Wednesday, July 14, 2004

Tribute to a Greek God (Part VII)

Weekend at Marty’s — or — This is Spinal Tap!
Okay, maybe the “weekend” part is a little inaccurate. Actually, it was just one weekday — it only seemed like it was more than 24 hours; one very long, difficult day at IU Medical Center in the Spring of 1992.

But first, a little recap.

Rewind to about four months earlier. My family and I had just pulled up stakes and left SoCal over Christmas break, arriving in Nashville on New Year’s Day, 1992. In a previous trip three weeks earlier, I had secured an apartment for us to live in when we arrived.

We had decided during a fact-finding trip in August of ’91 that Nashville was the logical place for me to continue my career in the record industry, while finding an escape from SoCal’s high cost of living, pollution and ever-increasing gang presence in our children’s schools.

As an added bonus for Michelle, while I would be leaving my parents behind in California, she would now be considerably closer to hers in Florida, and even closer, my older brothers and extended family in Indiana. So at the time, it appeared to be a good move on a lot of levels; it indeed turned out to be a great move for all of us.

Although I was now half a continent away from my Dad for the first time in my life, it turned out that I wouldn’t have long to wait before seeing him and my brothers again.

One Final Reunion
Back in October of 1991, Dr. Martin Farlow’s group at Indiana University Medical Center had garnered quite a bit of attention from the rest of the medical research community with the publishing of their article in Science magazine. My brother David’s blood had yielded the discovery of the genetic mutation responsible for the familial Alzheimer’s Disease that had devastated my family for generations.

Another researcher, Dr. Steven Wagner in La Jolla, CA read the research that Dr. Farlow had published. Coincidentally, he was working on a test involving the same genetic protein that Dr. Farlow discovered to be the product of the mutated gene. Combining their efforts they were able to now do what had never before been possible: to test for the presence of the genetic mutation and thereby allow family members to finally know whether or not they possessed the propensity for developing Early-Onset Alzheimer’s Disease.

The primary benefit the test afford victims would be the opportunity to seek treatment before the disease progressed beyond the point of attainable relief.

In order to expand the sampling of their new test, Dr. Farlow called upon us as a family one last time in the Spring of 1992. All of the children of the affected members of my Mother’s family were called upon to travel to IU Medical Center for a complete battery of psychological and physical tests and to provide new tissue samples.

Putting us through our psychological paces included a series of grueling cognitive and memory tests. The physical samplings we were asked to surrender included blood samples and skin grafts from each family member, as well as a spinal tap, to draw the cerebrospinal fluid (CSF) that was so critical a component in Dr. Warner’s test for amyloid precursor protein (APP), the measuring element for revealing the presence of the genetic mutation.

All in all, there was not a single moment of this 8-hour experience that any non-sadomasochist would consider fun. The psychological tests were especially nerve-wracking due to the totally natural dread that if anyone faltered, it might lend credence to the possibility that they too were a carrier of the Early-Onset Alzheimer’s gene.

Up to that point, the only one we absolutely knew to be affected was, of course, David. Jack was reasonably assured that he was home free due to his relatively advanced age of 45, which was beyond the onset-age of the disease’s expression, historically, in our family. However, the rest of us were still totally on the hook.

Dr. Farlow told us in no uncertain terms that the results of this testing would not be revealed to anyone — even the person tested — unless they themselves wanted to know. Even then, they would have to sign a gazillion release forms absolving the IU from responsibility for such information, and the potentially devastating effects it could have on both the psyche and quality of life for that person.

Again Drs. Farlow and Wagner and the IU team published the results of the tests on my family’s genetic material. In August, 1992, the British medical journal The Lancet featured their findings, which again raised quite a stir in the medical community. The test that they developed not only benefited my family, but was applied successfully in use against other previously non-testable familial diseases, such as Huntington’s disease, and certain types of Parkinson’s disease.

The research continues, and according to my Dad, who spoke again with Dr. Farlow earlier this year, there are some potentially significant breakthroughs just around the corner. We may see by the end of 2004, new drugs that will inhibit the onset of Alzheimer’s symptoms so well, even in familial cases, that effectively the disease could be rendered impotent.*

Certainly there are more than just the individuals at IU Medical to thank for all of this progress. Medical personnel all over the world have enjoined the battle against Alzheimer’s, adding a tremendous amount of the research and development currently going on today. However the tone that was set by Dr. Farlow and his predecessors at IU Medical studying my family’s history with the disease through the years has been incredibly significant. They made my big brother’s proclamation come true: his blood did indeed make history.

