My grandmother died in 1985. She was diagnosed as having the Creutzfeldt-Jacob Disease. It’s a disease that slowly liquifies your brain until you die. There is no cure, no vaccine, and no hope for those confronted with the disease.

Now I have come to the point to face down the demon that may be haunting me along a genetic highway from years and ages ago. I may very well have this disease just waiting inside me for the right moment. But before we get into that, a little background on CJD.

CJD: The Patient Killer

CJD has come to the public consciousness recently because of its tie to “mad-cow disease.” There are 3 variants of CJD and the type you get from contact with infected flesh is called New Variant CJD (nvCJD). This is the type that is getting most of the attention, but is the easiest to avoid. The other two types are slightly more troubling. Sporadic CJD appears within humans for no known reasons. Doctors and scientists have been unable to figure out how or why some people acquire this variant of CJD. It simply attacks, similar to the way cancers can appear in some patients.

The last, and most troubling to me, variant is the original known type of CJD. It’s called familial CJD and is characterized by its ability to be passed along in the genetic codons of its victims. Obviously, it runs in families and has been oft-misdiagnosed in the past as severe dementia or other psychological disorders.

The prions, which are an abnormal isoform of a host-encoded protein (a protein based molecule with no RNA or DNA), affect the plaque that surrounds the synapses and neurons inside the brain. As this plaque deteriorates, the electrical signals find their way into the liquid and tissue of the brain. Not only do they not reach their destinations, but they can also damage tissue around the rupture. Eventually, the synapses and neurons begin to fall apart into what I have described as turning the brain to liquid. Most patients die earlier than this because of pneumonia or infections that the body can’t fight effectively in its deteriorated state.

There are many forms of this type of disease in the animal kingdom. There is scrapie, that sheep get; EPM, that horses get; mink encephalopathy; deer and elk encephalopathy; as well as the better known BSE [bovine spongiform encephalopathy], or “mad cow’s disease.” There are also variants in the human: Kuru, which was discovered in New Guinea and is said to be caused by cannibalism rituals; Gerstmann-Sträussler-Scheinker disease (GSS); and Fatal familial insomnia (FFI).

What all of the human forms of the disease have in common is a special difficulty of detection. The disease is caused by prions, which are neither viruses nor bacteria. There are few methods of detecting prions and therefore doctors have very little in the way of medicines to kill the prions. CJD also has an extremely long gestation period. It can lay dormant for 50 years or more, though recent studies show that it isn’t always a long-term dormancy. Most patients present with the first symptoms (confusion, dizziness, partial loss of sight) in what we would call mid-life (late 40’s to late 50’s). Soon after the first signs appear, few patients live longer than one year.

My grandmother woke up one morning and her vision had a dark smudge from the top of what she could see to a line right across the middle of her sight. She died in the midst of a coma and pneumonia 4 months later. CJD strikes quickly and leaves very little time for heroic efforts or the righting of wrongs.

What About Me?

So, the first question I asked is, “How likely am I to get the disease?” The answer has to start with figuring out how my grandmother got the disease. Was her case sporadic, familial, or from tainted flesh?

The chances of it coming from meat are pretty rare, as there is no known case of “mad cow disease” in the US currently. So, surely in the years she was alive there weren’t cases that went undetected, because the disease would certainly still be with us.

There have been some cases of CJD being transmitted through the reuse of human tissues in surgery; in particular, corneal transplants and skin grafts have been causes of concern. The last surgery that my grandmother had was a blood transfusion in 1957 when she had her last child. All of the current literature on CJD shows no correlation between CJD and contact with the body fluids of someone or something with the disease.

She could certainly have been a sporadic case with no known cause. It would be very difficult to track this down. It is unclear if sporadic cases “catch” CJD, are born with it, or even some third unknown option. If it was the sporadic variant, then one would have to know when the CJD first took hold. It was more than likely before the birth of my father judging from the historically long gestation of CJD, but it’s hard to say.

The last option would be the familial type, in which case my father would certainly have been given the gene on which CJD rests. There is no known familial history of CJD, other than my grandmother, but the odds of the disease being diagnosed correctly in 1985, the year of her death, were pretty high. So, the odds of anyone in the family tree above her being diagnosed with CJD become astronomical as knowledge of the disease was just becoming known in the early 80’s.

The gene for CJD is believe to be “autosomal dominant” characterized by “incomplete penetrance.” Autosomal dominance means that an affected person has a 50% chance of passing the trait to a child, males and females are equally likely to be affected, and two affected people can have an unaffected child. The incomplete penetrance characterization of familial CJD comes from the fact that quite often the affected person’s parent does not develop the disease. This is commonly referred to the disease “skipping a generation.”

Tracking down the type of CJD and its other characteristics could be rather difficult as the records are scarce and memories are cluttered by time and grief. It’s likely that we’ll never really know, so I have taken it upon myself to assume that it was familial and that my father was a carrier of the gene. This seems the most cautious and likely scenario to me.

This mean I have a 50% chance of having CJD. A 50% chance of whether I live or die.

What Do I Do Now?

It’s a little anti-climactic to call it a life or death situation. We all die sometime and dying at the age of 55 or so isn’t that terrible, unless of course tomorrow is your 55th birthday. I realize that’s still quite a bit of life and certainly different from Leukemia taking the life of a 12-year-old. However, the situation still raises questions.

For instance, what of my own family? I don’t have kids yet, but I have to make the decision about whether or not I want to take the chance of passing this gene on to them and then perhaps to their grandchildren. There is a genetic blood test that can give a fairly reasonable yes or no result on whether I have CJD or not. So, the quandary becomes whether or not to be tested. Do I want to know?

It’s a personal decision that everyone has to make for themselves and I wouldn’t think to argue one way or the other with anyone. Some if the issues at hand are religious beliefs. One may believe that God’s plan is God’s plan and that should be the end of it. There are social issues such as health insurance and stigma that might become troublesome were the news of a positive result to become public. There are ethical issues as well. One’s ethics may be in question if the ability to stop the tragedy of CJD was ignored. Because the disease can affect innocents long after the diseased has passed, ethics must be considered.

Of course, everyone will have their thoughts on whether to be tested at all. For me, I have recently been leaning to the side of being tested. After some recent research showed that those with familial CJD show some symptoms in early adulthood that may be indicative of being affected.

Those symptoms are believed to be severe depression, random confusion, strange memory lapses, random dizzy spells. All these symptoms might be seen in a CJD patient in their mid-late 20’s. Unfortunately, these are also the symptoms of textbook severe depression. Researchers have begun to think that maybe these are actual manifestations of the disease and that accounts for the reduction in the previously agreed upon long gestation period.

Regardless, my dealing with these progessively worsening symptoms has caused me to consider more seriously my getting tested for CJD. I have been married for over 4 years now and my wife and I have begun to discuss starting a family, so that has my mind even more attuned to the specter of CJD.

I am tasked with not only facing my own mortality, but also with the responsibility to my children and their children to give them the best chance at success that I can. It could mean adoption instead of pregnancy. It could mean no kids at all. It could mean ignoring it and taking the chance as the will of Fate.

The Ongoing Saga

This is not a situation to take lightly, but it’s also not something to worry and fret over to the point of distraction. It’s a classic tale of man faced with fate. The choices aren’t black and white. Extenuating circumstances pull at the corners of every possible solution. The emotions and the logic lay down feints and parries in a battle of the cosmos.

This awareness of mortality is the stuff of life. This is what living becomes. A combination of choices that we make in a constantly changing continuum of possibility and opportunity. It’s milieus like this that make us human. The pondering of impossible choices such as this is the essence of the human condition. And that may very well be the point.