• Autism, Dup7, and more

    7q11.23 Micro-Duplication Syndrome Continued

    Ok guys, I feel like I have been on an emotional roller coaster ride since I first wrote my post about Sean’s genetic diagnosis, 7q11.23 Micro-Dup Syndrome or Dup7 for short, a few weeks ago. While writing it, I realized I knew the bear minimum and had the hardest time get my thought together to share. My first thought afterwards was, “How can I fully share our story if I cant fully explain it to myself and family?” I then began asking myself, “Wait what is this 7q11.23 exactly? Why do I keep hitting these brick walls looking for information? Why can’t anyone explain anything to me? Why do I…

  • Running Running Running

    First Race of the Fall Season!

    Hello Hello friends and family!! Ok so I have been a total slacker on posting about my fitness/running journey as of late. As we all know, life gets in the way and plans change from day to day. However! Today was a big day. I ran my first 5k of the season and probably in about a year!! I ran the 11th annual Go Run ( Go for Gynecological Oncology). I know everyone this time of year is starting to plan for their breast cancer walks and runs. Which is so important so please do that!! Likewise, I think we as women need to also be aware of Gynecological cancers…

  • Autism, Dup7, and more

    7q11.23 Micro-duplication Syndrome

    One of the many steps Brent and I had to take to get Sean’s Autism diagnosis was a highly recommended genetic test. Dr. Hans Swingle, Sean’s developmental specialist, explained to us that there are many other complications that can come along with Autism and that a genetic test can help us determine those possible issues sooner rather then later. Brent and I played with this idea for a few weeks since we would have to travel a good 5 hours north to the UAB Genetics Department. We were unsure as to how important of a role it would truly play for Sean. After Sean’s MRI and EEG came back with…