Day 600 - ❗Updated❗ Genetics Appointment 🧬 (Long Post)
Monday, August 22nd, 2022 Early this morning was out long awaited genetics appointment. We scheduled this appointment in January and August was the first available. This appointment was one of nine that was a required follow-up after we were discharged. Mom met with the Doctor of Genetics back on April 22nd, 2021. James was just past his full term due date (April 8th) and was in the NICU having BPD episodes frequently. We'll post a comparison photo below. He looks like a completely different baby. So we knew going into the appointment that is would be kinda pointless for us, meaning there wasn't going to be any testing or any new answers for us. We had whole exome sequencing testing done back in the NICU and the results were negative. This means that Mom and Dad does NOT have recessive genes for osteogenesis imperfecta. However James carries a part of a recessive gene on his 4th chromosome for osteogenesis imperfecta Type II. This genetics team is trying to get done to the b...