teal

Thursday, November 7, 2013

Fragile X???

    So Ian had a follow up at DDS Tuesday. All went extremely well I thought. We talked a lot about how much he has progressed and some of his repetitive behaviors. They told me I could give him melatonin every night (YAY!) Then I asked about doing more genetic testing. If you dont remember Ian had a genetic panel ran on him when we first started this "journey" 2 years ago. The results appeared normal. The specialist said they ran the test 20 times and 1 time it came back abnormal, and just considered that a fluke. I took the good news and ran with it. I was so so happy to hear this is not a genetic thing. The past year I have really felt the need to go back and revisit genetics. I look at Ian and knowing what I know I just cant dismiss his physical characteristics AND the fact that he has delays...this to me just SCREAMS genetic disorder. The good people at Dennis Developmental agreed and told me they would help us get back in to see genetics again. THEN someone briefly mentioned fragile X syndrome. I had read about it before from the many many times searching the internet trying to find answers about Ian. So I wasnt really suprised when she said that. I also found it interesting that she mentioned it and made a mental note to do some research on it when I got home.....I honestly wish I had not done that!  When I got home I googled fragile X and I read article after article, every site I could find on it. The more I read the more I was convinced this is what Ian has. This is it! No denying it. He has the typical characteristics, theres no denying it. I know it sounds like Im jumping the gun here but my gut and my head tell me it IS fragile X.
    What is Fragile X:  fragile X syndrome (FXS), the most common cause of inherited mental impairment. This impairment can range from learning disabilities to more severe cognitive or intellectual disabilities. FXS is the most common known cause of autism or "autistic-like" behaviors. Symptoms also can include characteristic physical and behavioral features and delays in speech and language development.
 
       I read and read and read. Two things have stuck out to me and have made me a complete emotional wreck these past 2 days. 1. Fragile X is genetic, and he got it from ME! My blood gave this to him. I am walking around with a premutation I had no idea about. Brook probably has the premutation too. One day I am going to have to tell her "hey you may want to think twice about having babies ect ect..." My sisters might have the premutation. It is a terrible terrible terrible horribly  indescribable feeling knowing my genetics did this. Like seriously it tears me up like you wouldn't imagine. Logically that makes no since I KNOW. Of course I didnt know this would happen blah blah blah, whatever! It still is ripping me apart! 2. These boys with fragile x are very sweet then post puberty hits and they become very violent and often times cant live in the home for safety reasons!! WHHHAAAAT? I dont even want to go there right now, emotionally I just cant....
   
     SO Ians genetic appointment is 2/14/2014 (happy valentines) I am praying praying praying it is NOT fragile x but in my heart I know it is....so I just need to be prepared for Dday (diagnosis day) . I know this post is not as cheery as it usually is but its where we are right now. Thank you for reading and if anyone reads this who knows about fragile x or ANYTHING please contact me. chastity_16_99@yahoo.com 501-580-0436. Please pray for my family.