Iris Diagnosed: A 1Q21.1 Microdeletion Story

Submitted by Sabrina Kareha
Iris is now three years old. She was born at 37 weeks, and weighed under 5 lbs. From the beginning she had trouble with feeding and weight gain. Doctors did not seem to believe us when we said she threw up all the time despite medicine and diet changes. They treated us like we were looking for attention whenever we brought Iris in to the doctor’s office. It wasn’t until she was at her nine month well-baby visit that we finally saw the main doctor at the practice, a man with a very good reputation. He took one look at my baby and declared that she needed to see a list of specialists immediately. Neurology, Gastroenterology, Otolaryngology, kidney specialists, feeding therapists, developmental pediatricians, eye and hearing exams, MRI and genetics. He said he wasn’t sure what was going on with her, but that it was over his head and he wished he’d seen her sooner.
Iris attended all those appointments and more in the next year. She was diagnosed with microcephaly, severe GERD (she’s on a feeding tube now and growing like a weed!), developmental delay, vision issues, coordination and gait issues, a minor kidney problem, and a lot of very mild things as well. Genetics finally got a hold of her and she was then diagnosed with 1q21.1 microdeletion. All her conditions are considered to be caused by the deletion. Unfortunately there is really not much information for parents, patients, caregivers, or doctors about the condition.
Today, at age three, Iris is walking pretty well. She’s learning ASL and we’re waiting to see if she’ll give us that first word. She’s getting all her nutrition through a feeding tube, but that doesn’t phase her even a little. She goes to a special reverse-mainstream preschool three days a week, and even rides the bus there with the help of her aides. She’s happy almost always, and the light of our lives.