Ethyn’s life with Trisomy 5q.23 1q.23 duplications

05/02/2026

A piece of good news is that I have recently discovered that Ethyn is not the only one in the family with this disorder, as I also have a second grandson with the same condition. Fortunately, the main health concern for Ethyn is the fetal alcohol syndrome encephalopathy.

05/02/2026

I'm struggling to come to terms with this. At 2, his prognosis was dire, with expectations that he wouldn't survive to 18. As he nears 16, the changes are becoming more evident, and the pain of losing him is excruciating. I thought I'd be more prepared to handle this, but it's proving to be a daunting task. He's a truly remarkable individual.

06/25/2025

Ethyn is going to high school soon. Happens to be the exact one that terrifies me on so many levels.... guess time will tell

06/25/2025

On Ethyn last appointment we discussed the video EEG that was done. They didn't see any seizures but did note there is an increase in the amount of slowing the brain waves are showing. They don't want to do a sedated MRI again for fear of the encephalopathy going haywire. It's hard to think that he doesnt have a bright future even though much of it is unknown

06/25/2025

Here's Ethyn going across stage at 8th grade graduation. On to high school next year!!!

05/19/2024

About a month ago Ethyn had a massive nosebleed. For lack of a better term hemorrhaging. It took over 30 minutes to get it to stop and when I took his blood pressure it was dangerously high. Because of that the nephrologist moved his appointment up to last Monday. At that time they did a blood test. They called yesterday with the results. His kidney function is low. They want to redo the blood tests and order more. We go in two weeks to Rockville this time for the new tests.

11/05/2023

11/05/2023

I would like to welcome you to our page. I decided to create this page for several reasons. The first being is many of you have been asking me how Ethyn has been doing and rather than continuously repeating myself I would just update this page. I also created it in hopes of finding any other parents out there with children with one or both of these duplications and maybe share information, procedures and surgeries since both are very rare and little is known about them.

Ethyn was born two weeks late and weighed 6lbs,5oz. Nothing was said in advance about any of these disorders. It wass wasn’t until I persisted that something was wrong that they agreed to send us to children’s. I had custody of him and his brother at this point. They originally diagnosed him with fetal alcohol syndrome but they were also concerned about Down syndrome. They ran a fragile X and a microarray and that’s when it came back that he has Trisomy 5q.23,1q.23 duplications. His future is unknown but my hope is to find others and compare notes to give these kids as long as possible.