Grandma's Corner
Thanks for visiting Emma's website. My name is Candy and I'm Emma's grandmother.
Emma's birth was a wonderful day of celebration for our family. Our family had eagerly awaited Emma's arrival and on November 23, 2003 our beautiful, blue-eyed red head was born.
We brought Emma home the day before Thanksgiving and a month later celebrated Emma's first Christmas. During Emma's first year we celebrated her baptism, her Aunt Jenny's and Aunt Jackie's college graduation, and her Aunt Jenny's marriage to Uncle Jerry. It was quite a year!
At various times through out the year, Emma’s mom mentioned Emma’s delay in meeting milestones, but I kept telling myself and Beth that each child develops differently. However, when Emma was unable to roll over or sit up on her own at 8 months, I suggested we needed to have the doctors do a thorough evaluation.
Emma’s pediatrician ran a blood test, and reassured us it was a precautionary measure as the test usually came back negative. He was checking her CK levels. After waiting several weeks for the results, we were told the results of the tests indicated elevated CK levels and were referred to a pediatric neurologist in Santa Barbara.
Her neurologist ordered a battery of blood tests, one being a FISH test. He sent us home stating it would probably be a month before he would receive the results. Three weeks later, the doctor had the results and called us back up to Santa Barbara. He told us Emma had Angelman Syndrome. He then referred us to Cedars Sinai in Los Angeles so a methylation test could be run to confirm the diagnosis. In December 2004, Cedars Sinai confirmed the original diagnosis and we started what will be a lifelong journey for Emma.
Emma was diagnosed as Deletion Positive which means a portion of her maternal 15th chromosome is missing. While the diagnosis means lifelong disabilities, it does not discourage Emma from thoroughly enjoying life or trying new things. She is currently learning to walk, and with a little more assistance will soon take off with all her family members running behind her.
There are still times when Emma’s diagnosis can overwhelm me, but there is so much more to Emma than AS. She can light up a room with her smile, loves her family unconditionally and has taught me so much about perseverance, patience and tolerance. My hope, as you go through Emma’s webpage, is you’ll find hope and wonder at all our girl has to offer.