Why Genetic Testing ?
I am a person who has been waiting and seeking genetic testing for over 17 years - basically before it was even available. I have contacted researchers, and watched for available testing. So many diseases have been ruled out - but I do not like the feeling of diagnosis by process of elimination, until death. It was in 1995 with our mother’s death and autopsy, that we found the “what” of her disease, but not the “why or how”. I, who five years earlier at the age of 41 had started my decline, had to wait in limbo another five years until one of my siblings also expressed symptoms, to then be moved into “probable” where I will stay until my autopsy.
It is horrible to physically and mentally know and feel that there is something changing in my body everyday and not be told what it is. Limbo is the best description. My identity is being taken away - to be replaced by nothing. Genetic testing can change this.
Personally, the fear of the unknown is worse than dealing with the known. How can I take responsibility for something I cannot even name until after death? And I do want that chance. So I am arranging with my doctor to pay for the few available genetic tests.
Alzheimer’s disease covers a range of symptoms. Currently, there are multiple genes for early onset, the subtype our family faces. Knowing which gene is affected for us, will narrow the path we need to seek to find what will work for us. And that is a very important factor. I want to be able to pass this information on to my family - and the friends across the country who I have met and are dealing with the same questions.
How can we tell what is working? Say in a family of six there are two people expressing symptoms. Are the other four not affected because they did not inherit the gene or because they have done, or are doing something “healthy” which has prevented or delayed the symptoms? Were they not exposed to the same environment to trigger the start? Take the Nun Study where on autopsy they found tangles and plaques, Alzheimer’s disease, but there were no symptoms and she had led a long healthy life? What is working?
If I am doing something, everything, to make my quality of life better - and it is working - how do I prove it? How can I keep the skeptics from saying “You don’t really have Alzheimer’s Disease!”
How do we who have Alzheimer’s Disease help to answer “What do I do now?” How can HOPE, PREVENTION, and QUALITY of LIFE become words more commonly used with Alzheimer’s Disease? Through sharing “What is working for me.”
The drawback - discrimination. Unfortunately this can only be fixed by awareness, and people like us who speak out. Discrimination - when will people be treated equal without martyrs? I am not the martyr, but our family’s may be because of a disease they may or may not have the gene for.
The energies need to be used to fight the disease through knowledge. In asking permission from my husband, daughter, and son to print my book they simply stated, “We almost lost you, what could anyone do to us that would be worse. You need to help other families...”