Tribute to a Greek God (Part VI)

Discovery
I’ve gotta tell ya, I haven’t studied like this before writing something since I was in college! I just spent two hours going through a two inch-thick manila folder, full of letters from Dr. Farlow, along with various newspaper clippings, medical journal reports, and other information related to my family’s trek through medical history with Early-Onset Alzheimer’s Disease.

I’ll try not to bore you too much with clinical jargon. I understand just enough to be able to roughly explain the findings that Dr. Farlow and many others worked so hard to uncover. Their efforts certainly went a long way toward saving my sanity. They no doubt will contribute to the saving of many lives in the future.

Things seemed to happen so fast from the time that we learned David was sick through the next few years. Immediately after Telluride, Dr. Farlow contacted Cindy about getting David even more involved in their research. David was enthusiastic about the possibility of becoming an integral part in finding a way to control the awful disease which now had a firm grip on his life. In a phone conversation discussing his plans with Lbro, David exclaimed proudly, “My blood is going to make medical history.” And so it did.

It was an evening during the Summer of 1991, a few months since our second “mini-reunion,” and Dr. Farlow's initial collection of blood samples from all of the family members. The phone rang.

“Hello?” I answered.

I heard a man’s voice quivering, “They FOUND IT! THEY FOUND IT!” It was my Dad. He was crying.

“Dad? What? What did who find?” I said, trying to make sense of his words.

He paused, overcome with emotion, but gathered himself to say, “Dr. Farlow just called. They found the mutation on Chromosome 21 with David’s blood! They’ll be able to test for Alzheimer’s! Do you know what this means?”

I meant a lot — for all of us.

David’s blood yielded the breakthrough the doctors had been looking for. They isolated the genetic mutation on Chromosome 21, on the gene responsible for the production of the amyloid beta protein I mentioned earlier, responsible for forming the “senile” plaques that destroy the brain cells of Alzheimer’s victims.

They discovered a correlation in the lack of the genetic precursor for that protein in the blood and other genetic material that they still had on hand from my Mother, Aunt, and Uncle (whose tissue samples the IU doctors had been studying all the way back since the 60s), with this spot mutation. David’s blood supplied the final link in confirming their suspicions. Each of the affected family members carried that same mutation and showed the same under-production of that specific genetic material. Their findings sparked a great deal of excitement and interest in the medical research community.

In October of 1991, Dr. Farlow’s group published a paper about their findings that was featured in the research magazine, “Science.” That paper was noticed in turn by a researcher in California, Dr. Steven Wagner. He had been independently developing a test to measure this same amyloid precursor protein (APP) in spinal fluid. He contacted Dr. Farlow and they quickly joined forces to combine their research efforts to effectively develop the very first genetic test for familial Alzheimer’s Disease.

In the meantime, in the midst of these two events, PBS Superstation, WGBH in Boston, wanted to produce an episode of Nova on genetic diseases as part of their Biology Series. They too had noticed the article and decided to contact Dr. Farlow about featuring our family in the program.

The Nova episode aired in January, 1993, and devoted fifteen minutes of the show to David and my Mother's family. Most of the shots of David and Cindy were featured voiceovers by the narrator. However they did feature a brief, direct interview with David, in which he explained his current state of mind and hopes for a cure to somehow be found.

Also featured was a conversation between two of my uncles. They talked about their confusing and frightening experiences in dealing with my Grandfather during his illness, and his violent tendencies that forced them to literally have him locked up in a jail cell while arrangements were being made to have him committed to a mental hospital.

I pulled out my VHS copy of that Nova program tonight; it had been years since I’d last watched it.

During my uncles’ discussion, the camera panned across the table at which they sat. It was covered with old photographs of my grandparents; my aunt and uncle who had died from Alzheimer’s, and some exquisite photos of my Mother, so beautiful and young; pictures that I may have only seen once or twice in my life. I so wish I’d had the chance to have known her.

The test we had hoped for was now available. But did we really want to know? Dr. Farlow would ask us to come together for the sake of the project, one last time.


Next: Weekend at Marty’s — or — This is Spinal Tap!