What is Creutzfeldt-Jakob Disease? 3 Facts About The Prion Disorder That Killed Sandi Tucker Kennedy

On Christmas Eve this past year, Sandi Tucker Kennedy resembled a stroke patient. Within weeks her symptoms worsened – slurred speech, inability to walk, loss of motor skills, vision and memory loss.

With all the tests coming back negative, doctors struggled to find out what the 38-year-old mother of four had. Eventually doctors diagnosed Kennedy with Creutzfeldt-Jakob disease – a rare, degenerative and fatal brain disorder. Kennedy, from Kennebunk, Maine, died on Monday.

“Sandi’s memories will live on with us every time we go to the beach and hear the sound of the waves crashing. If we are ever hesitant to tackle some new adventure in fear of how difficult it may be on us, think of Sandi, as she knew no such reservation. She had an infectious laugh that you could feel with every inch of your soul,” Kennedy’s obituary states.

The disease is a human version of Mad cow disease where abnormal prion proteins infect the brain, making tissue samples look like sponges under the microscope.

For those unfamiliar with Creutzfeldt-Jakob disease, below are answers to common questions surrounding the disorder.

What is Creutzfeldt-Jakob Disease?

Creutzfeldt-Jakob Disease or CJD has been recognized since the early 1920s. It is a rare disorder that affects about one person in every 1 million people worldwide each year. In the United States there are about 300 cases each year. The degenerative brain disorder usually occurs in individuals that are 60 years old or older. Most die within a year of being diagnosed.

CJD occurs when a prion protein, a small infectious particle of abnormally folded protein, is found throughout the body. The protein begins folding into an abnormal 3D shape that triggers the brain to fold in the same way.

CJD belongs to a family of diseases known as transmissible spongiform encephalopathies (TSEs). Infected brains become filled with holes that resemble sponges when seen under a microscope.

What Are The Symptoms?

Difficulties with muscular coordination, personality changes, including impaired memory, judgment, and thinking; and impaired vision are among the symptoms associated with CJD. Rapidly worsening confusion, disorientation, problems with memory, thinking, planning and judgment, difficulty walking and muscle stiffness are other common symptoms.

The rapid progression of these symptoms among others is a sign of CJD. While no single test can diagnose the disease, an electroencephalogram, MRI and lumbar puncture can confirm whether an individual has CJD or not.

Who Is At Risk?

CJD has no known cause. One theory describes how a prion protein in the brain spontaneously begins to fold and triggers others to do the same throughout the brain. In some cases CJD is inherited from a genetic mutation that controls the formation of the normal prion protein.

The disease is not airborne, but exposure to infected brain tissue and spinal cord fluid can cause CJD to spread. While CJD commonly infects older people, a new strain called nv-CJD which has appeared in individuals in the UK and France has led some doctors to believe ingesting contaminated beef could be linked to contracting CJD.