To test, or not to test
I know what you’re thinking, “So…did he get the test or not?”

Well, in a word, no. As it turned out, I didn't have to.

Back in ’92 when we all gathered at IU for the testing, I was talking to Dr. Farlow about the ramifications of signing my life away to find out if I indeed had the Alzheimer’s genetic mutation. I reasoned that it probably would be wise to do so because I could then make myself available to their research, perhaps helping them test some of the experimental drugs under development to delay the onset of AD.

His answer surprised me. He said that I should consider the fact that if I signed those releases and it turned out that I did indeed have the gene, I would then become uninsureable. And considering that I was at that time — and assumed that I always would be — self-employed, that was a pretty frightening notion for me and my family. I was faced with somehow having to go out and find some kind of affordable disability insurance before I actually found out about the results of my test. That just wasn’t going to happen anytime soon, as I was still trying to build my business in Nashville after moving from SoCal.

To add to my angst over the prospects that lie before me, when Dr. Farlow & company’s Lancet story was published, I read something that generated more than a little bit of concern. In the report itself, the principals in the study (my family) were identified loosely by age, since they could not be mentioned by name for the sake of confidentiality.

Out of the 10-member sample of test subjects, three members tested positively for the genetic mutation. The identity of one of the three was a foregone conclusion: David. The other two mentioned were described as being aged 39 and 35 respectively. Revealing the age of these two people wasn’t a dead giveaway, since there were two 39 year-olds and two 35 year-olds in our family group.

At the time we were being tested in Indianapolis, in 1992, there was a rumor involving the identity of the 39 year-old. It was pretty well decided that it was a particular cousin who it was said, had starting experiencing some unusual short-term memory loss.

The identity of the 35-year old was a tougher nut to crack. And a scarier one too. Yep…I was one of those two 35 year-olds, and I was scared shitless. The other candidate was the 39 year-old-in-question’s younger sister, and I was thereby pretty well convinced that the odds were not in my favor. I mean, what were the chances that both of my Aunt Ruth’s only two children would share the deadly genetic trait with their Mother? I prepared myself for the worst. But I really didn’t know how long it would take before I could “afford” to find out.

I remember clearly the time I became cognizant enough of my Mother’s dementia to ask my Dad about it. I asked, “Dad, what’s wrong with Mom?”

He quietly heaved a heavy sigh and answered in a, low breathy voice, “Honey, her brain isn’t getting enough air.” During the nine months of Alzheimer’s angst I experienced from August 1992 to April, 1993, that’s a little how I felt: smothered thoughts, smothered plans; I felt my future slowly suffocating.

Fortunately, I caught a break. The older cousin spilled the beans.

Good News/Bad News
In April 1993, I received a phone call from another of my cousins with whom I had always been fairly close to as a child (in more ways than one), growing up in Indiana. We’re the same age, as a matter of fact, our birthdays are only two days apart. We haven’t talked for years now, but back then we communicated on a fairly regular basis. This would be one of the more important communications we would ever have.

She called to tell me about a local newspaper article in which positively tested cousin #1 (the 39 year-old) had given an interview about he fact that she went ahead and found out her Alzheimer’s test results, and how she was dealing with the inevitability of the impending onset.

She talked about how she had watched her Mother deteriorate and expressed sadness in that she knew her sister also carried the gene.

Did she realize the implication she had just made, publically? Maybe, maybe not. But I can still hear my cousin’s voice coming through the phone receiver, “Did you hear that? AJ — YOU DON’T HAVE IT!”

I felt as if a cement vest had just been lifted from my shoulders. Forgive the old and over-used cliché, but that was moment was the dawn of the first day of the rest of my life.

*2011 Update: Since I first wrote this story in 2004, a lot has happened in the development of the aforementioned “experimental drugs” involved with slowing down the onset of Alzheimer’s symptoms and the lengthening of the life of the disease’s victims. The aim of rendering AD’ effects, “impotent” soon after 2004, as mentioned previously, has unfortunately proven to be overly optimistic.

The success of the drugs Aracept and Namenda, while considerable, has not been the magic bullet many had hoped they would be, particularly in the case of the extremely aggressive, Early-Onset variety that plagues my family. Nonetheless, the research continues, and with it, the optimism that something can be done before the next generation of my family comes of age and is forced to deal with the frightening reality this disease presents.

Next: Saying Goodbye
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