Karyotype: 46 XY, del 3q (29)
Emery was born October 5, 2007. I had a fairly normal pregnancy, except that my quad-screen came back as high risk for Down Syndrome due to an unusually high Hcg level. Based on further testing, we knew that he did not have Down Syndrome, and we kind of forgot about that test after that. His birth was fairly uneventful. He was a normal weight (7 lb. 2 oz.) but he was much smaller than his older sister had been.
The first few months of his life, he had a lot of trouble gaining weight. He remained small, under the lowest line on the growth chart until he was 9 months old, at which point he finally started to gain enough weight for the doctors to stop worrying about him. He was born with an inguinal hernia, which was surgically repaired when he was 6 months old.
Emery was a little late reaching most of his infant milestones, but still in the “normal” range for most of them, so the doctors did not think that he had a problem for a long time. When he was 12 months old, he still could not swallow any food that was not soft or pureed. At that point, we were referred to the early intervention agency for a speech/swallowing evaluation. We then discovered that he had unusually high muscle tone, which they thought was the cause of his swallowing difficulties – his neck and throat were not relaxed enough to swallow well. He stared PT, OT and speech at that time, but the doctor did not feel the need to do any further testing.
When Emery was a little past 2 years old, I noticed that one of his eyes would wander when he tried to focus on things. We had his vision tested, and found out that he is extremely far-sighted. He has been wearing glasses ever since, and has patched on and off to treat the lazy eye.
We moved when Emery was almost 3 years old, and our new doctor did see the need for further testing due to some of his unusal characteristics. His MRI came back normal, but that is when we got our genetic diagnosis. He has a 3q29 microdeletion of 1.6 mb. The papers said it could affect his PAK2 and DLG genes.
Emery is currently a pretty healthy boy. His only ongoing health concern is chronic constipation, which we treat with Miralax. He is still in OT for his fine motor skills, but is not receiving any other therapies at this time. He speaks very well, just very slowly and methodically. He seems pretty well adjusted socially, but perhaps a little immature compared to his peers. He is in an ESE pre-K class. At home, he struggles with some behavior difficulties, especially impulse control and a quick temper. He does not always seem to understand cause/effect, so discipline can be a challenge for us. He is quite intelligent, and we are excited to see how he continues to progress.