This week we worked in the office a bit but also got to go out to see a student who due to medical fragility, is at home all of the time. A teacher described the student at a previous meeting, and when we asked for the diagnosis we were told he has 5q14.3. Having no clue what that is, I looked into it and did some research. Below are my notes from an email to Ann a few weeks ago. While I had no idea about this particular diagnosis, my wife was familiar with the concept due to the designation of 5q14.3. She knew it was either a genetic or chromosomal abnormality based on how it was written. Clearly she has taken more biological and cellular classes than I have (last one I took was in high school), but it’s interesting how different knowledge bases can overlap.
I looked into 5q14.3 briefly and while they’re right, it’s extremely rare, 50 people in the world have it presently, it’s a different situation than the teacher was explaining. There are slight facial differences in a person with 5q14.3, but they are hard to notice unless you’re specifically looking for them. The trademarks seem to be seizures, slow or no development of speech, and potentially some level of intellectual disability. Lastly, hypotonia is always present.
We also went to ASDB and got a tour and spoke with some of the people that do Functional Vision Assessments. The purpose of the meeting was a little unclear, but the tour was great and I saw some really interesting pieces of AT for vision. Below are the pictures I took during the tour