The story of Felicia
Lamb Shaffer/ SOX 5 gene syndrome, Microcephaly
Hi, my name is Mila and I am 19 months old. I was recently diagnosed with a partial chromosome 12 deletion, which encompasses 23 genes including the Sox 5 gene. This deletion is consistent with Lamb-Shaffer syndrome, a rare neurological disorder. Currently there are only about 300 people diagnosed in the world with this rare disease. In addition to LSS and the global developmental delay it causes, I also have astigmatism myopia in both eyes and microcephaly. Although I may be faced with many challenges now and in the future, I am still the happiest little girl with the biggest smile. I love to clap my hands when my mommy sings to me, I love to laugh when my daddy tickles me, and love playing with my big sister Arya. I am so beyond LOVED by my entire family and BLESSED with a great support system. I know my parents are doing all they can for me to work with doctors, geneticists, and therapists to help me get the assistance I need and work toward a cure. We are hoping for a miracle, hopeful there will be cure in my life time. I’m proud to be a unique part of that process. I may be little but I am fierce and strong. I have LSS but LSS does not have me.