Expert: Mary Gordon - 8/18/2009

Question
I've been following the questions and thoughtful, kind responses on and off in the last 5 months.  From my research, I know that people with Down's Syndrome (DS) have a higher incidence of AD than the rest of us.  Formerly, people with DS didn't live past early adulthood.  My sister has DS, has been legally blind since birth, and now has AD.  I don't know quite how to put this, but I've gone through the various stages of grieving over this diagnosis.  I'm trying to keep laughter and love between us as long as possible.  But to see someone who worked so hard to learn to read and write, who worked full-time from the age of 18 and loved to bowl and dance, well you get the idea, losing her piece by piece and her knowing it is the worst thing that I've ever experienced.  What has particularly bothered me is her unconscious facial grimacing.  My sister always had a kind word to say to anyone and a beautiful smile.  The faces that she is making are almost gruesome.  This is, I'm sure neurological.  Is this specific to those with DS or does this happen with others?

I'm sorry that I wrote so much.  I just had to let it out.

Thank you for your time.

Answer
Hi Ilona, you must be heart broken.

Your sister came into the world with so much to struggle against, it seems bitterly unfair that this should happen to her now. Alzheimer's is a disease like no other. It is brutal on loved ones, who have to stand by helplessly and witness the person being dismantled, neuron by neuron.  It was very hard on our family to see my poor mother in law slip away from us so long before her body died. It must be that much worse for you to see your sister unravel. I know she must have worked so hard for every bit of her dignity and independence.

As the brain damage progresses, you often will see a range of neurological signs and symptoms - as you know, Alzheimer's causes apraxia, which is a loss of muscular coordination - and that leads to all kinds of things, such as problems walking, chewing, talking. Essentially, their brain is losing the ability to tell the body what to do.  Hand flapping (called asterixis) is not uncommon, facial grimacing, extreme stiffness, slowness (brakykinesia) twitches (myoclonus), even seizures - I know all these are the stuff of your nightmares because they are such overt signs of the terrible thing that is happening to her. All this "stuff" sometimes gets called "extrapyramidal signs"- it is usually the result of accumulating brain damage. You don't mention what stage she is in, but ultimately, as I know you fear, they lose the ability to smile at all, and after that, their face is either mask like and blank or grimacing.

Sometimes the grimacing is part of how the person will express discomfort or even pain. They may not give other signs, so if you suspect that she may be feeling something she can't express, it's worth exploring. Sometimes the person will grimace as a side effect of medication such as neuroleptics (such as antipsychotics) - do a google on  tardive dyskinesia.  

In your sister's case, with the dementia on top of all her other physical and mental challenges, it may be very hard to figure out. She is likely completely unaware of it, which is merciful, since it's unlikely that she could control it. Given that they still don't really understand the complex genetic and environmental factors that may bring on Alzheimer's, your sister's situation is that much more complicated.  

Here is a good description of the stages http://www.alzinfo.org/clinical-stages-of-alzheimers-disease.asp

My heart really goes out to you. She didn't deserve this, and neither did you. She is lucky to have you there to look out for her, and hold her hand to the end. Hope this helps a bit - there aren't the kind of clear answers out there I wish I could give you.

Mary G.