Having unknowingly grown up around FX, with my older brother and younger sister affected, I knew that it was up to me to make the most of this journey once I had children of my own that are affected.
We continually push our boys to be all that they can. It’s often the harder choice, but there is no other option. It took many years, many different ideas, continual fast thinking and never giving up, to get where we are today. We are stronger than we ever knew we could be.
These boys are remarkable. They have each reached so far in such a short time. Matthew recently graduated from Marlboro Middle School and will be a Freshman at Freehold Borough High School in September.
He is a sensitive, thoughtful and charming handsome young man. He's having an excellent summer at Marlboro Recreation camp, with excellent supports in place, it's been our best summer camp experience to date. Yesterday, on their trip to Great Adventure, he rode Kingda Ka for the first time, something we never thought he'd be able to do, due to anxiety and fear of high places.
Benjamin is entering the fourth grade at Robertsville Elementary. His third grade year was most memorable in that he mastered all 50 states and their capitals. He loves geography, loves going to school. He loves One Direction and Big Time Rush, and has seen both bands in concert. Is that so special? Maybe not, but here's a kid who couldn't tolerate bright lights and loud noises a few years ago. He is a social, happy, very funny little boy. He’s cute too!
What is Fragile X?
Fragile X syndrome is the most common cause of inherited intellectual disability and the most common known genetic cause of autism or autism spectrum disorders. Can cause learning and behavioral challenges ranging from mild to severe. The full mutation of the syndrome occurs in approximately 1 in 3600 to 4000 and in females is approximately 1 in 4000 to 6000 equaling over 100,000 Americans living with Fragile X Syndrome.
Fragile X is caused by a change or mutation in a gene on the X chromosome. The single-gene responsible for Fragile X Syndrome is called the FMR1 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 large 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 intellectual disability and the most common known genetic cause of autism or autism spectrum disorders. Can cause learning and behavioral challenges ranging from mild to severe.
- Fragile X associated tremor/ataxia syndrome (FXTAS) An adult-onset condition affecting mostly males that causes tremor and affects balance and memory in some "carriers" of the Fragile X gene. It is often mistaken for Parkinson's, Alzheimer's, and other conditions.
- fragile X-associated primary ovarian insufficiency (FXPOI) A condition of decreased ovarian function that can lead to reduced fertility or infertility, irregular or absent menstrual periods, and early menopause in some female "carriers" of the Fragile X gene.
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 33% 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. There are currently several major pharmaceutical companies currently working to develop breakthrough treatments for fragile X syndrome (FXS) and other autism spectrum disorders (ASD) with several treatment options currently in clinical trials.
Where to turn for help:
The first outreach for many families after the diagnosis of Fragile X in their family is to the National Fragile X Foundation. Established in 1984 the National Fragile X Foundation has been helping individuals with Fragile X, their families and professionals, responding to thousands of requests every year for emotional support, referrals and information. They also host the largest International Fragile X Conference bringing the leading professionals, clinicians, therapists, researchers and parents together every other year. The next conference will start on July 25, 2012 in Miami, FL.
Raising two children with Fragile X Syndrome is nothing I had ever imagined. Though it's very difficult to come to grips with, once you do, there's nothing you can't do. That's how I feel. We're invincible. We never stop trying to raise awareness. We will never stop trying to get people to stop using words like "retarded." We just won't ever stop. I continually "Pay It Forward" by sharing time and knowledge with newly diagnosed families as leader of the Fragile X Association of New Jersey. It's a rewarding way of giving back. My goal for the future are for my boys to be happy and productive members of society, in a community that supports them. This WILL happen.
For more information on Fragile X Syndrome and the other Fragile X-associated Disorders to go to www.fragilex.org