My Personal X-Man by https://padlet.com/gonzalp3185/dt19gh7engk4 Living with a child with Fragile X Syndrome en-us 2018-06-25 04:57:39 UTC 2018-06-25 07:00:10 UTC hello@padlet.com What is Fragile X Syndrome? gonzalp3185 https://padlet.com/gonzalp3185/dt19gh7engk4/wish/268412486 Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment.

Fragile X is caused by a change in a single gene, the FMR-1 gene. This gene helps create a protein that is needed for healthy brain development.]]> 2018-06-25 05:41:54 UTC https://padlet.com/gonzalp3185/dt19gh7engk4/wish/268412486 How does Fragile X Syndrome effect a child? gonzalp3185 https://padlet.com/gonzalp3185/dt19gh7engk4/wish/268412851 Fragile X syndrome is an inherited, life-long condition that can cause a range of problems. Early diagnosis and treatment can help those affected to reach their full potential. Fragile X syndrome may effect males and females in different ways.]]> 2018-06-25 05:48:23 UTC https://padlet.com/gonzalp3185/dt19gh7engk4/wish/268412851 Fragile X Syndrome in Males gonzalp3185 https://padlet.com/gonzalp3185/dt19gh7engk4/wish/268413159
  • Behavioral characteristics can include ADD, ADHD, autism and autistic behaviors, social anxiety, hand-biting and/or flapping, poor eye contact, sensory disorders and increased risk for aggression.
  • The majority of males with Fragile X syndrome demonstrate significant intellectual disability including a range from moderate learning disabilities to more severe intellectual disabilities.
  • Physical features may include large ears, long face, soft skin and large testicles. Connective tissue problems may include ear infections, flat feet, high arched palate, double-jointed fingers and hyper-flexible joints.
  • Some are very social and friendly, helpful,  have excellent imitation skills, have a strong visual memory and/or long term memory, and a wonderful sense of humor.

    • ]]>     2018-06-25 05:53:52 UTC https://padlet.com/gonzalp3185/dt19gh7engk4/wish/268413159     Fragile X Syndrome in Females gonzalp3185 https://padlet.com/gonzalp3185/dt19gh7engk4/wish/268413358
  • Females may have the same characteristics seen in males but they usually have milder intellectual disability and a milder presentation of the syndrome’s behavioral and physical features.
  • Approximately one-third of females with Fragile X syndrome have a significant intellectual disability.
  • Some may develop moderate or mild learning disabilities, emotional/mental health issues, general or social anxiety.
  • A small percentage of females who have the full mutation of the gene that causes Fragile X syndrome will have no apparent signs of the condition (intellectual, behavioral or physical). These are usually identified only after another family member is identified having Fragile X syndrome.

    • ]]>     2018-06-25 05:57:22 UTC https://padlet.com/gonzalp3185/dt19gh7engk4/wish/268413358     Fragile X Syndrome and Autism Spectrum Disorder gonzalp3185 https://padlet.com/gonzalp3185/dt19gh7engk4/wish/268414491 Fragile X syndrome is the leading cause of Autism Spectrum Disorder worldwide. 

    While Autism Spectrum Disorder is a behavioral disorder, Fragile X syndrome is a genetic disorder. When diagnosed in the same child, Fragile X syndrome is the genetic disorder responsible for the behavioral disorder of Autism.]]>     2018-06-25 06:11:09 UTC https://padlet.com/gonzalp3185/dt19gh7engk4/wish/268414491     Resources for Parents gonzalp3185 https://padlet.com/gonzalp3185/dt19gh7engk4/wish/268415606 National Institutes of Health
    https://www.genome.gov/19518828/

    National Fragile X Foundation
    https://fragilex.org

    FRAXA Research Foundation
    https://www.fraxa.org

    Understanding Fragile X Syndrome: A Guide for Families and Professionals (BOOK)
                    by Isabel Fernandez Carvajal and David Aldridge

    Dear Megan: Letters on Life, Love and Fragile X (BOOK)
                    by Mary Beth Busby and Megan Massey

    I Love Someone with Fragile X Syndrome (Facebook Group)
    https://www.facebook.com/I-love-someone-with-Fragile-X-Syndrome-200419111214/
    ]]>     2018-06-25 06:26:00 UTC https://padlet.com/gonzalp3185/dt19gh7engk4/wish/268415606     Me and My Personal X-Man gonzalp3185 https://padlet.com/gonzalp3185/dt19gh7engk4/wish/268418842 It was very hard to find out your child is not “perfect.” We all dream about having a perfect little boy or girl but its always heartbreaking when you have a child that isn’t perfect…
     
    When our son was born, everything was perfect. Initially, we didn’t have any inclinations that our child was not perfect. Soon, we noticed our baby boy wasn’t meeting the developmental milestones at the same rate as his older sister. We first noticed when he wasn’t lifting his head at the same time as his sister. Then he wasn’t sitting up when he was supposed to be sitting up. We noticed he didn’t have very good muscle tone. He couldn’t get a good grip on things. We spoke to our physician and he agreed that there were some delays in meeting milestone. We went through a lot of family health and genetic history questions but nothing unusual showed up. We went through a serious of genetic testing and found out he had Fragile X Syndrome. I cried…
     
    I knew that there was nothing we could do – it was in his genes. We also tested his sister but she was in the clear.  We qualified for free services through our regional center. I can’t help to think what we would do if we couldn’t get services. We also got in touch with the Fragile X Association of Southern California. This was a great way to meet with other families just like us!
     
    Although I did not get my “perfect” little boy, I got my personal little X-Man, and that’s fine by me.
    ]]>     2018-06-25 06:59:38 UTC https://padlet.com/gonzalp3185/dt19gh7engk4/wish/268418842