M33 — August 2012 — CJD — Creutzfeldt-Jakob Disease
Intro: There is a disease that strikes just 300 Americans each year. Yet, it is a nightmare that some have described as a lightening quick version of Alzheimer's & Parkinson's diseases combined. For families losing loved ones, research holds the only hope. Here's Dennis Douda for Medical Edge.
"This is a book all her scrapbooking friends made."
"It's got the dragonfly. She loved dragonflies."
For Kip Laven warm memories of his 17 years with wife Michelle well up just as quickly as the tears of loss.
"She always had a smile. Her laugh, her laugh was great."
"She was great. Really miss her."
In March of 2011 42 year old Michelle experienced a sudden onset of stroke-like symptoms; difficulty speaking and confusion, odd movements. All tests came back negative and she was sent home, but Michelle was still struggling.
"You know everything was not working. She'd put her shirts on backwards."
Within a few days Michelle was back in the hospital to stay. Stroke and meningitis were ruled out. Kip says primary care doctors and specialists were stumped. And then without the chance to ever say goodbye his wife was gone.
"40 days, I think it was, from the beginning to the end. It was done."
The diagnosis, Creutzfeldt Jakob (Kroits-felt Yah-kawp) Disease, or CJD. There is no treatment and it is always fatal.
"We call it a rapidly dementing illness. That's something that affects cognitive skills, memory, thinking, behavior, and it comes on rapidly."
Mayo Clinic neurologist Dr. Allen Aksamit says an abnormal infectious protein called a prion is believed to be the cause of CJD, actually creating holes in and around neurons in the brain.
"It co-opts the normal protein and then it becomes a self-replicating or self-amplifying process, which essentially kills neurons and gets transmitted to other neurons in the vicinity."
Dr. Aksamit says 90% of cases are sporadic, striking spontaneously without a known cause. The other 10% are familial, which was Michelle's case. Kip says that means their son's Cody and Devin have a 50-50 chance of developing CJD, a possibility he finds very hard to bear.
"The normal person, if you knew you had it, you couldn't get married, couldn't have kids."
Since CJD affects just one in a million people, research is slow to progress. Yet, that is Kip's only hope of erasing the long shadow cast by a dreaded disease.
I'm Dennis Douda reporting for Medical Edge on the Mayo Clinic News Network.
Kip may wait until his sons are adults to explain the genetic connection and let them decide if they would like to be tested to see if they are CJD carriers. An added note: Dr. Aksamit (AK-sah-mit) says CJD is NOT Mad Cow Disease, even though that is also a prion disease condition. For more information contact the CDF Foundation: www.cjd.org.
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