Abby was diagnosed prenatally after the AFP screening and subsequent Amniocentesis. A geneticist sat us down and recommended termination of pregnancy when she was 21 wks gestation. We declined.
Maybe one doesn’t look at Abby and see perfection at first glance, but after closer examination, it is brilliantly clear. Her perfection is in being exactly who God created her to be, and in who we are because of her. She is a unique tool the Lord uses to perfect those around her.
Today Abby is seventeen years old but functions around one to two years of age. Her primary diagnosis is Chromosome 18q- mosaic, but because of the mosaic testing has been a challenge. We identify with the Pitt Hopkins (PTHS) parents because Abby likely is missing the TCF4 gene which is located where her breakpoint is. Due to her mosaicism being around one percent in her blood, it is impossible at this time to test accurately. We’ve been told her neurological cells are likely the greatest affected but not safe to remove and test. She also has a secondary autism diagnosis. Abby presents similarly to Angelman’s and Rhett syndrome.
Practically, Abby is a toddler today. She is ambulatory (she can walk) but unstable. Her dad (the one who keeps us laughing) says she walks like an inebriated grandma (not mine but maybe yours)! She is nonverbal. We have used pics, pecs, and augmentative devices to communicate over the years. We’re on actual pics for choosing toys right now.
Abby can be quite sweet. She typically greets new people with a hand squeeze and/or her head into the tummy for a hug. Hair pulling, scratching, nail digging, throwing, and grabbing are all part of life with Abby. They come and go with sensory seeking and sensory defensive behaviors or you’re not picking up what she’s laying down communication gaps.
We’ve been parenting an infant/toddler for almost two decades while three more sisters have been born and surpassed her. We straddle two worlds… typical and disability. Developmental disability and medical issues are our worlds.
We don’t think God gives special kids to special people, but rather God gives special kids to special parents who need an extra dose of refining. This blog is our invitation for you to join our world to understand disability better or let you know you are not alone… Welcome! Thanks for coming!
God gives special kids to special parents who need an extra dose of refining