When we went to see Hannah’s ENT doctor a week or so ago, we were in the elevator on the way down, and one of the doctors going down said “Hey, your daughter doesn’t blink.”   He didn’t say it in a concerned way, just more like he found it somewhat amusing that she kept her eyes wide open the entire way down. 

So I had experimented with her for the rest of the afternoon.  Sure enough, she can go for over 10+ minutes without blinking.  I got tired of watching at that point!  She isn’t having a seizure or anything, as she just goes about her day when this happens, playing with toys, drinking a bottle, taking a walk, etc.  She has no problems interacting and has no changes in her personality when this happens.  We also have no idea when this started because we had never noticed it before!

She will close her eyes if you touch her eyelash, and when she gets tired she will close her eyes (most of the way) to sleep. 

So we shared this at our pediatrician visit, and he was just amazed at this symptom.   So we now give her eye drops a couple of times a day to make sure her eyes are lubricated.

This is where it gets very interesting…

I asked Dr. Sidransky at the NIH about this new symptom, and her response was “That is very interesting and not typical of the eye movements in type 3 GD. It will be interesting to see what our neuro ophthalmologist thinks!”

I did some research into this, and you know what disease lack of blinking is a symptom of?   PARKINSON’S DISEASE!  Check it out, 1st on this list from MedicinePlus Encyclopedia/NIH.  You can NOT tell me that these two diseases do not have a definite commonality of some sort in their disease process!  

Hannah, who has a never-before-seen genetic mutation of neuronopathic Gaucher’s disease, has developed a symptom that is not a symptom of her Gaucher’s disease but IS a symptom of Parkinson’s disease, the very same disease that last week a 10-year-study and a second study solidifed the genetic link between the two diseases. 

There is a VERY STRONG connection here!!   Something that DESERVES to be looked at!  Hannah and the other GD23 children truly MAY hold a key to understanding Parkinson’s disease, yet we can’t seem to get them to notice!