6q25.2 Terminal Deletion Awareness

Meet Thea!  She was born with a deletion on the long arm her 6th chromosome, more particularly, from 6q25.2.  Prior to her birth she was diagnosed with hydrocephalus, possible aortic coarctation, possible GI defect of unknown origin, soft cleft palate, choanal stenosis, single umbilical artery and clubfeet.  Thea surprised everyone by coming in a hurry a week before she was scheduled to be induced - and all of the "possibles" didn't actually pan out.  Although she was full term, Thea spent 45 days in the NICU.  Her first surgery, a g-tube placement, was necessary because she has severe feeding issues.  Her second surgery, an ETV with CPC, has been keeping her hydrocephalus in check for almost 18 months and allowed to be discharged from the NICU shortly thereafter.  She was diagnosed with retinopathy, hypotonia and global developmental delay in the NICU.
Since her NICU discharge, Thea has had four additional surgeries - two to correct her retinopathy, one to open her choana and one to repair her soft cleft palate.  She's spent many nights in the hospital due to respiratory illnesses and has spent hundreds of hours in speech, occupational and physical therapy.  She still relies on her gtube to eat and occasionally needs oxygen overnight when she's fighting respiratory illnesses. Thea has a large team of specialists at Texas Children's Hospital that we see regularly - ENT, plastics, neurosurgery, neurology, ophthalmology, retinal specialty, genetics, pulmonary medicine, cardiology, gastroenterology and nutrition, as well as, her pediatrician and her team of therapists here in Louisiana.
Distal 6q deletions, like Thea's, often exhibit some of the following concerns:  feeding difficulties, hydrocephalus, seizures, heart conditions, sacral dimple, minor genital anomalies, strabismus, spinal defect, cleft palate, hydronephrosis, vision defects, umbilical hernia, diaphragmatic hernia and chonanal atresia. However, 6q kids tend to live a full, happy life.
More information on chromosome 6 anomalies can be found at chromosome6.org a research project driven by parents, as well as, the Unique database.  Follow Thea's story at  https://www.instagram.com/theadorathebrave/ and https://www.facebook.com/theadorathebrave
6q25.2 Terminal Deletion Awareness

Leave a comment

Please note, comments must be approved before they are published