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Corvallis, OR, United States
My personal obsession with prion diseases with smidges of music I like and rescue dog advocacy from a disabled Oregonian.


Song in my head: Love doesn't come in a minute, sometimes it doesn't come at all....Paul McCartney

Aint it Cool News reviews two Zombie movies. |link|


Via CNN:

Canada project to put marijuana into pharmacies

Greta news for my friends in British Columbia, Canada who have Nail Patella syndrome, what I was born with. Here's some general information on NPS from the same website..

Nail Patella Syndrome (NPS) is a genetic disorder which affects approximately 1 in 50,000 people. The symptoms vary significantly between individuals, however it is often characterised by nail and skeletal deformities (of the arms and legs) and renal problems. Most people affected by NPS have family also affected, although some cases, known as sporadic mutations, can occur without family history.

I am a sporadic mutation. Being the fourth of five children, I was the one that came out different. Crooked elbows, the lack of thumbnails, petite and small in stature, dislocated knees, curvurtare in my back, and only one good eye; I am the mutant. The funny part is when you look at me initially I have no obvious outward signs of this condition. Appearances aren't everything though. Underneath my skin are joints malformed, knee caps dislocated and shifted to the outsides of my legs, ready to pop out of its groove because of the misplacement of tendons and ligaments. A couple curvatures in my spine have created degenerative disk disease in a woman of only 40. My pelvis and hip pop in and out of their sockets often. Hip spurs prevent my hip joints form moving smoothly. I also have TMJ, which is a dislocating jaw. It clicks constantly and so I don't even eat popcorn anymore. I don't know if my jaw problems are related to NPS, but the other symptoms are. I also have osteopenia, the precursor to osteoperosis. For some reason it is a symptom of nail patella syndrome too along with glaucoma and irritable bowel syndrome. It is interesting how this syndrome affects certain organ systems. It is interesting how it can just pop up in a family, like it did to me as a sporadic mutant. So, if you see someone with weird thumbnails, bent elbows, and a widow's peak they could be one of us.

It is also worth mentioning that I had a 50/50 chance to pass this syndrome to my kids. Both of my boys do not have it. The first time I met another person with NPS was in 2002 at a medical conference/research study sponsored by John Hopkins and University of Pennsylvania Medical Center. What a truly amazing experience to see that I was not alone.

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