Wednesday, April 4, 2012
My Motivation for DIAN
My introduction to the Dominantly Inherited Alzheimer’s Network, DIAN, was almost accidental. I learned about early-onset Alzheimer's disease during introduction seminars hosted by the Alzheimer's Outreach Program at London, Ontario's McCormick Home. This genetic—and highly inheritable—form of Alzheimer’s was mentioned, than dismissed as being exceptionally rare.
I took some comfort the words of Dr. Borrie, who was London's Alzheimer's expert. However, I had a problem. My mother was rapidly succumbing to dementia, in her fifties, which made her a candidate for this rare form of early-onset Alzheimer's. In addition, my mother's eldest sister, who was also in her fifties, was deep in the throes of dementia. Two sisters struggling with dementia heightened my fears.
To ally my anxiety, my family doctor arranged a referral for me to visit Dr. Borrie's Aging Brain and Memory clinic. During Dr. Borrie's consultation, he decided that I should meet with a genetics counsellor. In parting, Dr. Borrie handed me information regarding the Dominantly Inherited Alzheimer's Network (DIAN) http://dian-info.org/ .
Later, I met with Genetics, and was dismayed when they confirmed that they were unable to do genetic testing for me--because I had no symptoms of memory loss--without the genetic confirmation of as Alzheimer's mutation in my mother. Mom's loved ones were unable to pursue their own healthcare without a confirmation of her health status.
Unfortunately, I was forbidden to have a confirmation of Mom's diagnosis because of my father's misuse of decision making law, bolstered by privacy law. His motivation for withholding this valuable information was to use it for leverage against me in court. Although my father's orders were contrary to my mother's wishes, this occurred because the power of his decision making was stronger than my mother's ability to defend her human rights. The healthcare team followed my father's orders, not my mother's wishes.
My father stubbornly forbade mom's health care team from sharing information with Mom's loved ones. His "privacy" restrictions were so severe that we were not to be told if mom was moved, became seriously ill or even if she died.
More about the situation regarding decision making and privacy is available on CBC’s White Coat, Black Art radio program. http://www.cbc.ca/whitecoat/blog/2011/01/07/patient-privacy/
Time elapsed until the expensive legal battle removed my father's abusive control of my mother.
Once I became my mother's court appointed decision maker, it took another three months for the lab to analyze mom's DNA for one of three known early onset Alzheimer's mutations: APP, PS1 and PS2. During that time, I hoped that my mom would have a treatable dementia. Doubt and despair ground holes into my optimism and resilience. Genetics has such a finality about it.
I had plenty of time and mental preparation prior to hearing my mother's genetic results. Even so, I was flabbergasted by the result: Mom was positive for the APP early onset Alzheimer’s Disease.
The implications of my mother's confirmed genetic disease took time to sink in. My ironic fate was cast in conception. My 50% odds depended on whose gene I inherited: my adored mother’s defective gene or my estranged father’s safe gene. By the time I was aware of the genetic nature of my mom's dementia, I already had kindergarten age children of my own. The thought of passing the defective gene onto my beautiful girls made me ill.
Armed with Dr. Borrie's information about DIAN, I made the first contact with the American-led world wide research study. My Mom had talked to me about donating her organs to others and to science. It seemed like a perfect progression for me to participate in the study, while honouring my mother's wishes.
Because the early onset Alzheimer's genes were so rare, DIAN desperately needed participants. Participants were valuable because they provided the researchers with a glimpse of "pure Alzheimer's," uncluttered by diseases associated with the elderly. The researchers at DIAN are flexible to allow anyone who has a direct relative with a confirmed diagnosis to participate. The best part about DIAN is that participants do not need to know their own mutation status. It is the participant's choice to be informed of their genetic status.
The choice to learn one's genetic status is a very personal one. Undoubtedly, life was easier before I had the dark cloud of Alzheimer’s hanging over me. But then the latent realist in me would torment me every time I forgot a name, or a grocery item… It would make me wonder... Is my forgetting actually Alzheimer's starting?
My goal driven and planning personality eventually prevailed. I made the decision to proceed with genetic testing. With a young family, I thought it would be prudent to make informed decisions about my future health. I braced myself for another three month wait for my genetic results. I distracted myself with a cross country road trip, visiting relatives in the far flung corners of Canada.
It was thrilling to learn that I do not share my mother’s APP gene. Because I don't have it, my daughters are safe as well. The mutation is dominantly inherited, which means it cannot skip generations.
In keeping my pledge to honor my mother, I engaged to participate in DIAN at their Boston location. I recognized the unique research opportunity that families who carry the gene possess. It was my first time being away for an extended period of time from my husband and girls. I do find it exciting that I can be a part of the solution for such a cruel disease.
Everyone I have met at DIAN has a very hopeful and optimistic attitude about a future without Alzheimer's. I look forward to learning more through forums, webinars and participating in research. I am a willing advocate now. My motivation is not an accident.