We have all seen a particularly attractive celebrity and commented that they must have won the genetic lottery. Whether it’s sparkling blue eyes, thick black hair, or skin that seems to never age, our genes are responsible for so much of who we are. Of course, our genes are also responsible for our less-than-desirable traits. But what happens when our genes throw us into the middle of a genetic nightmare?
The New York Times recently reported on the Reiswig family of whom 10 of the 14 siblings carried a genetic mutation that causes early-onset Alzheimer’s. While only about 1% of Alzheimer’s cases are due to a genetic mutation, when it’s your family in that small percentage, those odds can seem astronomical.
Not only are these families forced to watch countless loved ones slowly slip away into the horrors of dementia, they are left fearing their own futures. In the midst of this still quite unknown disease, they are left with more questions than answers. One of the first questions, and often the most gut-wrenching, is whether or not to be tested for the gene.
There is no easy answer to this question; it is a very personal decision as it will likely change the course of your life for the rest of your life. Some believe knowledge is power. If they know they have the gene, they can make plans; they can prepare themselves and their families for the inevitable. Still others choose to be tested to prepare for having a family.
Others choose not to be tested, fearing that receiving that death sentence will diminish the limited quality of life they have left. For many, ignorance is bliss and they want to live their life to the fullest without the fret and fear of impending doom.
As the mother of a child with a genetic disorder, I have been on the roller coaster of emotions that comes with the diagnosis of an incurable disorder. I have spent hours crying, worrying and imagining the worst. I have been grateful and elated, and have felt despair. My eyes have glazed over researching and looking for answers.
Because my young daughter’s diagnosis is the first and only in our family, I had no option of wanting to find out or not. It was right there in our faces, and we were forced into that decision of knowing.
We have made the decision not to go into great detail with our daughter about this disorder until she develops more symptoms or is old enough to fully understand; this is our effort to let her have the most normal life for as long as possible – hopefully forever.
Because of that decision, we have lived our lives like any other family. I gave myself and my family permission to not live within the disorder, but to live despite it. In fact there are days, weeks, even months when the thought of my daughter’s medical future doesn’t cross my mind. Of course, there are times when it seems like a few days’ worth of thoughts are consumed with nothing else, but it passes quickly. For now.
Genetics can be a blessing and a curse. Thankfully, the advances they continue to make in genetics bring us closer and closer to understanding these diagnoses and potentially finding a cure. These advances have also allowed many to have a family with the fear of passing on these terrifying genes. Unfortunately, there will still be families having to ask themselves, “Do I really want to know?”
For more information and resources on Alzheimer's, visit Help For Alzheimer's Families
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