By Fabiola, 1q41q42.12 microdeletion, United States, February 5, 2020
Joaquim is a happy and blessed 2 year old who was diagnosed with microdeletion 1q41q42.12 back in 2018. As a consequence of this deletion he has global developmental delays, he is prone to seizures (so far he's had two), he is slowly starting to sit on his own and combat crawl. We were told he may or may not walk, and will most likely be non verbal all his life and therefore be dependent of others to carry on daily tasks. We have been blessed with a great support network which includes relatives, friends and therapists. We celebrate and cherish each of his inch stones and pray we will witness a miracle in him. A miracle that will defy all odds and allow him to praise and serve God as do we.