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MEET BELLA!

Lamb-Shaffer Syndrome ‚Äč

Hi, My name is Jamie. My journey began in 2015 after giving birth to my daughter Isabella. At around 4 months old we noticed Bella was not reaching her milestones and there we began a series of test and visits to different doctors to determine exactly what was happening to our Sassy little girl. Our neurologist referred us to a Geneticist where we began a long road of genetic test after genetic test before we had her diagnoses. On May 23rd, 2018 we finally got that answer. Her whole exome sequencing test came back as a SOX5 mutation Lamb Shaffer Syndrome. My world crashed and my heart broke. I had a hard time listening to our genetic counselor tell us what little was known about LSS. Although we finally had our answer so many more questions popped up like where do we go from here, what does her future look like, can she get married, will she be able to have children, will she be able to drive.  The list goes on and on. I remember feeling scared and very uncertain about everything at that time. I began placing blame on myself, thinking what could I have done differently during my pregnancy or was it a medication I took or was it an environment in which I was living. That list to goes on and on. Now here we are 10 months later and although I have my days of complete and utter worries, our daughter is happy, healthy and thriving. She brings joy to every room she enters and there is not a single person that doesn't adore her. She is our ray of light, our sunshine and she has made me look at the world entirely differently!!! I couldn't be prouder of her. And I couldn't be happier to be apart of the LSS Community!! Our kids are rock stars!!!