Irreconcilable Approaches to Dealing with Early Onset Alzheimer’s
by John Aquino on 07/05/12
I am going to vary my usual procedure of writing about intellectual property, the art and practice of writing, and films and theatre, and address something that, unfortunately, too many of us are experiencing and more and more are likely to experience and that is dealing with the diagnosis of early onset Alzheimer’s Disease for a loved one. My perspective is that of an attorney and journalist who writes about health issues and what I write is based on personal experience with a loved one.
Alzheimer’s disease is a progressive, ultimately fatal, disorder in which certain types of nerve cells in particular areas of the brain degenerate as a result of amyloid plaques and neurofibrillary tangles. U.S. Food and Drug Administration-approved drugs to treat Alzheimer’s are cholinesterase inhibitors that break down acetylcholine and offer a temporary delay in the worsening of cognitive symptoms for 50 percent of Alzheimer’s patients. They do not, however, stop the underlying neurodegeneration. Researchers have found that development of plaques and tangles may represent a fairly late-stage in the disease process.
The diagnosis of early onset Alzheimer’s is relatively new and is entirely dependent upon the experience, skill, and style of the physician or physicians. The problem with the diagnosis is that no one will be able to tell if it is correct until the autopsy of the patient. Through skill and experience, some physicians feel they are pretty good at telling if a patient has Alzheimer’s. Some doctors decline to give the early onset Alzheimer’s diagnosis, distrustful of the lack of certainty.
The U.S. Food and Drug Administration has reported that the diagnosis of Alzheimer’s Disease is incorrect 20 percent of the time. A 2011 global study put that number at over 50 percent. Sometimes frontotemporal dementia is misdiagnosed as Alzheimer’s. That’s actually not good news for the patient because FTD is actually worse than Alzheimer’s—it strikes earlier, the patients die sooner, and there is no treatment. Or it could be normal pressure hydrocephalus, or NPH, a progressive brain disorder that so closely mimics Alzheimer’s and Parkinson’s diseases that many doctors are said to miss it 5 to 10 percent of the time. NPH has been known to be treatable through surgery.
In April 2012, the FDA approved a test to detect the presence of proteins in the brain that are associated with Alzheimer’s. The absence of the proteins indicates that the patient likely does not have Alzheimer’s and that the symptoms are related to something else. The presence of the proteins may or may not indicate that the patient is suffering from Alzheimer’s Disease since the proteins have also been found in non-Alzheimer’s patients. The test uses a chemical called florbetapir, known by the brand name Amyvid, which is a radioactive agent that tags clumps of a sticky substance called an amyloid. Amyloid proteins are hallmarks of Alzheimer's disease. The chemical, which costs $1,600 per dose, then is detected using a brain imaging technique called positron emission tomography, known as PET scans. The test became available in limited quantities in June 2012. Most insurance companies do not currently cover it.
Our loved one was diagnosed in 2009 with either early onset Alzheimer’s or “an early onset of the forgetfulness we all experience as we get older.” He immediately began telling people that he had Alzheimer’s. I remember my brother Jerry, who is also an attorney, saying that our loved one acted as if the train had already hit him. Our loved one received the cholinesterase inhibitor drugs, which appeared to have little or no effect. In 2011, his immediate family put him in an assisted living facility. His situation has deteriorated. One physician said he may not live a year.
Some of the members of the family, including me or maybe even especially me, urged his immediate family to seek second and third opinions and to pursue clinical trials. We mentioned the misdiagnosis statistics. The immediate family responded that they had complete confidence in the doctors to do the right thing, that those of us who suggested it might not be Alzheimer’s had on rose-colored glasses and were self-delusional, and that we had no idea how hard seeing their loved one deteriorate was on them.
It’s been very difficult for all of us, this tension.
I came to the conclusion that there are at least two types of people in encountering such a diagnosis on behalf of other people. The first, call it Type A, tries to make sure that every possible avenue for recovery has been explored.
My father was a Type A. When his sister-in-law Mary was diagnosed with breast cancer in the early 1960s, he spent weeks at National Institutes of Health in Bethesda, Md. talking to doctors there. Then, the only treatment for breast cancer was a mastectomy, radiation, and hope and prayer that the cancer didn't return. Aunt Mary's did. Physicians were just starting wider use of chemotherapy, and they were exploring other treatments at the NIH. My dad tried and tried to find another avenue to explore for Aunt Mary--who was a wonderful woman--and ultimately--he failed. Aunt Mary died, and Dad was very frustrated and disappointed. Dad was the lawyer in the family, and he felt it was his responsibility.
The 2010 movie Extraordinary Measures describes the true story of another Type A who also moved heaven and earth to find a treatment for his children's genetic disorder. FDA approved the enzyme replacement therapy Myozymeto treat Pompe Disease in 2006.
Another type, say Type B, trusts the doctors, has good reason to believe that the doctors are most likely right--as to Alzheimer's diagnosis, 80 percent of the time according to the FDA--and knows that spending time and energy and hope to find a solution the doctors did not find is likely to lead to great frustration and disappointment, as it did for my dad. And there are other types that are variations on A and B, I am sure.
Both Type A and Type B are reasonable approaches to a difficult situation. Unfortunately, they are irreconcilable.
As for me, I guess I’ll always be a Type A, although failure is more than likely.
Copyright 2012 by John T. Aquinov
