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Genetic Testing


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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Thoughts and stories from others
  1. June 9, 2012 at 2:04 am | Posted by mike booth

    My Father has Alzeimers and dementia and I'm 54 and am forgetting what I'm talking about midway through a sentence,should I be worried?


    • June 15, 2012 at 11:03 pm | Posted by Cat Koehler

      Since I'm not a medical professional, I can't give you medical advice, but talking with your doctor about any concerns is usually better done sooner than later. All the best, Cat


  2. June 8, 2012 at 9:16 pm | Posted by Eileen Smith

    My husband was diagnosed with Alzheimers at age 54 and my daughter volunteered to take part in a TV programme about genetic testing. She has not regretted it. The link to the programme is above


  3. June 8, 2012 at 7:43 pm | Posted by Barb

    My mother has had Alzheimer's since her late 50's. I've gotten involved in research as much as poosible and two of my four siblings have joined me in the WRAP study at UW Madison in Wisconsin. My maternal grandmother had dementia issues as do three of my moms sisters. My maternal grandfather had Parkinson's. I suffer depression, which is fine on medication. I personnally suspect there are connections within my mothers family, particularly with the women. I'm involved in research because in such a devastating disease there is so little we can do to feel useful. I think I would get tested so that my children could know how to prepare for themselves. I recall my one brother saying, when I took our mother to be diagnosed, 'so what if she forgets things or repeats herself. Just let it be and stop with all the doctors.'. My feeling was that I wanted to know so we could do whatever was possible to slow it down. The diagnosis made it better because we now knew to jus act like every repitition was the first time she had told us something. It helped to educe the tension to put a name to all of her symptoms. She will be 72 on June 11, 2012 and we now have to consider the nursing home for her. We have been blessed with more years with her than most get, but of course this is also a burden for the caregivers and loved ones. I am 46 and my husband has concerns of my repeating things and forgetting things we discussed. While we joke about it being AD I know we both worry about it too. I would like to talk to my Dr about it, but if it shows up in my record it gives insurance companies a reason to raise my rates or deny coverage. There are no easy answers. Alzheimer's steals the spirit of those we love early on and leaves their bodies behind as a memory of who we love but miss so much. I pray for all of us who experience Alzheimer's in our lives and loved ones and only we as individuals can choose what we feel is best for us and our families as the questions arise.


    • June 9, 2012 at 5:52 pm | Posted by Cat Koehler

      There are certainly pros and cons to either decision. There is comfort in having an explaination for symptoms and behaviors; it helps us to stop doubting our intuition. Barb, thank you for sharing your story, and I will hope right along with you that you are just fine. Do see your doctor with your concerns; the earlier an accurate diagnosis is made (for any disease or disorder), the better.


  4. June 8, 2012 at 6:12 pm | Posted by Linda Moy

    I am a firm believer in the concept that knowledge is power. My father has Alzheimer's. I am 60 now. I am blessed to find that I have very little fear about it. I am much like my father, and he is handling it well. Luckily, I opted for long-term care insurance, so I know I have the resources to help pay for my care. The other question about testing is whether insurance companies may use it against you. That is a scarier prospect, although I have insurance through my retirement, so that's not much of a concern, either. If there were a test to tell me if I am at risk, I would take it.


    • June 9, 2012 at 5:46 pm | Posted by Cat Koehler

      The prospect of an insurer using information from genetic testing against a policy holder is a frightening thought. I am happy to hear your father is doing well, and glad you invested in a long term care policy.


  5. June 8, 2012 at 4:59 pm | Posted by Charlotte

    My husband has EOAD as does his younger sister, as did their dad, their aunt and uncle and paternal grandmother. We have no biological children so no risk of passing it on. His sister has kids and grandkids - her daughters are terrified they will get it. We would love to test my husband to see if he carries the gene(s) and his doctor is for it. Our problem is cost - SSDI leaves little else for extras. Someone said Medicare would cover the cost but his medical is through the VA, which will not. If my husband carries the gene, then his nieces would know to go ahead with genetic testing if they really want to know. If he does not, then the chances are less that they will. We donated their dad's brain and eyes to a place in Boston, but I have no idea what the findings were or if they did genetic testing due to family history.


    • June 8, 2012 at 5:53 pm | Posted by Cat Koehler

      The testing is not cheap and is another decision in the equation. I hope everything works out for your family, Charlotte!


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