24 July 2009

Soliciting help in doing some research

As many of you know, there are a plethora of reasons why I came to work at Science Commons years ago (3 years this August, so says my paycheck).

Part came from my background in another form of "open information" - from my time at Reporter's Committee working on Freedom of Information issues, covering First Amendment cases, Katrina aftermath, and Open Government.

Part was curiosity, having not trained as a scientist, but being very interested in the cross-section of scientific research and knowledge sharing, about the philosophy behind, the history and of course - the actual research. My work with Hal Abelson back when I was (gasp) still finishing up college gave me a bird's eye view into this world, starting with applications of education technology that crossed all disciplines, from the social sciences, to the hard sciences and back.

And part was personal. Very personal. From the early days at Science Commons, we've worked very closely with the neurodegenerative disease community and on a broader scale, the rare and neglected disease network. Two people very close to me have been / are afflicted with degenerative muscle and/or genetic diseases - one my grandfather who passed away when I was in elementary school, and the other one of my very dear friends Jameson - whose doctors stumbled upon his Marfan Syndrome diagnosis when he was 18 and at Berklee.

Jameson let me in during some of the most difficult times following the diagnosis, leading me to throw myself into researching as much as I could about the disease to better understand. Marfan Syndrome is a genetic disorder of the connective tissue, that leads to the break down of this tissue affecting in some cases just a few areas of the body but in more severe cases is extremely debilitating. It's painful to watch from the sidelines, but also compelling. Jameson has been managing this disease ever since, still doing what he loves down in Florida - playing music and living his life.

To this day, I'm still not entirely sure what my grandfather had, despite asking my mother about it. This is where I need your help, because I want to understand. And with the resources available now, I want to read more, since his affliction is still a mystery to me. Let's see if pharming this out to the web and you all can help me figure this out, some 20 odd years later.

Here's what I know / remember:

- From what I recall (remember, I was young), my grandfather was a healthy man, with no prior history of illness, genetic disorder, etc. Granted, technology wasn't what it is today back then.
- He was an avid carpenter / woodscrafter, and worked at Kodak for his career.
- His symptoms only appeared following an accident where he fell out of a tree while doing some regular yardwork in the backyard, breaking both wrists. This is where I remember it all going downhill.
- Relatively rapidly from there, he went from being my healthy, loving grandfather, to losing muscle function (or so it was explained to me) bit by bit, until he was bedridden, without the ability to speak, and only able to blink his eyes. It reminds me now of something similar to ALS, but then again I can't be sure.
- My mother said, over the phone, that it was "super neuromuscular palsy" but I'm not sure if I got that down right, or if that was the formal name for it.

Any insight into this would be greatly appreciated. As many family members, friends, or patients of those with such diseases - I just want to understand. Can you help?

** Update: Thanks to my older cousin Rob, now know the correct name of the disease - Progressive supranuclear palsy.


  1. Hey, Cuz. The name of Grandpa's condition is PSP - Progressive supranuclear palsy. http://en.wikipedia.org/wiki/Progressive_supranuclear_palsy

    Dudley Moore also died from it. I was talking with my mom about this recently and she said that it actually took years from his fall in the backyard until he was bedridden. I thought it all happened much quicker. After his wrists healed he played golf and traveled to and from Florida and California for years but he had developed dizziness and vertigo before other symptoms. Doctors found that he had also pinched a nerve in his back from the fall. Mom also recalled that his mind was still sharp through to the end but he was trapped in his body not being able to move or talk. It was sad to watch such an active man end up like he did. I hope this helps. Keep me posted on what else you dig up.


  2. thanks, robbie. that's a tremendous help. :)


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