Our daughter, Jolene June, was born on July 1, 2016. It was apparent from the very beginning, Jolene would be our firecracker. She was determined to do things her own way and in her own time, but Brett and I started to become concerned/frustrated/dumbfounded/worried as she fell behind on her developmental milestones.
Flash forward to October 2017, and the day we had our answer - Jolene's genetic testing came back with a positive result for Angelman Syndrome. A small piece of her chromosome 15 is missing and - most importantly - the single gene UBE3A has been deleted.
Cue desperate Google search: and thank the lucky stars https://cureangelman.org/ popped up! Here is an organization with a clear and positive mission. We attended the annual Science Summit/Gala only few weeks after hearing the word "Angelman" for the first time in our lives.
The founder, Paula Evans, reached out to us with open arms and positivity that simply lifted our souls. We connected with other parents of newly-diagnosed children and formed bonds unlike any other. Aside from our newly treasured community - we were exposed to all the exciting and groundbreaking research being done to alleviate some of the challenges which AS imposes. Please take a moment and see here: https://cureangelman.org/research
Thanks for reading, friends - and for joining us in our support of FAST, an organization that WILL Cure Angelman Now!!
Love, Kristen, Brett & Jolene