Tell us about yourself and the patient in your life:
Ava just turned 1 and was diagnosed with a de novo SMC1A variant. Her condition is currently unnamed as she’s the first documented case so she’s been given the name SMC1A encephalopathy. She is a working hard to get stronger every day and though she’s still nonverbal and not mobile she is a very sassy and loves to yell. Ava is a super silly little girl who loves to play and be the center of attention.
What is your hope for the future for your loved one:
My hope is that Ava can participate in studies to help bring understanding to this condition and raise awareness for others who have rare genetic disorders. As there’s no precedence for this, all treatments are experimental for her so we hope that we find something that will help her to learn to walk and talk some day. In general, we just want a happy and healthy life for her and to provide as much support as she needs.