Over the last four years, my commitment, and my families commitment to find a cure for Alzheimer’s disease has most notably been in the area of raising money for research. And through the help of many, and generosity of many more, over $160,000 has been raised in Marcia’s honor or memory. Another commitment to find a cure is that we agreed to donate Marcia’s brain to the Taub Institute (Columbia University) after she passed away. Dementia cases cannot be confirmed with certainty while living and our family wanted to know exactly what kind of dementia caused her suffering and death. But we also wanted her brain to be used for research to help learn as much about diseases of the brain as possible. Per Marcia’s wishes, we had hoped to donate as many organs as we could to help others in need. Unfortunately, Alzheimer’s disease makes all other organs, other than the brain, ineligible for donation. But her brain will hopefully help unlock some of the mysteries of Alzheimer’s for future generations.
A few weeks ago, just a little over 3 months after Marcia died, her neurologist’s office contacted me to let me know that the results of her autopsy were ready to share with us. Throughout Marcia’s illness, her neurologist had never given an absolute diagnosis. Marcia had seen him for four years and he was consistent in saying that his best guess was that Alzheimer’s was likely what she had, in the absence of a better guess. Over the last year we started to see signs that maybe she had Lewy Body Dementia, or maybe she had both. From a treatment standpoint, there really wasn’t much difference and there was nothing that could be done to prevent further progression in either case. My hope, and what I had prayed for was a Lewy Body confirmation for the sole reason that LBD has no known genetic connection and this would clearly be better, more mind easing for me and our kids. However, this was not what they found after examining Marcia’s brain. I was told that Marcia had a pure, classic case of severe Alzheimer’s disease.
Alzheimer’s disease is caused by the formation of plaques and tangles. Plaques are deposits of a protein fragment called beta-amyloid that buildup in the spaces between nerve cells. Tangles are twisted fibers of another protein called tau that build up inside cells. Marcia’s buildup of plaques and tangles were “dramatic and extensive”, found throughout the brain, widespread and severe. Whereas a plaque count of 15 – 20 is considered high, Marcia’s count exceeded 30. Questions that will never be fully answered include why did Marcia have such profound speech and communication loss while her memory seemed less affected as compared to more typical Alzheimer’s symptoms? They did not find more or less tangles in parts of the brain that control communication/speech vs other parts of the brain. I’m certain this is why this disease is so hard to accurately diagnose when one is still living. It just presents itself differently from case to case in terms of symptoms, severity and the length of time one lives after symptoms start to show.
So now we know definitively what caused Marcia’s death. The disappointment that we didn’t get the preferred diagnosis leaves the question of how much risk do my kids have that they too will get this horrid disease? There are “risk” genes and “deterministic” genes. In the movie “Still Alice”, which did a wonderful job of increasing awareness for Alzheimer’s and early onset Alzheimer’s, the main character, played by Julianne Moore had a deterministic gene. If one has this gene, developing the disorder is certain. Would you want to know if you had the gene? “Alice” had three kids who did not share the same perspective on testing. Two wanted to know and were tested, one result came back positive for the gene, the other negative. The third didn’t want to know. Just writing that sentence gave me chills. One case of despair, where one can see their fate and the loss of dignity, independence and knowing what is waiting for their family. One case with incredible joy, and at the very least incredible relief. But maybe guilt too? And one not wanting to have their fate determined so young. I would want to know, but only if the result was negative. This deterministic gene is very rare, with only a few hundred families known to have this gene worldwide. In these families, multiple family members in every generation are typically affected. Marcia’s family history of Alzheimer’s would not suggest a high likelihood this deterministic gene is present.
“Risk” genes increase the likelihood of developing the disease, but do not guarantee it will happen. There are as many as 33 genes that contribute to developing Alzheimer’s. APOE-e4 is the first risk gene identified and the gene with the strongest impact on risk, and MAY make symptoms appear at a younger age than usual. As many as 20 to 25 percent of Alzheimer’s cases are related to the APOE-e4 gene. Everyone inherits a copy of some form of the APOE from each parent. Those who inherit one copy of APOE-e4 have an increased risk of developing Alzheimer’s. Those that inherit one from each parent have an even higher risk, but not a certainly. Marcia may have had APOE-e4, but she might not have. It’s doubtful our kids would inherit two of these genes since my family history has no known Alzheimer’s cases. So what would be gained by testing further? A finding that one gene was present and nothing more than a slightly higher risk?
It’s more likely that Marcia sort of lost a genetic lottery, one where 33 different genes, all inherited from her parents just lined up tragically. Imagine a slot machine with 33 possibilities and they all hit 7? It’s not quite that simple, but it does illustrate that some combinations of those 33 genes resulted in severe Alzheimer’s disease. This put my mind more at ease that while my kids might have a slightly increased risk, it’s not a certainty they will get AD either. Finally, the last factor in deciding to test or not: What would we do if the test came back positive in Marcia? It wouldn’t mean my kids would inherit the gene, but their chances would be 50% that they would (or would not). And what would you do with that knowledge? There is still no cure, no way to stop or slow the progression.
The final chapter on Marcia’s illness has not been written. I’ve said many times that she showed remarkable courage and grace throughout her illness, which is even more remarkable given the severity of what she had going on in her brain. She beat cancer, lived through arthritis and spinal stenosis and she watched herself deteriorate rapidly. And she never lost her smile and passion for her family and friends. She has inspired me to live the Good Life, appreciating all life has to offer. I laugh more, I notice more, I appreciate more, I notice where others are suffering more and I love more than I ever would have had it not been for Marcia.
I plan to write one more blog entry several months from now. And this one will communicate how I am doing and how my kids are doing. How have we adjusted? What turns our lives have taken having gone through this experience? I have often thought God put me in Marcia’s life for a reason. And she was put in my life for a reason. This chapter is still work in progress, but because of Marcia’s inspiration, I choose to be happy and apply the many lessons I’ve learned and the example she set.