Posted at: 09/11/2012 4:36 PM
Updated at: 09/11/2012 5:27 PM
By: Ellery McCardle

Print Story  Email to a Friend

Medical Edge: Creutzfeldt-Jakob

(ABC 6 NEWS) -- There's a disease so rare...many call it a lightning quick version of Alzheimers and Parkinson's diseases combined. It's called Creutzfeldt-Jakob disease, also known as CJD is so rare, it strikes just 300 Americans each year.

For families affected by it, research holds the only hope.

For Kip Laven warm memories of his 17 years with wife Michelle add up just as quickly as the tears of loss.
 
In March of 2011 42-year-old Michelle experienced a sudden onset of stroke-like symptoms such as difficulty speaking and confusion, odd movements. Tests came back negative and she was sent home.

"You knew everything was not working. She'd put her shirts on backwards," said Laven.

Within a few days Michelle was back in the hospital. Primary care doctors and specialists were stumped. Suddenly, his wife was gone.

"40-days I think it was from the beginning to the end. It was done," said Laven.

The diagnosis was CJD. There is no treatment and its always fatal .

"We call it a rapidly-dementing illness. That's something that affects cognitive skills, memory, thinking, behavior, and it comes on rapidly," said Dr. Allen Aksamit, a Mayo Clinic neurologist.

He 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-ops 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," said Aksamit.

Kip says that means his sons 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," said Laven.
 
Since CJD affects just one in a million people, research is slow to progress, but that's Kip's only hope of erasing the long shadow cast by a dreaded disease.    

Dr. Aksamit says 90% of CJD cases are sporadic, the other 10% runs in the family such as in Michelle's case.