Apr 9, 2022

RJ is a 6-yr-old boy who lives in northern Mississippi with his parents and four siblings (two older and two younger.) 

Medical History

Elisa, RJ’s mother, had a normal pregnancy but went into labor a month early and gave birth at 36 weeks. For the first couple of days, RJ struggled with breastfeeding, so he was admitted to the NICU in order to ensure he was getting enough milk. While there, doctors thought he may have a tiny hole in the upper back part of his throat, possibly indicating a cleft palate. Upon closer observation (and lots of prayer!), none was found, although it was noted that he did have a very high palate. He continued to breastfeed when possible and took pumped breastmilk through a tube in his nose to supplement his intake. Slight jaundice was noticed but corrected relatively quickly, and doctors mentioned the possibility of something genetically wrong but they weren’t sure. 

He was released from the hospital after about 2 1/2 weeks when he proved to be able to nurse well enough. I was told that often preemie boys have trouble learning how to nurse and breathe at the same time and when we left the hospital, it wasn’t apparent that there was anything else wrong. As he grew, we noticed that RJ was developmentally behind and pretty small for his age but weren’t too concerned, since he was born a month early. He was also much more likely to gag on certain foods and still struggled with weak oral muscles. When he was several months old, we voiced our concerns about his apparent weakness and developmental delay with his pediatrician, who referred us to a physical therapist. She worked with him to strengthen muscles and was also instrumental in us seeking further genetic testing, as she was pretty sure there was a genetic reason underlying his delays. The first round of genetic tests came back with nothing unusual, so we thought perhaps this wasn’t the route to take. In addition to receiving physical therapy, he also started occupational therapy to help with various goals and tasks that would help with his daily life. It took him longer to sit up on his own, roll over, crawl (at 14 months) and walk (17 months). 

It wasn’t until we became aware of how severe his speech delay was that we considered further genetic testing because our insurance wouldn’t cover speech therapy unless he had a significant diagnosis. A more thorough genetic test revealed in 2020 that RJ had STAG-1 related disorder and that it was likely the cause of all of his delays. He was also diagnosed with Autism, although it doesn’t present itself in many of the typical ways. RJ is almost overly social and sometimes doesn’t seem to understand social norms.  Because there were cases of other children with STAG-1 who also had seizures or heart problems, we had some scans and tests done on his brain and heart, which came back fine. He has never had seizures and his doctors think that it’s probably unlikely for that to happen. On the surface, RJ seems like a normal child who is just small for his age has a bit of a unique gait to his walk, and is very delayed in speech. He understands a lot more than he can say, and his siblings can interpret what he means most of the time. We have had several different speech therapists over the years and he has been diagnosed with Childhood Apraxia of Speech and now receives PROMPT therapy, which is helping him form more words. Potty training has been more difficult and delayed as well, but he has proven capable. 

About RJ

As far as his personality, RJ is a super sweet boy who is very affectionate, emotionally in tune with those around him, and loves to snuggle and play with others. He is very social and engages with others well, making good eye contact and smiling often. He has always been easygoing, does what his therapists ask, and in general, really enjoys the company of other people and is quick to make friends. 
We are very fortunate that RJ seems to have a very mild case of STAG-1. The only other diagnoses he has had are developmental delay, hypotonia, apraxia of speech (and likely motor apraxia as well), exotropia (eyes not focusing on the same thing), and Autism. RJ has been prayed for by many and we’re thankful that the Lord has blessed us with this sweet, special boy who is a joy to all who know him.