02 8 / 2012
Rethinking the Public Health Implications for Fragile X Syndrome
After watching this news conference, these newsworthy facts stood out to me: We now have the first population study on the prevalence of FX carriers and it shows that 1 out of 209 females and 1 out of 430 males in general population are Fragile X carriers, which is a higher prevalence than previously thought. About 60 percent of people who have Fragile X syndrome have an Autism diagnoses or ASD. In addition, 2-6% of people diagnosed with Autism, have FX syndrome. It’s critical to have FX tested because there is such a close molecular overlap when doctors are evaluating individuals with Autism. Overall, the new research presented in this press conference shows that Fragile X syndrome has much broader ramifications than originally thought.
30 5 / 2012
Congressional internship program helps special students
Rep Gregg Harper has done so many wonderful things for people with special needs. Wish there were more like him in Congress.
25 4 / 2012
10 Things Every Child With Autism Wishes You Knew
Although Sam does not have Autism, he does suffer from many of the same issues kids with Autism have. Well done video so I wanted to share.
24 4 / 2012
Saw this slide during a webinar today and it was a great graphic of the grief a special needs parent experiences regularly. It’s different from the grief we have for a loved one who passes.
22 4 / 2012
How Our Fragile X Story Began
The best place to start our story is with two words. Developmental Delay. These two words put my family down a road we were not planning to be on. Our only child was not hitting important milestones so we sought answers to help us find out what was keeping him from progressing. Fortunately, we were blessed to have our son in a child development center that acted quickly to share their concerns so we could search for a medical reason for Sam’s delays. The answer we finally got after 6 months of actively searching was Fragile X Syndrome, something I had never heard of or knew was part of our genetic make-up. It had been traveling for several generations in the family as carriers without our knowledge because carriers don’t have any symptoms to warrant a genetic test. Approximately 1 in 130 women are carriers of Fragile X and female carriers have a 50% chance of having a child with Fragile X.
Unfortunately, families will carry this pre-mutated Fragile X gene for generations before it is realized, as in our case. Fragile X is also the only known genetic cause of Autism. Not all FX affected individuals have Autism but children with Autism should always be tested for Fragile X.
Developmental delay is usually the first sign that most parents see if their child has Fragile X Syndrome, and we were no exception. Sam needed more support than most his age to sit up, and he crawled a few months later than most. Although he tried to walk at one, he didn’t take his first steps on his own until 15 months. As mentioned earlier, Sam’s delays were mild when he was an infant but got more prominent when he became a toddler. For example, he had little expressive language and wasn’t imitating others regularly until he was 2. When child development professionals evaluated him, we got the formal confirmation he was delayed in gross and fine motor skills, cognition and speech. This led us to genetic testing for answers to the delays and before long, we had the diagnosis of Fragile X syndrome.
A roller coaster of feelings set in from confusion, panic, grief and guilt. After we accepted this new world, we started attending many Fragile X resource groups, clinics, research institutions and conferences across the US to access professionals who understand and study Fragile X.
We are encouraged by the breakthroughs science is uncovering about Fragile X, which in part is possible because of federal investments by the National Institutes of Health and Centers for Disease and Control. Donations to the National Fragile X Foundation are also helping to educate more people about Fragile X and provide resources to families living with Fragile X. Please donate today at fragilex.org and take the time to learn about Fragile X.
13 4 / 2012
Never Too Late? Fragile X Disease Can Be Reversed by a Type of Glutamate Receptor Blocker
Articles like these give me hope for a better life for my Fragile X child.
