Rare Cancer Genetics Registry

In the wake of the tremendous progress made in the field of genomics over the past decade or so, research into the genetic underpinnings of the diseases collectively called "cancers" is hot. Genetic flaws -- missing genes, extra genes, transposed genes -- have been implicated in a number of different cancers. Worldwide, researchers are racing to add to this store of knowledge.

Meanwhile, Congress occasionally frets about the fate of victims of so-called "rare" cancers which, collectively, add up to about 25% of cases and deaths. Because of the relatively low number of patients having a given rare cancer, it is difficult to populate clinical trials relating to the disease, and a drug targeting it is difficult to deliver in an economically viable manner. Hence, for example, the Orphan Drug Act, which is meant to short-circuit the ponderous FDA approval process for drugs targeting rare diseases, thus making their production more attractive to the pharmaceutical industry.

A couple of years ago, the National Cancer Institute funded the establishment of the Rare Cancer Genetics Registry, which is meant to be a storehouse of the raw materials necessary for research into the genetics of cancers such as multiple myeloma. The registry contains a database of patient family medical histories, pathology records, and DNA samples. Researchers have the ability to obtain tumor tissue samples, and to contact registrants regarding voluntary participation in studies.

Earlier this year, I received from Johns Hopkins, which is one of the research and recruiting centers of the registry, an invitation to participate. It took me several months to round up all of the required family medical history information (this is how I learned that Grandpa Shaffer's "bone cancer" was really metastatic lung cancer), but a couple of weeks ago I finally sent in the completed questionnaire. Today I sent in my DNA sample, in the form of a tube of saliva.

It is possible, but unlikely, that my entire genome will be sequenced; far more likely that only those portions of it implicated in myeloma will be cracked open. But of course if over time more of it needs to be examined then it will be available for that purpose. In any case, the results of none of this activity will ever be available to me personally. There is no predicting when, if ever, I could be asked to participate in a study, or what such participation might involve in terms of personal commitment. But at least now I'm in there.

Back On My Bike

Before my first trip to the hospital, almost exactly two years ago, I was fairly physically active. I was doing some running (actually running wind sprints) and biking, and doing some light weight training. All this came to an abrupt end, of course, with the onset of my crisis. Since then, once I recovered (more or less) my ability to walk, walking has constituted almost the sole form of physical exercise for me. I use a treadmill or, if walking outside, I continue to use the cane as a safety device. Probably, I will never run again, since that would risk injury to the fragile, disease-ravaged spine. I find the idea of water exercise fairly tempting (I swam for years, back in the day), but fear the chlorine (eventually the irritation it causes the skin becomes unbearable, which is why I stopped swimming in the first place).

But then, there is the bike. This year I was determined to give it a try, once the winter broke. I wasn't completely confident. The muscles used in riding a bicycle are different from those used in walking, and they hadn't been used in a long time. There remains substantial numbness in the lower half of my body, so I wasn't exactly sure how well I would be able to control the vehicle. And once one's feet have left the ground, there isn't a lot of room for error. A fall would of course be fairly calamitous.

The transmission on my bike is 24-speed, so it can be cranked down to a point where, on a level surface, very little force (but a lot of pedaling) is required to achieve forward progress. I assumed that I should begin with this configuration, not knowing how much force I would be able to apply. I wasn't even completely certain that I could remain balanced on the thing. But as it turned out, things went better even than I was hoping. I was able to advance the gearing (but still considerable below the old normal) and ride up and down the street some way a couple of times. I was very happy with the results of this first attempt. I certainly could feel the fact that I was waking up muscles that had been asleep for a long time.

Since then, I have made a lot of progress on this. I can ride several miles, negotiating steep hills, just as before, albeit at a much slower pace. I can feel my strength and stamina improving. I'm not sure it will ever be the same as it was, but that seems hardly to matter. For now, I can just enjoy the ride.