Carmen update: Yesterday we took Carmen to Children’s for an appointment with her gastroenterologist. Carmen is proving to be a very baffling case. She has chronic diarrhea with mucus, she keeps getting bigger and bigger despite minimal calories, and she has random edema (swelling) episodes. The doctor said the only thing left to do is take a look with a scope but Carmen would have to be put to sleep to do that. Carmen had some bloodwork done (I think to re-check kidney/liver function). The lab tech did the finger prick again and thankfully it didn’t seem to bother Carmen. The gastroenterologist recommended that Carmen see a cardiologist to rule out heart issues.
You know you’ve spent a lot of time at Children’s when you walk into the lobby and your child’s neurologist is rushing by and stops to ask how you are all doing. A few minutes later you are waiting for the gastroenterologist and your child’s nutritionist walks by the room and pops in to say hi. Apparently Carmen is unforgettable. 
I’ve mentioned the cherry-red spots a few times and thought I should give a quick explanation. Most children with Tay Sachs are diagnosed after the cherry-red spots are seen during an eye exam.
Patients with Tay-Sachs disease have a “cherry-red” spot, easily observable by a physician using an opthalmoscope, in the back of their eyes (the retina). This red spot is the area of the retina which is accentuated because of gangliosides in the surrounding retinal ganglion cells (which are neurons of the central nervous system). The choroidal circulation is showing through “red” in this region of the fovea where all of the retinal ganglion cells are normally pushed aside to increase visual acuity. Thus, the cherry-red spot is the only normal part of the retina seen. Microscopic analysis of neurons shows that they are distended from excess storage of gangliosides. (See photo below of cherry-red spot on retina.)
Cherry red spots are also observed in patients with a few other storage diseases (diseases similar to Tay Sachs).
I think I have read that eventually the cherry-red spot disappears as a child with Tay Sachs ages. That makes sense to me as eventually there would be no normal part of the retina.
So, that’s the science lesson for the day, courtesy of Wikipedia! The photo was taken from the Journal of Postgraduate Medicine.
